Intussusception is a condition in which one segment of intestine telescopes inside of another, causing an intestinal obstruction. Although intussusception can occur anywhere in the gastrointestinal tract, it usually occurs at the junction of the small and large intestines. Most describe the symptoms of intussusception as a triad of colicky abdominal pain, bilious vomiting, and currant jelly stool. The primary symptom of intussusception is described as intermittent crampy abdominal pain.

Penetrance is defined as the percentage of individuals having a particular mutation or genotype who exhibit clinical signs or phenotype of the associated disorder or genotype.Gaucher disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

The most probable diagnosis for the above clinical scenario, of a child presenting with motor and vocal tics for more than a year is highly suggestive of a diagnosis of Tourette syndrome. The symptoms often wax and wane, and although several different drugs are available, none are entirely useful, and side-effects are relatively common. With these considerations in mind, it is essential to try and avoid treatment initially as the tics can spontaneously improve with time. Informing the teacher and class about the nature of the condition and allowing the child ‘time out’ to tic might help to avoid the need for medication.

Certain infections and medications cause characteristic skin lesions, which are the result of hypersensitivity reactions to these agents. A skin rash characterized by the eruption of macules, papules, and target-like circular lesions is referred to as erythema multiforme. The target or iris lesions appear rounded with a red centre surrounded by a pale ring, which in turn is surrounded by a dark red outer ring. These are acute and self-limiting with a propensity for distal extremities. The most common infectious cause is the infection with herpes simplex virus 1 and 2 to a lesser extent. Other notable infectious causes of erythema multiforme include Mycoplasma pneumoniae, cytomegalovirus, HIV, hepatitis c virus, varicella zoster virus, adenovirus, and some fungal infections. Norovirus infection has not been implicated in the aetiology of erythema multiforme.

Bilious (green) gastric aspirate or emesis indicates that the intestines are obstructed below the ampulla of Vater.Gastrointestinal (GI) endoscopy is actually considered an essential diagnostic and therapeutic technique. Upper GI endoscopy in neonatal age allows for exploration of the oesophagus, stomach and duodenum| instead lower GI endoscopy easily reaches the sigmoid-colon junction.

Constipation is often associated with nocturnal enuresis in children. The palpable mass is the impacted stool. The decreased appetite is common in those with constipation.

Bone marrow failure syndromes are characterized by the bone marrow’s inability to produce cells of different lineage. They can be classified as those affecting one or two cell lineages or those affecting all three of them. Fanconi syndrome, along with dyskeratosis congenita, is one of the inherited bone marrow failure syndromes that causes pancytopenia. Other inherited disorders affecting hematopoietic lineage include Diamond-Blackfan anaemia, Schwachman-Diamond syndrome, congenital amegakaryocytic thrombocytopenia (CAMT) and Thrombocytopenia absent radii (TAR) syndrome. Acquired causes of bone marrow failure that lead to pancytopenia include aplastic anaemia, drugs, nutritional deficiencies, and viral infections. Kostmann syndrome is an autosomal recessive form of severe neutropenia, most likely due to excessive neutrophil apoptosis.

Scarlet fever is a childhood infectious disease caused by group A Streptococcus. It produces a papular rash, which is classically described as a sand-paper rash. The rash initially appears on the trunk, groin, and underarms and then spreads to extremities, usually sparing the palms and soles. Circumoral area is also spared, giving it pallor-like appearance. Diseases like erythema multiforme, contact dermatitis, staphylococcal scalded skin syndrome, and rubella produce a rash that classically affects the palms and soles.

By the age of 3 months Jasmine should startle to loud noises, recognise her parents voices and turn to them when they are speaking, and should quiet down or smile at the sound of a familiar voice when crying. She should also cry when she is uncomfortable or irritated. By the time Jasmine is 9 months old she would begin to understand and respond to the word ‘no’ as well as other easy commands. She would be able vocalise and babble with repetitive sounds, and imitate adults’ playful sounds. She would be much less likely startled by loud noises.

Usually, a total serum bilirubin level test is the only one required in an infant with moderate jaundice who presents on the second or third day of life without a history and physical findings suggestive of a pathologic process. Measurement of bilirubin fractions (conjugated vs unconjugated) in serum is not usually required in infants who present as described above. However, in infants who have hepatosplenomegaly, petechiae, thrombocytopenia, or other findings suggestive of hepatobiliary disease, metabolic disorder, or congenital infection, early measurement of bilirubin fractions is suggested. The same may apply to infants who remain jaundiced beyond the first 7-10 days of life, and to infants whose total serum bilirubin levels repeatedly rebound following treatment.

Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks, generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning. Seizures can be triggered by lack of sleep, extreme fatigue, stress, or alcohol consumption. Onset typically occurs around adolescence in otherwise healthy children. The causes of juvenile myoclonic epilepsy are very complex and not completely understood. Mutations in one of several genes, including the GABRA1 and the EFHC1 genes, can cause or increase susceptibility to this condition. Although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good.

The most appropriate management would be to reassure the parents, as nasolacrimal duct dysfunction in most infants tends to resolve spontaneously.Note:Nasolacrimal duct blockage occurs in up to 5% of new-borns. 90% of these babies spontaneously resolve in the first year of life. They do not require urgent ophthalmological review, as often advice and reassurance for parents suffice for up to the age of 18 months old or so. A lump can often be seen in the nasolacrimal region following the accumulation of mucous. This does not need to be treated with antibiotics unless there are signs of acute infection.Other options:- The child does not require urgent ophthalmology review as there are no signs of severe infection. Watery eyes often lead to mucous production, which is a common non-worrying sign.- A course of topical antibiotics: Watery eyes often lead to mucous production, which is distinct from pus discharge. Unnecessary topical antibiotics can cause secondary red eyes as well as give parents false expectations for the resolution of the symptoms and signs.- A course of topical and oral antibiotics: Watery eyes often lead to mucous production, which is distinct from pus discharge. Unnecessary topical and oral antibiotics can cause secondary red eyes as well as give parents false expectations for the resolution of the symptoms and signs.- Reassurance is necessary. However, the advice that the child most likely will need a surgical procedure to resolve this is incorrect. Reassurance, but include advice that the child most likely will need a surgical procedure to resolve this is incorrect as 90% of infants that have these symptoms and signs resolve within the first year of life.

Craniopharyngiomas (also known as Rathke pouch tumours, adamantinomas or hypophyseal duct tumours) affect children mainly between the age of 5 and 10 years. It constitutes 9% of brain tumours affecting the paediatric population. These are slow-growing tumours which can also be cystic, and arise from the pituitary stalk, specifically the nests of epithelium derived from Rathke’s pouch. Histologically, this tumour shows nests of squamous epithelium which is lined on the outside by radially arranged cells. Calcium deposition is often seen with a papillary type of architecture.
ACTH-secreting pituitary adenomas are rare and mostly microadenomas. Paediatric astrocytoma’s usually occur in the posterior fossa. Although null cell adenomas can cause mass effect and give rise to the described symptoms, they are not suprasellar. Prolactinomas can also show symptoms of headache and disturbances in the visual field, however they are known to be small and slow-growing.

The sinus venosus is a large quadrangular cavity which precedes the atrium on the venous side of the chordate heart. It exists distinctly only in the embryonic heart (where it is found between the two venae cavae)| however, the sinus venosus persists in the adult. In the adult, it is incorporated into the wall of the right atrium to form a smooth part called the sinus venarum, which is separated from the rest of the atrium by a ridge of fibres called the crista terminalis. The sinus venosus also forms the SA node and the coronary sinus.

Polycythaemia is a commonly occurring neonatal disorder, which is characterized by a venous haematocrit ≥ 65%. It increases the blood viscosity and causes microcirculatory flow impairment in the end-organs. Causes of polycythaemia are multi-factorial, but the significant risk factors are maternal diabetes, SGA, LGA or post-term birth, infants with chromosomal abnormalities, and delayed clamping of the cord. Jaundice is not a recognized risk factor for polycythaemia.

Transient tachypnoea of the new-born (TTN) is the commonest cause of respiratory distress in new-borns and self-limiting. It can affect any new-born shortly after birth. Its most prominent feature is tachypnoea. Nasal flaring, grunting, or intercostal retractions may also be present.

The parotid duct (Stensen’s duct), which provides an exit for the gland’s secretions, passes through the anterior edge of the gland in the superficial lobe, turns medially at the anterior border of the masseter, penetrates the buccinator, then enters the oral cavity lateral to the second maxillary molar.

The first brachial arch (mandibular) gives rise to the mandibular and maxillary processes. Muscles and bones of this process originate within the arch’s mesoderm. The first arch cartilage (Meckel’s) ossifies to form the incus and malleus of the middle ear. Its perichondrium gives rise to he sphenomandibular ligament and through intermembraneous ossification after the mandible forms, the rest of the cartilage disappears. Muscles of the first arch include: mylohyoid, tensor tympany and palati, temporalis, masseter and lateral pterygoids and the anterior belly of the epigastric. This first arch is supplied by the trigeminal nerve.

Neonatal hypoglycaemia is a common yet serious condition characterized by blood sugar levels less than 2.2mmol/L during the first 3 days of life and less than 2.5mmol/L later on. There are multiple aetiologies and various risk factors that lead to hypoglycaemia in new-borns like prematurity, sepsis, inborn errors of metabolism, and maternal diabetes- induced hyperinsulinism in the new-born. Among the inborn errors of metabolism, fatty acid oxidation defects can lead to persistent hypoglycaemia in new-borns. One such defect is the medium- chain acyl CoA dehydrogenase deficiency, which is the enzyme needed for the breakdown of medium- chain fatty acids.

The most common cause of acute urticaria is a viral infection. Individual lesions typically are short-lived and last less than 24 hours. Urticaria can be due to or can be made worse by cold temperatures. One of the other causes of urticaria is salicylic acid.

A 3 year old should be able to match two colours, copy a circle, walk up and down the stairs, and jump up and down. By the time they are 4 they can copy a cross, draw a person with three parts, count to 10, stand on one foot.

Box plots can be used to display numerical outcomes and give valid summaries (median and interquartile range or IQR) for any distributional form that the outcomes might take. Additionally, they show outlying values and provide data summaries that are not unduly influenced by those outliersOther options:- The box itself represents the interquartile range, with the two whiskers representing the variability outside the upper and lower quartiles.- Variability is represented with whiskers and feathers are used in fan charts.They are not as informative as showing the actual values but can be used to make comparisons of medians and IQRs between subgroups.

Due to breakdown of the red blood cell membrane in haemophilic patients, cholesterol crystals are formed by the lipids. On the other hand lipofuscin deposition does not occur in haemolysis or haemorrhage. Neutrophil accumulation suggests acute inflammation. Anthracotic pigment is an exogenous carbon pigment that deposits in the lung from dust. Russell bodies are intracellular accumulations of immunoglobins in plasma cells. Curschmann’s spirals and Charcot Leyden crystals are pathognomonic of asthma.

Gastroesophageal reflux occurs in almost all infants, manifesting as wet burps after feeding. The spit-ups appear effortless and not particularly forceful.Infants in whom reflux has caused GERD have additional symptoms, such as irritability, feeding refusal, and/or respiratory symptoms such as chronic recurrent coughing or wheezing and sometimes stridor. Much less commonly, infants have intermittent apnoea or episodes of arching the back and turning the head to one side (Sandifer syndrome). Infants may fail to gain weight appropriately or, less often, lose weight.Incidence of gastroesophageal reflux increases between 2 months and 6 months of age (likely due to an increased volume of liquid at each feeding) and then starts to decrease after 7 months. Gastroesophageal reflux resolves in about 85% of infants by 12 months and in 95% by 18 months.

Chédiak–Higashi syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Pellagra occurs as a result of niacin (vitamin B-3) deficiency. Niacin is required for most cellular processes. Since tryptophan in the diet can be converted to niacin in the body, both of these need to be deficient for pellagra to develop.The classical triad of symptoms is diarrhoea, dermatitis and dementia.The first sign is reddened skin with superficial scaling in areas exposed to sunlight, heat and friction. This may resemble severe sunburn then gradually subsides leaving a dusky brown-red colouration. The rash is usually symmetrical with a clear edge between affected and unaffected skin.

Pyloric stenosis affects infants, typically in the second to fourth weeks of life and is caused most commonly by hypertrophy and thickening of the pylorus. It usually presents with projectile vomiting and failure to thrive. The infant usually has a normal appetite. Features include: ‘projectile’ vomiting, typically 30 minutes after a feed, constipation and dehydration may also be present and a palpable mass may be present in the upper abdomen.

Epistaxis is common in younger children usually due to nose picking. After the episode is over no active management is required and reassurance should be given to the patient and his attendants.

Not being able to form a sentence at the age of 18 months is quite normal. A combination of two words to form a sentence can be done by 2 years of age.

Bitemporal hemianopia is a characteristic finding seen in patients with optic chiasm lesion.The pituitary gland is situated within the pituitary fossa. Just above the pituitary fossa is the optic chiasm and so any expanding masses from the pituitary gland commonly press on it, causing bitemporal hemianopia.Other options:- Compression of the optic nerve would not cause more severe, generalised visual loss. Also, the optic nerve is not anatomically related to the pituitary gland and so is unlikely to be directly compressed in the presence of a pituitary tumour.- The optic tract is again not closely anatomically related with the pituitary gland and so is unlikely to be directly compressed in the presence of a pituitary tumour. Also, damage to the optic tract on one side would cause homonymous hemianopia.- The lateral geniculate nucleus is a centre of cells in the thalamus and is unlikely to be compressed by a pituitary tumour. Its function is to convey sensory information from the optic tract to more central parts of the visual pathway.- The Edinger-Westphal nucleus is located at the level of the superior colliculus in the midbrain and so may not be compressed by an enlarging pituitary tumour.Other visual defects:- Left homonymous hemianopia: It is the visual field defect to the left, due to the lesion of the right optic tract.- Homonymous quadrantanopias are seen in parietal (inferior homonymous quadrantopia) and temporal lobe lesions (superior homonymous quadrantopia). Mnemonic: PITS (Parietal-Inferior, Temporal-Superior)A congruous defect means complete or symmetrical visual field loss, and conversely, an incongruous defect is incomplete or asymmetric.Incongruous defects suggest an optic tract lesion, while congruous defects suggest optic radiation or occipital cortex lesion.

The murmur of tricuspid valve regurgitation is typically a high-pitched, blowing, holosystolic, plateau, nonradiating murmur best heard at the lower left sternal border. The intensity is variable, but tends to increase during inspiration (Carvallo’s sign), with passive leg raising, after a post-extrasystole pause, and following amyl nitrite inhalation. The intensity of the murmur tends to correlate positively with the severity of regurgitation. Right ventricular enlargement may displace the location of the murmur leftward. Right ventricular failure may abolish respiratory variation. When tricuspid regurgitation is caused by pulmonary hypertension, a pulmonic ejection click may be audible. Severe tricuspid regurgitation is commonly accompanied by a third heart sound emanating from the right ventricle and best heard at the lower left sternal border. Severe tricuspid regurgitation typically produces an accentuated jugular cv wave and may produce hepatic congestion with a pulsatile liver.The auscultatory findings associated with ventricular septal defect are variable, depending on a variety of morphologic and hemodynamic considerations. The systolic murmur associated with a Roger’s-type ventricular septal defect (regurgitant jet flows directly into the right ventricular outflow tract) in patients with low pulmonary vascular resistance is a low to medium pitched, holosystolic murmur with midsystolic accentuation. The intensity of the murmur is typically grade 3 or higher.Patent ductus arteriosus produces a continuous murmur in patients with normal pulmonary vascular resistance.

According to the NICE guidelines, the frequency of stool passage is considered constipation when two or more of the following findings are present: Fewer than 3 stools a week, large hard stools, stools that resemble rabbit droppings| symptoms associated with defecation including distress, bleeding or straining| a history of previous episodes of a precious/current anal fissure. The child in the scenario fails to meet the criteria, and has no evidence of impacted faeces on examination. The best course of action is to encourage the parents to give the child more water to prevent dehydration, and feed the child a fibre rich diet including fruits, vegetables and high fibre bread.

Craniopharyngiomas (also known as Rathke pouch tumours, adamantinomas or hypophyseal duct tumours) affect children mainly between the age of 5 and 10 years. It constitutes 9% of brain tumours affecting the paediatric population. These are slow-growing tumours which can also be cystic, and arise from the pituitary stalk, specifically the nests of epithelium derived from Rathke’s pouch. Histologically, this tumour shows nests of squamous epithelium which is lined on the outside by radially arranged cells. Calcium deposition is often seen with a papillary type of architecture.
ACTH-secreting pituitary adenomas are rare and mostly microadenomas. Paediatric astrocytoma’s usually occur in the posterior fossa. Although null cell adenomas can cause mass effect and give rise to the described symptoms, they are not suprasellar. Prolactinomas can also show symptoms of headache and disturbances in the visual field, however they are known to be small and slow-growing.

Omega-shaped epiglottis is a characteristic feature in the X-ray of a patient with laryngomalacia.

Rota virus is the leading cause of vital gastroenteritis among children from 6 months to 6 years of age. It is transferred by feco-oral route and it damages the transport mechanism in the intestinal mucosal cells which leads to electrolyte imbalance that’s why the child suffers from dehydration. Treatment of choice is rehydration and correction of electrolyte imbalance.

A drooping eyelid is called ptosis or blepharoptosis. In ptosis, the upper eyelid falls to a position that is lower than normal. Severe ptosis may cover part or all of the pupil and interfere with vision, resulting in amblyopia.Visual development in a child can be permanently impaired when there is deprivation of visual stimulation or when the oculomotor function is impaired. Congenital ptosis can represent both these components

Common neurological symptoms of Wilson disease that may appear and progress with time include tremor, involuntary movements, difficulty swallowing (dysphagia), difficulty speaking and poor articulation (dysarthria), lack of coordination, spasticity, dystonic postures, and muscle rigidity.

Age (years) Respiratory rate (per minute) Heart rate (per minute) Systolic blood pressure<1 30-40 110-160 70-901-2 25-35 100-150 80-952-5 25-30 95-140 80-1005-12 20-25 80-120 90-110>12 15-20 60-100 100-120Adapted from Advanced Paediatric Life Support Manual

Inhaled objects are more likely to enter the right lung for several reasons. First the right bronchus is shorter, wider and more vertical than the left bronchus. Also, the carina (a ridge-like structure at the point of tracheal bifurcation) is set a little towards the left. The terminal bronchiole is a very small space and impossible for the seed to lodge here.

A peripheral blood film in iron deficiency anaemia can reveal the following morphologically variant RBCs:- Microcytic cells- Hypochromic cells- Pencil cells- Target cellsOther options:- Schistocytes can be caused by mechanical heart valves. – Rouleaux can be seen in chronic liver disease and malignant lymphoma. – Tear-drop poikilocytes can be seen in myelofibrosis. – Acanthocytes can be seen in liver disease and McLeod blood group phenotype.Pathological red cell forms include:- Target cells: Sickle-cell/thalassaemia, iron-deficiency anaemia, hyposplenism, and liver disease.- Tear-drop poikilocytes: Myelofibrosis- Spherocytes: Hereditary spherocytosis and autoimmune haemolytic anaemia- Basophilic stippling: Lead poisoning, thalassaemia, sideroblastic anaemia, and myelodysplasia- Howell-Jolly bodies: Hyposplenism- Heinz bodies: G6PD deficiency and alpha-thalassaemiaSchistocytes (‘helmet cells’): Intravascular haemolysis, mechanical heart valve, and disseminated intravascular coagulation- Pencil poikilocytes: Iron deficiency anaemia- Burr cells (echinocytes): Uraemia and pyruvate kinase deficiency – Acanthocytes: Abetalipoproteinemia

Angelman syndrome is a rare genetic and neurological disorder caused by deletion or abnormal expression of the UBE3A gene and characterized by severe developmental delay and learning disabilities| absence or near absence of speech| inability to coordinate voluntary movements (ataxia)| tremulousness with jerky movements of the arms and legs and a distinct behavioural pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling. Although those with the syndrome may be unable to speak, many gradually learn to communicate through other means such as gesturing. In addition, children may have enough receptive language ability to understand simple forms of language communication. Additional symptoms may occur including seizures, sleep disorders and feeding difficulties. Some children with Angelman syndrome may have distinctive facial features but most facial features reflect the normal parental traits.

Being anatomically situated immediately posterior to the subclavius muscle and the medial part of the clavicle, the subclavian vein is at the highest risk of injury in the above patient.As a direct tributary of the brachiocephalic vein, it’s injury poses a high risk of massive bleeding.The brachiocephalic vein rests on the first rib, below and in front of the third part of the subclavian artery, and then on scalenus anterior which separates it from the second part of the artery (posteriorly).Anatomy of the clavicle:The clavicle extends from the sternum to the acromion and helps prevent the shoulder falling forwards and downwards.

The ductus arteriosus is normally patent during fetal life| it is an important structure in fetal development as it contributes to the flow of blood to the rest of the fetal organs and structure. From the 6th week of fetal life onwards, the ductus is responsible for most of the right ventricular outflow, and it contributes to 60% of the total cardiac output throughout fetal life. Only about 5-10% of its outflow passes through the lungs.This patency is promoted by continual production of prostaglandin E2 (PGE2) by the ductus.In the foetus, the oxygen tension is relatively low, because the pulmonary system is non-functional. Coupled with high levels of circulating prostaglandins, this acts to keep the ductus open. The high levels of prostaglandins result from the little amount of pulmonary circulation and the high levels of production in the placenta.At birth, the placenta is removed, eliminating a major source of prostaglandin production, and the lungs expand, activating the organ in which most prostaglandins are metabolized. In addition, with the onset of normal respiration, oxygen tension in the blood markedly increases. Pulmonary vascular resistance decreases with this activity.Normally, functional closure of the ductus arteriosus occurs by about 15 hours of life in healthy infants born at term. This occurs by abrupt contraction of the muscular wall of the ductus arteriosus, which is associated with increases in the partial pressure of oxygen (PO2) coincident with the first breath. A preferential shift of blood flow occurs| the blood moves away from the ductus and directly from the right ventricle into the lungs. Until functional closure is complete and PVR is lower than SVR, some residual left-to-right flow occurs from the aorta through the ductus and into the pulmonary arteriesA balance of factors that cause relaxation and contraction determine the vascular tone of the ductus. Major factors causing relaxation are the high prostaglandin levels, hypoxemia, and nitric oxide production in the ductus. Factors resulting in contraction include decreased prostaglandin levels, increased PO2, increased endothelin-1, norepinephrine, acetylcholine, bradykinin, and decreased PGE receptors. Increased prostaglandin sensitivity, in conjunction with pulmonary immaturity leading to hypoxia, contributes to the increased frequency of patent ductus arteriosus (PDA) in premature neonates.Although functional closure usually occurs in the first few hours of life, true anatomic closure, in which the ductus loses the ability to reopen, may take several weeks. The second stage of closure related to the fibrous proliferation of the intima is complete in 2-3 weeks.

The swelling and bruising on the mandible needs to be checked for fractures. A facial X-ray can adequately visualize this.

History is suggestive of a possible hearing impairment. As the baby is vocalizing and has normal motor development, an isolated hearing problem is possible. A hearing test will confirm the diagnosis.

Immunity against mumps develops over a long time. There is nothing to be done except to proceed with the usual vaccination schedule.

Mittelschmerz is midcycle abdominal pain due to leakage of prostaglandin-containing follicular fluid at the time of ovulation. It is self-limited, and a theoretical concern is treatment of pain with prostaglandin synthetase inhibitors, which could prevent ovulation. The pain of mittelschmerz usually occurs in the lower abdomen and pelvis, either in the middle or to one side. The pain can range from a mild twinge to severe discomfort and usually lasts from minutes to hours. In some cases, a small amount of vaginal bleeding or discharge might occur. Some women have nausea, especially if the pain is very strong.Diagnosis of pelvic pain in women can be challenging because many symptoms and signs are insensitive and nonspecific. As the first priority, urgent life-threatening conditions (e.g., ectopic pregnancy, appendicitis, ruptured ovarian cyst) and fertility-threatening conditions (e.g., pelvic inflammatory disease, ovarian torsion) must be considered. Many women never have pain at ovulation. Some women, however, have mid-cycle pain every month, and can tell by the pain that they are ovulating.As an egg develops in the ovary, it is surrounded by follicular fluid. During ovulation, the egg and the fluid, as well as some blood, are released from the ovary. While the exact cause of mittelschmerz is not known, it is believed to be caused by the normal enlargement of the egg in the ovary just before ovulation. Also, the pain could be caused by the normal bleeding that comes with ovulation.Pelvic inflammatory disease can be ruled out if the patient is not sexually active.

Answer: Inflammatory bowel diseaseThe inflammatory bowel diseases (IBDs), including ulcerative colitis and Crohn disease, are chronic inflammatory disorders of the gastrointestinal tract most often diagnosed in adolescence and young adulthood, with a rising incidence in paediatric populations. Inflammatory bowel disease is caused by a dysregulated mucosal immune response to the intestinal microflora in genetically predisposed hosts. Although children can present with the classic symptoms of weight loss, abdominal pain, and bloody diarrhoea, many present with nonclassical symptoms of isolated poor growth, anaemia, or other extraintestinal manifestations.Colorectal Carcinoma (CRC) is rare in patients less than 20 years of age.

Congenital hypothyroidism is one of the most important diseases of the new-born, which may lead to mental and physical retardation when treatment is delayed or an appropriate dosage of thyroxine is not administered. The most alarming and earliest sign is jaundice, especially when it is prolonged, during the neonatal period.

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disease. The Lisch nodule represents one of the most common NF1 ocular manifestations.NF1 is caused by a genetic mutation which can cause tumours to grow on nerve endings| these cutaneous neurofibromas are benign tumours which grow on the skin, often first appearing during the hormonal changes that occur in teenage years. They vary in size and can appear anywhere on the body. The number of neurofibromas present differs greatly between individuals and over a lifetime Café au lait spots (coffee coloured birthmarks) are often the first and most common sign of NF1, and these are often found at birth and are usually evident by 2 years of age.Other features of NF1 can include Lisch nodules of the iris (small pigmentation in the iris which causes no disturbance to vision), skin-fold freckling (freckling/pigmentation in the groyne and armpits), plexiform neurofibromas (or sub cutaneous neurofibromas) which are diffuse tumours that grow along a nerve and are found in at least 25 % of people with NF1, optic gliomas (tumour of the optic nerve), and skeletal complications including pseudarthrosis and scoliosis. Macrocephaly (large head size) is also common, and short stature is found in around a third of people with NF1. Rare complications include a risk of malignancy, organs being compromised by neurofibromas, seizures, and hypertension.

A 3-dimensional transoesophageal echocardiography (3D TEE) provides direct visualization of the entire PFO anatomy and surrounding structures. It allows more accurate diagnosis.

The most common cause for acute bloody diarrhoea in a 10-year-old child is Campylobacter.Note:Campylobacter is the most common bacterial cause of gastroenteritis in the UK. It typically presents with bloody diarrhoea, fever, abdominal pain and vomiting. The primary source of Campylobacter is uncooked poultry. Treatment is generally supportive unless the child is immunosuppressed or the symptoms are persistent.Other options:- E. coli 0157:H7: It causes acute haemorrhagic diarrhoea, usually afebrile. It can lead to haemolytic uremic syndrome (haemolytic anaemia, acute renal failure and thrombocytopenia), which is the commonest cause of acute renal failure in children.- Rotavirus: It rarely causes bloody diarrhoea.- Salmonella and Yersinia: While they can cause bloody diarrhoea, they are much less common compared to Campylobacter.

In the case of anterior nasal bleeds, when the bleeding point is clearly visualised the best management step is cautery, either electrical or chemical.

Case control studies are observational studies which retrospectively determine whether a patient might have been exposed to a risk factor for a certain disease, as compared to a control group from the general population. They can be used for a range of outcomes as well as rare diseases. One of the biggest problems with this type of study is recall bias. Research subjects may selectively remember factors that are more predictive of the disease outcome when compared to the control group. All studies should have prior power calculations before the study commences.

CMV infection is usually asymptomatic in adults. However, if the mother is infected for the first time during pregnancy then there is high chances of this infection passing on to the foetus. CMV infection can cause blindness, deafness, learning difficulties, restricted growth etc. Hepatitis B, herpes simplex, syphilis and HIV do not present with these classical signs of CMV infection in new-borns. It is estimated that 10 stillbirths occur in England and Wales every year due to CMV infection. The foetus is most at risk in early pregnancy. There is no effective prevention.

Scurvy is a condition caused by a dietary deficiency of vitamin C, also known as ascorbic acid. Humans are unable to synthesize vitamin C, therefore the quantity of it that the body needs has to come from the diet. The presence of an adequate quantity of vitamin C is required for normal collagen synthesis. In scurvy bleeding tendency is due to capillary fragility and not coagulation defects, therefore blood tests are normal.

Puberty is when a child’s body begins to develop and change as they become an adult.The average age for girls to begin puberty is 11, while for boys the average age is 12.It’s completely normal for puberty to begin at any point from the ages of 8 to 14. The process can take up to 4 years.

Although initially thought to affect only boys, girls with DMD also have an estimated 10% chance of inheriting the condition. In girls, DMD may present with all or some clinical manifestations.

Primary amenorrhea is defined as the total absence of menarche in a girl of 14 years of age if the secondary sexual characteristics are also absent or in a girl of 16 years of age in whom normal secondary sexual characteristics are present. There are multiple causes of primary amenorrhea, but the most common are constitutional delay, imperforate hymen, congenital adrenal hyperplasia, hypothalamic failure, and testicular feminization. Cushing’s syndrome leads to secondary amenorrhea, which is defined as the absence of a menstrual period for 6 consecutive cycles in a girl who has achieved menarche.

The organisms most likely to cause post-splenectomy sepsis include:- Streptococcus pneumoniae- Haemophilus influenzae- MeningococciEncapsulated organisms carry the most significant pathogenic risk following splenectomy. Hyposplenism:It may complicate certain medical conditions where splenic atrophy occurs or maybe the result of medical intervention such as splenic artery embolization and splenectomy for trauma. The diagnosis of hyposplenism is difficult, and while there may be peripheral markers of the splenectomised state (e.g. Howell-Jolly bodies), these are neither 100% sensitive or specific. The most sensitive test is a radionucleotide labelled red cell scan.It dramatically increases the risk of post-splenectomy sepsis, particularly with encapsulated organisms. Since these organisms may be opsonized, but this then goes undetected at an immunological level due to loss of the spleen. For this reason, individuals are recommended to be vaccinated and have antibiotic prophylaxis.Key recommendations:- All those with hyposplenism or prior to an elective splenectomy should receive pneumococcal, Haemophilus type b and meningococcal type C vaccines. These should be administered two weeks before or two weeks following splenectomy. The vaccine schedule for meningococcal disease primarily consists of a dose of Men C and Hib at two weeks and then a dose of the MenACWY vaccine one month later. Those aged under two may require a booster at two years. A dose of pneumococcal polyvalent polysaccharide vaccine (PPV) is given at two weeks. A conjugate vaccine (PCV) is offered to young children. The PCV is more immunogenic but covers fewer serotypes. Boosting PPV is either guided by serological measurements (where available) or by routine boosting doses at five-yearly intervals.Annual influenza vaccination is recommended in all cases- Antibiotic prophylaxis is offered to all. The risk of post-splenectomy sepsis is highest immediately following splenectomy. Individuals with an inadequate response to pneumococcal vaccination are another high-risk group. High-risk individuals should be counselled to take penicillin or macrolide prophylaxis. Those at low risk may choose to discontinue therapy. All patients should be advised about taking antibiotics early in the case of intercurrent infections.- Asplenic individuals travelling to malaria-endemic areas are at high risk and should have both pharmacological and mechanical protection.

USG of the scrotum is important to exclude any abnormality with testicles, epididymis and scrotum. This presentation can be acute epididymo-orchitis or testicular torsion. USG of the scrotum will help to confirm the diagnosis.

History of fever is suggestive of an infective focus. A straight nasal bones excludes a nasal bone fracture. A nasal septal abscess is defined as a collection of pus between the cartilage or bony septum and it is an uncommon disease which should be suspected in a patient with acute onset of nasal obstruction and recent history of nasal trauma.

Neonatal hypoglycaemia is a serious condition that needs prompt attention and management. The accepted criteria to define neonatal hypoglycaemia is blood sugar levels less than 2.2mmol/L during the first 3 days of life and less than 2.5mmol/L later on. Multiple aetiologies and various risk factors are involved in causing hypoglycaemia in new-borns| the most common and important causes include prematurity, erythroblastosis fetalis, hypoxia at birth, sepsis, inborn errors of metabolism, hypopituitarism, and hyperinsulinism due to maternal diabetes. Inborn errors of metabolism that lead to persistent neonatal hypoglycaemia are maple syrup urine disease, glycogen storage disease, fatty acid enzyme deficiencies, and fructose intolerance. Phenylketonuria does not cause hypoglycaemia.

Primitive reflexes are central nervous system responses, many of which disappear as a child matures. Retention of these reflexes may point to atypical neurology such as in cerebral palsy or stroke. However, some persist into adulthood. The stepping reflex is present from birth and normally disappears by 6 weeks, while the moro reflex is present from birth to about 4 months. The asymmetrical tonic neck reflex disappears by about 6 months. Reflexes that persist include the head righting reflex which develops at 6 months, and the parachute reflex which develops at 9 months.

Among the options provided, a 1-year-old child will be able to understand object permanence e.g. understands that objects continue to exist even when they can’t be seen, e.g. looking for a fallen toy.At the age of 1 year, children should have developed an accurate pincer grip and be able to see and co-ordinate and manipulate fairly small objects such as a raisin.Gross motor development varies, but the average 1-year-old should be able to stand and cruise around furniture or walk with their hands held but not necessarily walk unaided.Drinking from a cup will become established at around 15 months and scribbling at 18 months.

Turner syndrome is a genetic disease that affects females. It presents with wide-spread nipples, low hairline, lymphoedema, short 4th metacarpals, high-arched palate, cardiac problems, and horseshoe kidneys.

Pityriasis amiantacea: This condition is characterized by thick, asbestos-like scales on the scalp and is often associated with psoriasis or seborrheic dermatitis.

Infantile seborrhoeic dermatitis: Also known as cradle cap, this condition causes greasy, yellowish scales on the scalp.

Tinea capitis: A fungal infection of the scalp that leads to scaling, hair loss, and sometimes redness and swelling.

Cutaneous lupus erythematosus: While lupus can cause skin lesions, it is less commonly associated with a scaly scalp compared to the other conditions listed. It can cause hair loss and erythema, but significant scaling is not a primary feature.

Scalp psoriasis: This condition is well-known for causing thick, silvery scales on the scalp

Non Epileptic attack disorder, also known as psychogenic non epileptic seizures, is a condition characterised by episodes of abnormal movement and behaviours that resemble seizures , but are not caused by electrical activity changes in the brain. It is believed that the disorder is caused by the brain’s response to overwhelming or stressful situations. In Jamila’s case, triggering conditions for her episodes may have been the absence of her mother, and the stress of her upcoming examinations. A diagnosis of generalised epilepsy is unlikely because this would require abnormal movement in all 4 limbs during an episode and a longer period of semi consciousness after. Cataplexy can also be ruled out as it does not involve a loss of consciousness which we see in Jamila’s case. Vasovagal syncope does not correspond with the history as there was no evidence of simultaneous collapse and responsiveness coupled with colour change and near spontaneous recovery when supine. A complex partial seizure may be possible in Jamila’s case, however the history of long duration, her eyes being tightly shut and the differences in presentation between the two episodes makes it less likely.

Standard deviation is defined as the measure of dispersion of a set of data from its mean. It measures the absolute variability of a distribution| the higher the dispersion or variability, the greater is the standard deviation and greater will be the magnitude of the deviation of the value from their mean.

The most probable diagnosis in this patient is lead poisoning.Lead poisoning: While it is not common, it can be potentially fatal. One of the key presenting features here is pica, the ingestion of non-nutritive substances such as soil, soap, paper or wood. Pica can also be observed in children in iron-deficiency anaemia, developmental delay and pregnancy. However, in a child who is exposed to lead in their environment (e.g. from lead paint or pipes), lead poisoning is most likely. It is commonly associated with iron deficiency which in turn increases the lead absorption. Treatment is either with oral D-penicillamine or intravenous sodium calcium edetate.

3,4-methylenedioxy-methamphetamine (MDMA) is a synthetic drug that alters mood and perception (awareness of surrounding objects and conditions). It is chemically similar to both stimulants and hallucinogens, producing feelings of increased energy, pleasure, emotional warmth, and distorted sensory and time perception. MDMA’s effects last about 3 to 6 hours, although many users take a second dose as the effects of the first dose begin to fade. Over the course of the week following moderate use of the drug, a person may experience:irritabilityimpulsiveness and aggressiondepressionsleep problemsanxietymemory and attention problemsdecreased appetitedecreased interest in and pleasure from sex

The Green Book guidelines report in an active infection (HBeAg+ and HBsAg+) to give the vaccine as well as immunoglobulin. If antibodies are present it is not active infection (anti-Hbe) and then in that case only the vaccine, and no immunoglobulin, would be given. The presence of HBeAg means a person is infectious and can transmit to other people.

The origins of the neural tube and the nape of the neck where nuchal translucency measurements are taken are from embryonic ectoderm.The structural development of the head and neck occurs between the third and eighth weeks of gestation. The 5 pairs of branchial arches, corresponding to the primitive vertebrae gill bars, that form on either side of the pharyngeal foregut on day 22 are the embryologic basis of all the differentiated structures of the head and neck. Each arch consists of 3 layers: an outer covering of ectoderm, an inner covering of endoderm, and a middle core of mesenchyme. These arches are separated further into external, ectoderm-lined pharyngeal clefts and internal, endoderm-lined pharyngeal pouchesA population of ectodermal cells adjacent to the neural fold and not included in the overlying surface (somatic) ectoderm gives rise to the formation of the neural crest. These neuroectodermal crest cells are believed to migrate widely throughout the developing embryo in a relatively cell-free enriched extracellular matrix and differentiate into a wide array of cell and tissue types, influenced by the local environment. Most connective and skeletal tissues of the cranium and face ultimately come from the derivatives of neural crest cells.

Meckel’s diverticulum is a true diverticulum and is the most common congenital anomaly of the GI tract, occurring in about 2% of people. It is caused by incomplete obliteration of the vitelline duct and consists of a congenital sacculation of the antimesenteric border of the ileum. Symptoms are uncommon but include lower GI bleeding, bowel obstruction, and inflammation (diverticulitis). Causes of upper GI bleeding in neonates:Swallowed maternal bloodCoagulopathies including haemorrhagic disease of the new-bornStress gastritis & stress ulcersDrugs (NSAIDs, heparin, indomethacin used for patent duct closure, dexamethasone)Causes of upper GI bleeding in children 1 month to 1 year:GORDGastritis (with or without Helicobacter pylori infection)Crohn diseaseDrugs (NSAIDs)Zollinger-Ellison syndromeCauses of upper GI bleeding in children 1 -2 years:Peptic ulcer diseaseZollinger-Ellison syndromeBurns (Curling ulcer)Head trauma (Cushing ulcer)SepsisCauses of upper GI bleeding in older than 2 years:Oesophageal varices secondary to portal hypertension (most commonly portal vein thrombosis and biliary atresia)Duodenal ulcersOesophagitisGastritisMallory-Weiss tears

The mesonephric duct is one of the paired embryogenic tubules that drain the primitive kidney (mesonephros) to the cloaca. It also gives off a lateral branch forming the ureteric bud. In both the male and the female the Wolffian duct develops into the trigone of the urinary bladder. When the ducts are exposed to testosterone during embryogenesis, male sexual differentiation occurs: the mesonephric duct develops into the rete testis, the ejaculatory ducts, the epididymis, the ductus deferens and the seminal vesicles.

For Otorhinolaryngologist, removal of foreign bodies (FB) from the ear, nose and throat is one of the common emergency procedures done. Most of the cases especially of the ear and nose can be managed without General Anaesthesia (GA). But in some cases GA may be needed. As the child is mentally unstable, he is unlikely to be able to hold still while the foreign body (pea) is being removed with a forceps, which could result in instrumental damage to the ear canal. Pea is an organic foreign body and not metallic hence the use of magnets would not be of any help either. From the options provided, general anaesthesia would be the best option in this child.

Heart murmurs are common in healthy infants, children, and adolescents. Although most are not pathologic, a murmur may be the sole manifestation of serious heart disease. Historical elements that suggest pathology include family history of sudden cardiac death or congenital heart disease, in utero exposure to certain medications or alcohol, maternal diabetes mellitus, history of rheumatic fever or Kawasaki disease, and certain genetic disorders. Physical examination should focus on vital signs| age-appropriate exercise capacity| respiratory or gastrointestinal manifestations of congestive heart failure| and a thorough cardiovascular examination, including features of the murmur, assessment of peripheral perfusion, and auscultation over the heart valves. Red flags that increase the likelihood of a pathologic murmur include a holosystolic or diastolic murmur, grade 3 or higher murmur, harsh quality, an abnormal S2, maximal murmur intensity at the upper left sternal border, a systolic click, or increased intensity when the patient stands. Electrocardiography and chest radiography rarely assist in the diagnosis.

The symptoms and signs described are typical for epiglottitis which represents a paediatric emergency and the child should be put immediately on corticosteroids.

From the options mentioned here, the closest diagnosis is haemophilia. This is a mixed picture, as a purpuric rash on the buttocks does not correlate with this diagnosis. However, the most appropriate diagnosis is haemophilia.

The hypothalamus and pituitary gland control how much testosterone the testes produce and secrete. The hypothalamus sends a signal to the pituitary gland to release gonadotrophic substances (follicle stimulating hormone and luteinizing hormone). Luteinizing hormone (LH) stimulates testosterone production.

Among the given options, psoriasis is not associated with hypertrichosis.The causes of hypertrichosis include:- Drugs: minoxidil, ciclosporin, and diazoxide.- Congenital hypertrichosis lanuginosa and congenital hypertrichosis terminalis.- Porphyria cutanea tarda- Anorexia nervosa

A lumbosacral lipoma is a form of congenital spinal lipoma and can be regarded as a cutaneous marker of dysraphism. It is not a skin condition but rather represents a defect in the process of neurulation and leads to a constellation of other abnormalities. The most common other systemic abnormalities associated with midline lumbosacral lipoma include complex anorectal and urological malformations. Other mentioned conditions are benign rashes or birthmarks.

The most probable diagnosis for the patient would be DiGeorge syndrome due to 22q11 deletion. It causes embryonic defects of the third and fourth branchial arches. It is sporadic in 90% of cases and 10 % inherited from parents as autosomal dominant.Characterised by distinct facial features (micrognathia, cleft palate, short philtrum, and low-set ears), hypocalcaemia, mental retardation, cardiac defects (especially tetralogy of Fallot), and immune deficiencies.A useful memory aid is CATCH-22:- Cardiac defects- Abnormal facial features- Thymic aplasia/hypoplasia- Cleft palate- Hypocalcaemia/Hypoparathyroidism- 22 – Due to 22q11 deletion

Blood culture and sensitivity will distinguish the bacteria that is responsible for the infection and the effective antibiotic treatment to which the bacteria is sensitive.

Clinical signs of early pregnancy-Amenorrhoea-Nausea and vomiting -Breast enlargement and tenderness -Hyperpigmentation of the areola and formation of linea nigra: Most likely due to increased levels of melanocyte-stimulating hormone produced by the placenta -Increased urinary frequency-Fatigue-Cravings for or aversions to certain foods-Abdominal bloating and constipation

A 10 year old child, with a history of URTI and haematuria, presents a picture consistent with a diagnosis of IgA nephropathy. This condition can present with proteinuria and generalized swelling. However, an important differentiating point from rapidly progressive GN is the duration. IgA nephropathy is usually <10 days (commonly 4-5 day history of infection).

Supination is the rotation of the forearm so that the palm of the hand faces anteriorly. This is performed by the biceps brachii and supinator of the extensor muscles of the thumb. The opposite action of moving the palm from an anterior-facing position to a posterior-facing position is called pronation. Pronation is performed by the pronator teres and pronator quadratus.

Breast milk jaundice is associated with breast-feeding. It typically occurs one week after birth and can sometimes last up to 12 weeks, but it rarely causes complications in healthy, breast-fed infants. The exact cause of breast milk jaundice isn’t known. However, it may be linked to a substance in the breast milk that prevents certain proteins in the infant’s liver from breaking down bilirubin. The condition may also run in families. Breast milk jaundice is rare, affecting less than 3 percent of infants. When it does occur, it usually doesn’t cause any problems and eventually goes away on its own. It is safe to continue breast-feeding.

The clinical presentation of the boy suggests the involvement of the right frontal lobe.Psychiatric or behavioural disturbances secondary to frontal lobe lesions exhibit lateralisation. The lesions of the left hemisphere are associated with depression, especially if the lesion involves the dorsolateral portion of the prefrontal cortex. Whereas, lesions of the right hemisphere are associated with impulsivity, disinhibition, and aggression, as it is the case with the child in question.Presenting symptoms of lobar dysfunctions:- Frontal lobe: Contralateral hemiplegia, impaired problem solving, disinhibition, and lack of initiative. Broca’s aphasia and agraphia suggest the involvement of the dominant hemisphere.- Temporal lobe: Wernicke’s aphasia (dominant hemisphere involvement), homonymous upper quadrantanopia and auditory agnosia (non-dominant hemisphere involvement).- Parietal lobe: Anosognosia, dressing apraxia, spatial neglect and constructional apraxia are observed when the non-dominant hemisphere is involved. Gerstmann’s syndrome is observed when the dominant hemisphere is involved.- Occipital lobe: Visual agnosia, visual illusions and contralateral homonymous hemianopia.

The lingual nerve wraps around Wharton’s duct, and thus, is at risk of injury as the submandibular gland is mobilised. The lingual nerve provides sensory supply to the anterior 2/3 of the tongue.Note:- Submandibular duct (Wharton’s duct): It opens lateral to the lingual frenulum on the anterior floor of the mouth. It is around 5 cm in length.- Lingual nerve wraps around Wharton’s duct. As the duct passes forwards, it crosses medial to the nerve, above it and then crosses back, lateral to it, to reach a position below the nerve.

Breastfeeding may be significantly impaired (up to 25%) by breast augmentation. Equally, breast engorgement, which occurs due to vascular congestion, reduces nipple protrusion and subsequent ability to breastfeed successfully. In the latter, regular feeding or expressing is required.

Ewing’s sarcoma is formed by small, round, blue cells, and is common in children. The usually develop in limbs, and clinical findings include pain and inflammation, with lytic destruction showing up on X-rays.

A not immunized patient with a clean wound requires an immediate vaccination against diphtheria, tetanus and polio, according to the Green Book of Immunisation against infectious disease. (The Green Book has the latest information on vaccines and vaccination procedures, for vaccine preventable infectious diseases in the UK.)

The best answer is Polycystic Ovarian Syndrome (PCOS), supported by amenorrhea, obesity and acne. High insulin levels are indicative of PCOS and exclude Cushing syndrome (as this is associated with low insulin levels).

The patient history suggests a spontaneous tension pneumothorax which is a life-threatening situation in which excess air is introduced into the pleural space surrounding the lung. When there is a significant amount of air trapped in the pleural cavity, the increasing pressure from this abnormal air causes the lung to shrink and collapse, leading to respiratory distress. This pressure also pushes the mediastinum (including the heart and great vessels) away from its central position, e.g. deviated trachea, and diminishing the cardiac output. Tension pneumothoraxes cause chest pain, extreme shortness of breath, respiratory failure, hypoxia, tachycardia, and hypotension. These are definitively managed by insertion of a chest tube. However, in the emergency setting temporizing measures are needed while chest tube materials are being gathered. In these situations, urgent needle thoracostomy (also called needle decompression) is performed.

Neurogenic shock is a devastating consequence of spinal cord injury (SCI), also known as vasogenic shock. Injury to the spinal cord results in sudden loss of sympathetic tone, which leads to the autonomic instability that is manifested in hypotension, bradyarrhythmia, and temperature dysregulation. Spinal cord injury is not to be confused with spinal shock, which is a reversible reduction in sensory and motor function following spinal cord injury. Neurogenic shock is associated with cervical and high thoracic spine injury. Early identification and aggressive management are vital in neurogenic shock to prevent secondary spinal injury.

Mongolian spots are, hyper-pigmented, non-blanching patches present on the back and gluteal region at birth. They are commonly found in African and Asian ethnic groups, and can also present in infants of Mediterranean and middle eastern descent. Though the spots usually disappear by puberty, some may persist into adulthood.

The inferior alveolar nerve supplies all the teeth of the respective hemimandible. It transverses the inferior alveolar canal and is a branch of the trigeminal nerve’s mandibular division. Therefore, in this case, the teeth of the right hemimandible will be numb.

Psoriasis is an autoimmune dermatological condition that causes cells of the epidermal layer to rapidly develop, leading to itchy scaly plaques. Phototherapy with UV radiation has emerged as a new treatment for difficult to treat psoriasis. The therapy works by inducing epidermal cell apoptosis by DNA damage through the formation of pyrimidine dimerization, disrupting the cell cycle. This slows the rapid proliferation of cells.

An important predictor of the foetal well-being is the evaluation of amniotic fluid volumes, commonly done using ultrasonography. Amniotic fluid index (AFI) is calculated by measuring the largest vertical diameter of the fluid pocket in all four quadrants of the uterine cavity and then added together. Oligohydramnios or decreased amniotic fluid volume can be defined as an AFI less than 5cm and occurs in about 4-5% of the pregnancies. It is associated with a number of foetal abnormalities and complications. Foetal abnormalities that lead to oligohydramnios include premature rupture of membranes, intrauterine growth retardation, and congenital foetal abnormalities among others. A single umbilical artery is an anatomical defect of the umbilical cord, which leads to IUGR, uteroplacental insufficiency and may be associated with multiple congenital abnormalities as well, which all ultimately lead to the development of oligohydramnios. It also leads to multiple complications, out of which the incidence of chorioamnionitis is very high. Other complications include fetal growth retardation, limb contractures, GI atresia, and even fetal death.

The patient is most likely to have Bulimia nervosa. A young girl with a low body mass contributes to the low urea. Hypokalaemia and hyponatraemia are due to vomiting. Her urine sodium is also low.- In Addison’s diseases, there are low levels of sodium and high levels of potassium in the blood. In acute adrenal crisis: The most consistent finding is elevated blood urea nitrogen (BUN) and creatinine. Urinary and sweat sodium also may be elevated. – In Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) there is hyponatremia with corresponding hypo-osmolality, continued renal excretion of sodium, urine less than maximally dilute and absence of clinical evidence of volume depletion.

A lucid interval, in which the patient portrays a temporary improvement in condition after a traumatic brain injury, is especially indicative of an epidural haematoma.

Based on the presentation, the child most probably is suffering from a refractive error.Astigmatism, myopia and high hypermetropia could all cause these symptoms. This child has difficulty in using vision for finer tasks such as reading. Mild to moderate refractive error would not impair the child’s ability to play or even watch television as for the child in question. Note: Refractive error is the most common treatable cause of reduced vision in children all over the world! Other options:- A congenital cataract is rare and retinal dystrophy is even rarer. – Amblyopia would suggest poor vision in only one eye, something that might not cause symptoms in this age group. – Parents or teachers would have probably noticed squint if it was present.

According to WHO, the treatment protocol in severely dehydrated children, is to infuse a bolus of isotonic crystalloid over 20-30 min at 30ml/kg to children less than 12 months of age followed by giving the remaining fluid over 5 hours for infants. Reference: World Health Organisation, the treatment of diarrhoea, a manual for physical and senior health workers.

Pale, bulky, malodorous stools are evidence of fat malabsorption syndrome. The diagnostic test is jejunal biopsy to rule out other differential diagnoses such as celiac disease, giardiasis or Crohn’s disease etc.

Power calculations are a important step in study design and preparation, but do not directly help with the interpretation of the results. They are used to determine how many subjects are needed in order to avoid errors in accepting or rejecting the null hypothesis. These calculations are not usually complex and for the best results, the power of the test should be set to above 80%.

Puberty is the general term for the transition from sexual immaturity to sexual maturity. There are two main physiological events in puberty:- Gonadarche is the activation of the gonads by the pituitary hormones follicle-stimulating hormone (FSH) and luteinizing hormone (LH).- Adrenarche is the increase in production of androgens by the adrenal cortex. It is the term for the maturational increase in adrenal androgen production that normally becomes biochemically apparent at approximately six years of age in both girls and boysA number of other terms describe specific components of puberty:- Thelarche is the appearance of breast tissue, which is primarily due to the action of oestradiol from the ovaries. – Menarche is the time of first menstrual bleed. – Pubarche is the appearance of pubic hair, which is primarily due to the effects of androgens from the adrenal gland. The term is also applied to first appearance of axillary hair, apocrine body odour, and acne.The earliest detectable secondary sexual characteristic on physical examination in most girls is breast/areolar development (thelarche). Ovarian enlargement and growth acceleration typically precede breast development but are not apparent on a single physical examination. Oestrogen stimulation of the vaginal mucosa causes a physiologic leukorrhea, which is a thin, white, non-foul-smelling vaginal discharge that typically begins 6 to 12 months before menarche. Menarche occurs, on average, 2 to 2.5 years after the onset of puberty

The progesterone is primarily responsible for preventing pregnancy. The main mechanism of action is the prevention of ovulation| they inhibit follicular development and prevent ovulation. Progestogen negative feedback works at the hypothalamus to decreases the pulse frequency of gonadotropin-releasing hormone. This, in turn, will decrease the secretion of follicle-stimulating hormone (FSH) and decreases the secretion of luteinizing hormone (LH). If the follicle isn’t developing, then there is no increase in the oestradiol levels (the follicle makes oestradiol). The progestogen negative feedback and lack of oestrogen positive feedback on LH secretion stop the mid-cycle LH surge. With no follicle developed and no LH surge to release the follicle, there is the prevention of ovulation. Oestrogen has some effect with inhibiting follicular development because of its negative feedback on the anterior pituitary with slows FSH secretion| it’s just not as prominent as the progesterone’s effect. Another primary mechanism of action is progesterone’s ability to inhibit sperm from penetrating through the cervix and upper genital tract by making the cervical mucous unfriendly. Progesterone induced endometrial atrophy should deter implantation, but there is no proof that this occurs.

Gait variations in children are usually physiologically normal and only become a cause of concern when they persist or are associated with pain or other medical symptoms. Genu varus, also known as knock knees causes an outward rotation of the leg, leading the toes pointing outwards. The condition usually resolves by the age of 18 months. In comparison, in- toeing occurs with genu varus. Metatarsus adductus is also associated with an inward pointing of the toes.

Doctors must perform an infection screen and treat with intravenous antibiotics for at least 48 hours pending results to prevent neonatal sepsis. Risk factors for neonatal sepsis include rupture of the membranes. Risk factors for neonatal sepsis include rupture of membranes greater than 12–24 hours, intrapartum maternal pyrexia (> 38°C), fetal tachycardia, chorioamnionitis, pre-term birth and maternal colonisation with group B Streptococcus. In this case there are two risk factors: prolonged rupture of membranes, and pre-term birth.

Cranial nerve XI is also known as the accessory nerve. The accessory nerve innervates the trapezius muscle which retracts the scapula. The upper and lower fibres act together to also upwardly rotate it.

Miliaria is a common skin disease caused by blockage and/or inflammation of eccrine sweat ducts. Miliaria is frequently seen in hot, humid or tropical climates, in patients in the hospital, and in the neonatal period. Miliaria is also known as sweat rash.Based on the level of the sweat duct obstruction, miliaria is divided into three subtypes:- Miliaria crystallina (sudamina), caused by obstruction of the sweat ducts close to the surface of the skin (epidermis)|- Miliaria rubra, caused by obstruction of the sweat ducts deeper in the epidermis|- Miliaria profunda (tropical anhidrosis), the result of sweat leaking into the middle layer of skin (dermis).Miliaria crystallina appears as 1–2 mm superficial clear blisters that easily break. The blisters can look like beads of sweat. There is no inflammation. The blisters are usually seen widely spread on the head, neck, and upper trunk.Miliaria rubra is the most common type of miliaria results in red, 2–4 mm, non-follicular papules and papulovesicles. They are very itchy. Background erythema is often present. In children, miliaria affects the skin folds of the neck, axilla or groin. In adults, miliaria often affects the upper trunk, scalp, neck and flexures, particularly areas of friction with clothing. Miliaria pustulosa is a variant of milia rubra in which there are pustules.Miliaria profunda describes asymptomatic deep papules. The flesh–coloured, 1–3 mm diameter papules usually arise on the trunk and extremities.Mild Topical steroids can be used as a treatment

Treacher Collins syndrome is a congenital disorder transmitted in an autosomal dominant fashion. The basic abnormality is the TCOF 1 gene mutation, which leads to a multitude of clinical features, of which the most striking is the symmetrical craniofacial deformities. Important clinical features include conductive deafness, coloboma of lower eyelids, cleft palate, antimongoloid (short and downward slanting) palpebral fissures, deformed or absent ears, sleep apnoea, and airway issues. Hirsutism is not a recognized feature of this syndrome.

Because of the patient’s history of chronic analgesic use of daily paracetamol intake, the most likely diagnosis of this case is Analgesic misuse headache. In these cases, the headache is only temporarily relieved by analgesics. Treatment involves gradual withdrawal of analgesics.

Factors V and VIII are consumed most rapidly in a patient with disseminated intravascular coagulation.Simultaneous coagulation and haemorrhage caused by initially formation of thrombi which consume clotting factors (factors 5,8) and platelets, ultimately leading to bleeding.Causes include:- Infection- Malignancy- Trauma e.g. major surgery, burns, shock, dissecting aortic aneurysm- Liver disease- Obstetric complicationsClinically bleeding is usually a dominant feature, bruising, ischaemia and organ failure.Blood tests reveal prolonged clotting times, thrombocytopenia, decreased fibrinogen and increased fibrinogen degradation products.Treatment of DIC involves treating the underlying cause and supportive management.Mnemonic:D-I-S-S-E-M-I-N-A-T-E-DD- D dimerI-Immune complexesS-Snakebite, shock, heatstrokeS-SLEE-Eclampsia, HELLP syndromeM-Massive tissue damageI-Infections: viral and bacterialN-NeoplasmsA-Acute promyelocytic leukaemiaT-Tumour products: Tissue Factor (TF) and TF-like factors released by carcinomas of pancreas, prostate, lung,colon, stomachE-Endotoxins (bacterial)D-Dead foetus (retained)

Clinical diagnosis of neurofibromatosis type 1 requires the presence of at least 2 of 7 criteria to confirm the presence of neurofibromatosis, type 1. Many of these signs do not appear until later childhood or adolescence, and thus confirming the diagnosis often is delayed despite a suspicion of NF1. The 7 clinical criteria used to diagnose NF1 are as follows:- Six or more café-au-lait spots or hyperpigmented macules greater than 5 mm in diameter in prepubertal children and greater than 15 mm postpubertal- Axillary or inguinal freckles (>2) – Two or more typical neurofibromas or one plexiform neurofibroma- Optic nerve glioma- Two or more iris hamartomas (Lisch nodules), often identified only through slit-lamp examination by an ophthalmologist- Sphenoid dysplasia or typical long-bone abnormalities such as pseudarthrosis- A first-degree relative (e.g., mother, father, sister, brother) with NF1

Scaphoid fractures are regarded as fractures that are difficult to heal, so a classification system is needed taking different factors into account that should lead towards proper guidance to the healing time and management of these fractures. Popular classification criteria are Herbert, Russe, and Mayo classification systems. Herbert’s classification system is based on the fracture’s stability and proposes that all complete bicortical fractures (except for tubercle fractures) are unstable. Salter-Harris classification is used for categorizing epiphyseal fractures, while Delbert classification system is reserved for fractures of the proximal femur in children. Fractures of the ankles are classified using Ottawa rules, and Garland classification is used for supracondylar fractures in children.

Peutz-Jeghers syndrome is an autosomal dominant genetic disease. It presents with hyperpigmentation patches on the oral mucosa, lips, palm and soles, and nasal alae. It also presents with hamartomatous polyps in the gut, hence the fresh blood in this particular case.

According to APLS, your next step should be one of the following: synchronous DC shock, amiodarone, or cardiology advice for alternative antiarrhythmics.

Orbital bone fracture: The child has sustained a head injury and subsequently describes a CSF rhinorrhoea (indicating a cerebro-spinal fluid leak). CSF rhinorrhoea can occur in skull or nasal bone fractures. Given the symptoms of loss of consciousness and headache, this child is more at risk of having suffered a skull fracture requiring emergency CT head investigation and specialist neurosurgical management. An ethmoid bone fracture may also present this way. A skull x ray would help to determine an air fluid level and indeed allow some visualisation of the nasal bones, though in children the nasal bones do not visualise well due to lack of fusion. Either way this child would need assessment in the nearest Emergency Department and the school would be expected to follow a ‘head injury’ protocol.

Hypertrophic villi is a response to chronic irritation by allergic reactions

Based on the clinical scenario, the most likely risk factor in this child to develop gallstones is sickle cell disease.Note:Haemolysis is the most frequent cause for gallstones in children and the likeliest cause because of his ethnicity would be sickle cell disease. The gallstones are pigmented which form from bilirubin. 70% of patients with sickle cell disease will develop gallstones| the prevalence of gallstones is related to the rate of haemolysis.Other options:- Gilbert’s syndrome: it is a common condition in which bilirubin glucuronidation (i.e. converting bilirubin into a water-soluble form) is affected. During times of stress (viral illness, fasting, etc.) there is an excess bilirubin production, and jaundice may develop. It is a benign condition but there is some evidence of an increased risk of developing gallstones. However, sickle cell disease is a more likely risk factor in this case.- Hereditary spherocytosis: Hereditary spherocytosis is a disease of the white population and is less likely to be the underlying cause in this case.- Male gender: After puberty, the incidence of gallstones is higher in women. Before puberty, the incidence is equal.- Obesity: Obesity is a risk factor for gallstones and is thought to be behind the rising incidence among young adults. Nevertheless, haemolytic states remain the most common reason for gallstones in children.

The clinical presentation is suggestive of congenital rubella syndrome. The classic triad of presenting symptoms includes sensorineural hearing loss, ocular abnormalities (cataract, infantile glaucoma, and pigmentary retinopathy) and congenital heart disease (patent ductus arteriosus and pulmonary artery stenosis). Other findings in congenital rubella syndrome include CNS abnormalities (mental retardation, behavioural disorders, encephalographic abnormalities, hypotonia, meningoencephalitis, and microcephaly), hepatosplenomegaly, and jaundice.

Answer: Spontaneous bacterial peritonitisThe presence of periorbital and facial oedema with normal blood pressure in this toddler indicates that he has nephrotic syndrome. Nephrotic syndrome can be associated with a series of complications that can affect an individual’s health and quality of life:Spontaneous bacterial peritonitis can develop where there is ascites present. This is a frequent development in children but very rarely found in adults.Spontaneous bacterial peritonitis (SBP) is the development of a bacterial infection in the peritoneum, despite the absence of an obvious source for the infection. It is specifically an infection of the ascitic fluid – an increased volume of peritoneal fluid. Ascites is most commonly a complication of cirrhosis of the liver. It can also occur in patients with nephrotic syndrome. SBP has a high mortality rate.The diagnosis of SBP requires paracentesis, a sampling of the peritoneal fluid taken from the peritoneal cavity. If the fluid contains large numbers of white blood cells known as neutrophils (>250 cells/µL), infection is confirmed and antibiotics will be given, without waiting for culture results. In addition to antibiotics, infusions of albumin are usually administered.Signs and symptoms of spontaneous bacterial peritonitis (SBP) include fevers, chills, nausea, vomiting, abdominal pain and tenderness, general malaise, altered mental status, and worsening ascites. Thirteen percent of patients have no signs or symptoms. In cases of acute or chronic liver failure SBP is one of the main triggers for hepatic encephalopathy, and where there is no other clear causal indication for this, SBP may be suspected.These symptoms can also be the same for a spontaneous fungal peritonitis (SFP) and therefore make a differentiation difficult. Delay of diagnosis can delay antifungal treatment and lead to a higher mortality rate.

Based on the clinical scenario provided, this patient most probably has impacted gall stones. Gall stones in children can be caused by haematological diseases such as sickle cell anaemia and thalassemia. Cholesterol stones are also becoming more prevalent. A dilated common bile duct (> 10mm in adults) suggests gall stone impaction. The presence of pyrexia indicates cholecystitis.

A periosteal reaction can result from a large number of causes, including injury and chronic irritation due to a medical condition such as hypertrophic osteopathy, bone healing in response to fracture, chronic stress injuries, subperiosteal hematomas, osteomyelitis, and cancer of the bone. This history is consistent with a toddler’s fracture. Here a minor, usually twisting, injury results in a spiral fracture of the tibia. An initial X-ray may appear normal as the periosteum holds the bone together preventing displacement. Ten days later a repeat X-ray will show callous formation and confirm the diagnosis.

The most likely causative organism for the symptoms of this child is Giardia lamblia.Giardiasis results in fat malabsorption thus giving rise to greasy stools. It is resistant to chlorination, hence has a risk of transfer in swimming pools.World Health Organisation definitions- Diarrhoea: > 3 loose or watery stool per day- Acute diarrhoea < 14 days- Chronic diarrhoea > 14 daysConditions that usually present as acute diarrhoea:- Gastroenteritis: It may be accompanied by abdominal pain or nausea/vomiting.- Antibiotic therapy: Can occur following antibiotic therapy, especially common with broad spectrum antibiotics.Conditions that usually present as chronic diarrhoea:- Irritable bowel syndrome: It is a very common disease.The most consistent features are abdominal pain, bloating and change in bowel habit. Patients may be divided into those with diarrhoea predominant IBS and those with constipation-predominant IBS.Features such as lethargy, nausea, backache and bladder symptoms may also be present in these patients.- Ulcerative colitis: It presents as bloody diarrhoea. Patients can also present with crampy abdominal pain and weight loss. Faecal urgency and tenesmus may be seen.- Crohn’s disease: It is also associated with crampy abdominal pains and diarrhoea. Bloody diarrhoea less common than in ulcerative colitis. Other features include malabsorption, mouth ulcers perianal disease and intestinal obstruction – Colorectal cancer: It is very rare in children. The symptoms depend on the site of the lesion but include diarrhoea, rectal bleeding, anaemia and constitutional symptoms like weight loss and anorexia.- Coeliac disease: In children, it may present with failure to thrive, diarrhoea and abdominal distension.Other conditions associated with diarrhoea include thyrotoxicosis, laxative abuse, appendicitis, and radiation enteritis.

The most common position of the appendix is the retrocecal position.Note: If a retrocecal appendix is difficult to remove, then mobilisation of the right colon significantly improves access.Other options:The various positions of the appendix are:- Retrocecal (74%)- Pelvic (21%)- Postileal- Subcaecal- Paracaecal- Preileal

Ipecac, or syrup of ipecac (SOI), is a medication once used to induce vomiting. Its medical use has virtually vanished, and it is no longer recommended for routine use in toxic ingestion. The abuse of SOI as a purgative in eating disorders, however, is increasing. Ipecac has a high safety profile. Common side effects include prolonged vomiting (greater than 1 hour), lethargy, somnolence, diarrhoea, fever, irritability. More severe complications can consist of aspiration pneumonia, Mallory-Weiss tears, pneumomediastinum, and gastric rupture.The abuse of syrup of ipecac by patients with major eating disorders have been shown to have toxic effects on the skeletal and cardiac muscle.

Cystic fibrosis is a genetic disease that interferes with the normal development of the child. It manifests with recurrent episodes of pneumonia accompanied by coughing, wheezing and dyspnoea. The appetite is normal but weight gain seems difficult. This condition also affects bowel habits with repeated gastrointestinal infections. The gold standard for the diagnosis is considered the sweat test which reveals abnormally high levels of Cl-.

Based on the clinical scenario provided, the most probable nerve injured in this patient would be the trochlear nerve. The trochlear nerve has a relatively long intracranial course, and this makes it vulnerable to injury in head trauma. Head trauma is the most frequent cause of acute fourth nerve palsy. A 4th nerve palsy is the most common cause of vertical diplopia. The diplopia is at its worst when the eye looks medially which it usually does as part of the accommodation reflex when walking downstairs.

Projectile vomiting is the hallmark symptom of hypertrophic pyloric stenosis. It is the most common cause of intestinal obstruction in infancy, which has a male-to-female predominance of 4-5:1. Current management recommendations include ultrasonography for diagnosis, correction of electrolytes, and surgical intervention.

CMPI ( cow’s milk protein intolerance) is an immunological reaction to one or more of the many proteins found in cow’s milk. It may be IgE mediated or non-IgE mediated. The prominent signs and symptoms include sneezing, rhinorrhoea, coughing, wheezing, oral angioedema, oral itching, diarrhoea, vomiting, and bloody stools. Steatorrhea is not a recognized feature of CMPI.

Hyperkinetic Gait is seen with certain basal ganglia disorders including Sydenham’s chorea, Huntington’s Disease and other forms of chorea, athetosis or dystonia. The patient will display irregular, jerky, involuntary movements in all extremities. Walking may accentuate their baseline movement disorder.

Torsade de pointes is an uncommon and distinctive form of polymorphic ventricular tachycardia (VT) characterized by a gradual change in the amplitude and twisting of the QRS complexes around the isoelectric line.Conditions associated with torsade include the following:Electrolyte abnormalities – Hypokalaemia, hypomagnesemia, hypocalcaemiaEndocrine disorders – Hypothyroidism, hyperparathyroidism, pheochromocytoma, hyperaldosteronism, hypoglycaemiaCardiac conditions – Myocardial ischemia, myocardial infarction, myocarditis, bradyarrhythmia, complete atrioventricular (AV) block, takotsubo cardiomyopathyIntracranial disorders – Subarachnoid haemorrhage, thalamic hematoma, cerebrovascular accident, encephalitis, head injuryNutritional disorders – Anorexia nervosa, starvation, liquid protein diets, gastroplasty and ileojejunal bypass, celiac diseaseRisk factors for torsade include the following:Congenital long QT syndromeFemale genderAcquired long QT syndrome (causes of which include medications and electrolyte disorders such as hypokalaemia and hypomagnesemia)BradycardiaBaseline electrocardiographic abnormalitiesRenal or liver failure

Meconium ileus equivalent (MIE) can be defined as a clinical manifestation in cystic fibrosis (CF) patients caused by acute intestinal obstruction by putty-like faecal material in the cecum or terminal ileum. A broader definition includes a more chronic condition in CF patients with abdominal pain and a coecal mass which may eventually pass spontaneously. The condition occurs only in CF patients with exocrine pancreatic insufficiency (EPI). It has not been seen in other CF patients nor in non-CF patients with EPI. The frequency of these symptoms has been reported as 2.4%-25%. The treatment should primarily be non-operative. Specific treatment with N-acetylcysteine, administrated orally and/or as an enema is recommended. Enemas with the water soluble contrast medium, meglucamine diatrizoate (Gastrografin), provide an alternative form for treatment and can also serve diagnostic purposes. It is important that the physician is familiar with this disease entity and the appropriate treatment with the above mentioned drugs. Non-operative treatment is often effective, and dangerous complications following surgery can thus be avoided.

The most important test recommended among the given options is the measurement of creatine kinase levels.The child presents with a gross motor developmental delay, and multiple investigations can be undertaken to confirm the diagnosis. However, the clinching point in the given clinical scenario is the presence of a positive Gower’s sign.Gower’s sign is an excellent screening test for muscle weakness, which is typically observed as an early clinical feature of Duchenne muscular dystrophy (DMD).Creatinine kinase measurement is an easy and rapid test to aid in the diagnosis. Early diagnosis has significant implications not only for the child but for the family, particularly for genetic counselling. DMD is an X-linked recessive disorder, with an abnormal gene at the X chromosome at the Xp21 locus. It is a progressive degenerative muscular condition where muscle fibres are replaced by fat and fibrosis (i.e., become dystrophic).

Administration of IV prostaglandin/PGE1 (e.g., alprostadil) is indicated in ductal-dependent CHDs until surgery can be performedMechanism: prostaglandin prevents the ductus arteriosus from closing → creates intentional shunt to allow mixing of deoxygenated with oxygenated blood.

Before the test, the patient was likely to have the disease being tested for. Their pre test odds were 2, making them twice as likely to have the disease. After testing positive, their pretest odds of 2 and the likelihood ratio of 3 are multiplied to produce 6 as the post test odds. The patient is now 6 times as likely to have the disease after the test. Likelihood ratios above 10 or below 0.1 are strong evidence to rule in and rule out a diagnosis. The negative likelihood ratio is not known here, but does not subtract from the interpretation of the outcomes in this patient.

Point mutations are the type of mutations in which only a single nucleotide of the DNA is either deleted, substituted or a new single nucleotide is inserted into the DNA, causing alterations in the original normal DNA sequencing. The examples of point mutations include hemochromatosis, sickle cell disease, and Tay-Sach’s disease. Huntington’s disease is a trinucleotide repeat disorder. Down’s syndrome is characterized by an extra copy of chromosome 21, while Klinefelter syndrome is marked by an extra X chromosome. Fragile X syndrome is also a trinucleotide repeat disorder.

Jaundice is considered pathologic if it presents within the first 24 hours after birth. Although up to 60 percent of term new-borns have clinical jaundice in the first week of life, few have significant underlying disease.1,2 However, hyperbilirubinemia in the new-born period can be associated with severe illnesses such as haemolytic disease, metabolic and endocrine disorders, anatomic abnormalities of the liver, and infections. The risk factors here is the mothers blood ground which suggests the cause is fetal-maternal blood group incompatibility.

The child’s problem should be assessed properly to find the reason for unhappiness at the school. There can be many reasons such as bullying at school, abuse etc. A clinical psychologist should assess this child to take the necessary details and plan the further management.

3-year-old milestones:Social and Emotional:- Copies adults and friends – Shows affection for friends without prompting – Takes turns in games – Shows concern for crying friend – Understands the idea of “mine” and “his” or “hers” – Shows a wide range of emotions – Separates easily from mom and dad – May get upset with major changes in routine- Dresses and undresses self Language/Communication- Follows instructions with 2 or 3 steps – Can name most familiar things – Understands words like “in,” “on,” and “under” – Says first name, age, and sex- Names a friend – Says words like “I,” “me,” “we,” and “you” and some plurals (cars, dogs, cats) – Talks well enough for strangers to understand most of the time – Carries on a conversation using 2 to 3 sentencesCognitive (learning, thinking, problem-solving)- Can work toys with buttons, levers, and moving parts – Plays make-believe with dolls, animals, and people – Does puzzles with 3 or 4 pieces – Understands what “two” means – Copies a circle with a pencil or crayon – Turns book pages one at a time – Builds towers of more than 6 blocks – Screws and unscrews jar lids or turns the door handleMovement/Physical Development- Climbs well – Runs easily – Pedals a tricycle (3-wheel bike) – Walks up and downstairs, one foot on each stepDoing up buttons is a skill more usually seen in 5-year-olds.

Pityriasis rosea is a common, acute exanthem of uncertain aetiology. Viral and bacterial causes have been sought, but convincing answers have not yet been found. Pityriasis rosea typically affects children and young adults. It is characterized by an initial herald patch, followed by the development of a diffuse papulosquamous rash. The herald patch often is misdiagnosed as eczema. Pityriasis rosea is difficult to identify until the appearance of characteristic smaller secondary lesions that follow Langer’s lines (cleavage lines). Several medications can cause a rash similar to pityriasis rosea, and several diseases, including secondary syphilis, are included in the differential diagnosis.

The nerve supply to the tensor tympani is the mandibular nerve.The mandibular nerve is the only division of the trigeminal nerve that carries motor fibres.Tensor tympani is a muscle that lies in a bony canal just superior to the pharyngotympanic tube. It originates from the cartilaginous portion of the pharyngotympanic tube, the bony canal in which it sits, and the greater wing of the sphenoid bone. It inserts into the upper part of the handle of the malleus. When contracted, it pulls the handle of the malleus medially. This action increases the tension across the tympanic membrane, reducing the magnitude of vibrations transmitted into the middle ear. This dampens loud noises or noises produced by chewing. Tensor tympani is innervated through the nerve to tensor tympani, which arises from the mandibular nerve.Other options:- The vestibulocochlear nerve is the eighth cranial nerve. This nerve has two components, a vestibular division that carries balance information, and a cochlear division that carries hearing information.- The glossopharyngeal nerve is the ninth cranial nerve. It has a wide range of functions. It carries taste and sensation from the posterior third of the tongue, as well as sensation from the pharyngeal wall and tonsils, the middle ear, external auditory canal and auricle. It carries parasympathetic fibres that supply the parotid gland. It also supplies the baroreceptors and chemoreceptors of the carotid sinus and supplies the secretomotor fibres to the parotid gland.- The maxillary nerve carries only sensory fibres.- The facial nerve is the seventh cranial nerve. It supplies the muscles of facial expression, as well as stylohyoid, the posterior belly of digastric, and stapedius (the only other muscle associated with the middle ear). It carries taste from the anterior two-thirds of the tongue and sensation from part of the external acoustic meatus, parts of the auricle and the retro-auricular area. It provides secretomotor fibres which supply to the submandibular gland, sublingual gland (via chorda tympani nerve), nasal glands and lacrimal glands.

Infective endocarditis (IE) is defined as an infection of the endocardial surface of the heart.Fever, possibly low-grade and intermittent, is present in 90% of patients with IE. Heart murmurs are heard in approximately 85% of patients.One or more classic signs of IE are found in as many as 50% of patients. They include the following:- Petechiae: Common, but nonspecific, finding- Subungual (splinter) haemorrhages: Dark-red, linear lesions in the nail beds -Osler nodes: Tender subcutaneous nodules usually found on the distal pads of the digits- Janeway lesions: Nontender maculae on the palms and soles- Roth spots: Retinal haemorrhages with small, clear centres| rareSigns of neurologic disease, which occur in as many as 40% of patients, include the following:- Embolic stroke with focal neurologic deficits: The most common neurologic sign- Intracerebral haemorrhage- Multiple microabscessesOther signs of IE include the following:- Splenomegaly- Stiff neck- Delirium- Paralysis, hemiparesis, aphasia- Conjunctival haemorrhage- Pallor- Gallops- Rales- Cardiac arrhythmia- Pericardial rub- Pleural friction rub

The hypoglossal nerve (CN XII) provides motor innervation to all of the intrinsic and extrinsic muscles of the tongue except for the palatoglossus muscle, which is innervated by the vagus nerve (CN X). It runs superficial to the hyoglossus muscle. Lesions of the hypoglossal nerve cause deviation of the tongue to the ipsilateral (i.e., damaged) side.Taste to the anterior two-thirds of the tongue is achieved through innervation from the chorda tympani nerve, a branch of the facial nerve (CN VII). General sensation to the anterior two-thirds of the tongue is by innervation from the lingual nerve, a branch of the mandibular branch of the trigeminal nerve (CN V3). The lingual nerve is located deep and medial to the hyoglossus muscle and is associated with the submandibular ganglion.On the other hand, taste to the posterior one-third of the tongue is accomplished through innervation from the glossopharyngeal nerve (CN IX), which also provides general sensation to the posterior one-third of the tongue.Taste perception also is performed by both the epiglottis and the epiglottic region of the tongue, which receives taste and general sensation from innervation by the internal laryngeal branch of the vagus nerve (CN X). Damage to the vagus nerve (CN X) causes contralateral deviation (i.e., away from the injured side) of the uvula.

The patient has bloody diarrhoea that sounds like a food poisoning in the clinical scenario. Campylobacter is the most common cause of this in the United Kingdom. This is then followed by Salmonella and Shigella. The symptoms are usually self limiting. This is more likely to be bacterial from the food than a viral gastroenteritis.

Among the options provided, zidovudine causes lipoatrophy as a side effect.Zidovudine: Although both hypertrophy and atrophy are described related to HIV medications, nucleoside reverse transcriptase inhibitor (NRTIs) such as zidovudine and stavudine are closely associated with fat loss.Other options:- Enfuvirtide is an HIV-fusion inhibitor. Lipoatrophy is not commonly associated with this drug.- Efavirenz is an NNRTI, which is not associated with lipoatrophy. Common side effects include neuropsychiatric effects, rash and nausea. – Ganciclovir is not an anti-HIV medication and is used for cytomegalovirus (CMV) infections.- Raltegravir is an integrase inhibitor and is associated with fat gain.

Based on the studies, genetic factors are responsible for approximately 60 % DVT cases. Factor V (FV) Leiden which is the most common cause of inherited thrombophilia, predisposes patients to DVT because of resistance to protein C.The heritable causes of deep vein thrombosis, from most to least common are:Factor V LeidenProthrombin G20210A variantProtein C deficiencyProtein S deficiencyAntithrombin deficiencyVon Willebrand disease and thalassaemia are not causes of DVT.

Hypospadias is an abnormality of anterior urethral and penile development. The urethral opening is located on the ventral aspect of the penis proximal to the tip of the glans penis, which, in this condition, is open. The urethral opening may be located as proximal as in the scrotum or perineum. The penis may also have associated ventral shortening and curvature, called chordee, with more proximal urethral defects.

The symptoms of excessive salivation and diarrhoea, along with hypotension, bradycardia, and bronchoconstriction, indicates excess parasympathetic nervous system activity. The patient is showing features of acetylcholine toxicity. Pesticides typically contain organophosphates that are potent inhibitors of acetylcholinesterase. This enzyme is responsible for the metabolism of acetylcholine. Acetylcholine is the neurotransmitter used in the neuromuscular junction, as well as at select points in the autonomic nervous system. The autonomic acetylcholine receptors can be nicotinic (more sensitive to nicotine) or muscarinic (more sensitive to muscarine). The most relevant receptors in this scenario are the muscarinic receptors as the majority are located in the parasympathetic nervous system smooth muscle, exocrine glands, and cardiac conduction system.Other options:- Accordingly, to cause the symptoms described, there must be an abundance of acetylcholine which stimulates the muscarinic receptors to enhance the parasympathetic effects. Therefore the reduction in the formation of acetylcholine option must be incorrect as this would produce the opposite effect. – Noradrenaline is the primary neurotransmitter in the sympathetic nervous system, and both answer options relating to noradrenaline would increase the neurotransmitter and potentiate the sympathetic nervous system effects, making them incorrect.Features can predict the accumulation of acetylcholine (mnemonic = SLUD):- Salivation- Lacrimation- Urination- Defecation/diarrhoeaCardiovascular symptoms include hypotension and bradycardia. The patient can show associated small pupils and muscle fasciculationManagement:- Atropine- The role of pralidoxime is still unclear – meta-analyses to date have failed to show any clear benefit.

Low oxygen delivery in hypotension, hypoxia, oedema, intracranial hypertension or changes in cerebral blood flow should all be prevented to avoid secondary brain injury. There is no evidence to suggest that hypothermia prevents secondary brain injuries.

Prophylactic antibiotics should be given to the child to avoid infections and renal injury.

Pubic lice are commonly referred to as ‘crabs’ because of their short, broad body (about 1 mm), and large front claws. Pubic lice infestation is diagnosed by finding a “crab” louse or eggs on hair in the pubic region or, less commonly, elsewhere on the body (eyebrows, eyelashes, beard, moustache, armpit, perianal area, groin, trunk, scalp). Although pubic lice and nits can be large enough to be seen with the naked eye, a magnifying lens may be necessary to find lice or eggs.Pubic lice are transmitted from person to person most-commonly via sexual contact, although fomites (bedding, clothing) may play a minor role in their transmission.

Adenoid tissue sometimes swell as a result of fighting off the infection as germs are trapped in the adenoids. Adenoid enlargement is suspected.

Still’s disease is a rare systemic disorder that accounts for 10% of cases of juvenile idiopathic arthritis (JIA). The aetiology is unknown. It affects boys and girls equally up to the age of five years of age, following which, girls are more commonly affected. Clinical features of this disease include:- Fever- Maculopapular rash- Myalgia- Generalised lymphadenopathy- Hepatosplenomegaly- Pericarditis and pleuritis Laboratory investigations reveal raised ESR and CRP. There can also be coexisting neutrophilia and thrombocytosis. Anti-nuclear autoantibodies and rheumatoid factor are usually negative in patients with Still’s disease.On the rare case that they are present, their titres are generally low.

In this particular case, the symptoms and signs are suggestive for congenital dislocation of the hip. There are several risk factors present including, a breech delivery, female gender (female:male = 6:1) and oligohydramnios. It is also more common in the left hip than the right.

Hypopigmentation refers to a decrease in the amount of the pigment melanin in the skin, which leads to an abnormally lighter skin tone. Hypopigmentation can be generalized or localized. Generalized hypopigmentation occurs in albinism or can be ethnicity related. Causes of localized hypopigmentation include Incontinentia pigmenti, Lichen planus, Tuberous sclerosis, Piebaldism, vitiligo, and leprosy. Celiac disease is not associated with hypopigmentation.

Cluster headaches present with unilateral severe headache that may be associated with ipsilateral cranial autonomic symptoms including| lacrimation, rhinorrhoea, ophthalmic injection, and occasionally, Horner syndrome (ipsilateral miosis, ptosis, and facial anhidrosis).

Answer: MittelschmerzMittelschmerz is midcycle abdominal pain due to leakage of prostaglandin-containing follicular fluid at the time of ovulation. It is self-limited, and a theoretical concern is treatment of pain with prostaglandin synthetase inhibitors, which could prevent ovulation. The pain of mittelschmerz usually occurs in the lower abdomen and pelvis, either in the middle or to one side. The pain can range from a mild twinge to severe discomfort and usually lasts from minutes to hours. In some cases, a small amount of vaginal bleeding or discharge might occur. Some women have nausea, especially if the pain is very strong.Diagnosis of pelvic pain in women can be challenging because many symptoms and signs are insensitive and nonspecific. As the first priority, urgent life-threatening conditions (e.g., ectopic pregnancy, appendicitis, ruptured ovarian cyst) and fertility-threatening conditions (e.g., pelvic inflammatory disease, ovarian torsion) must be considered. Many women never have pain at ovulation. Some women, however, have mid-cycle pain every month, and can tell by the pain that they are ovulating.As an egg develops in the ovary, it is surrounded by follicular fluid. During ovulation, the egg and the fluid, as well as some blood, are released from the ovary. While the exact cause of mittelschmerz is not known, it is believed to be caused by the normal enlargement of the egg in the ovary just before ovulation. Also, the pain could be caused by the normal bleeding that comes with ovulation.Pelvic inflammatory disease can be ruled out if the patient is not sexually active.

Cystic fibrosis is a progressive, genetic disease. A defective gene causes a thick, sticky build-up of mucus in the lungs, pancreas, and other organs. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage, and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients. Since the digestive enzymes are not being made, the food is not completely digested making them bulky, smelly, and hard to flush away. Finger clubbing is a prominent feature of cystic fibrosis on most patients.

When a child does not hear the sound in the middle during Weber test, it means they either they have a conductive hearing loss on the side they hear the sound, or a sensorineural hearing loss on the opposite side. Rinne’s test helps distinguish between the two. In this particular case, the hearing loss is most probably conductive due to the middle ear effusion. Therefore, Weber’s test should be localised to the left and Rinne’s should be positive on the right.

The diagnosis of scabies can often be made clinically in patients with a pruritic rash and characteristic linear burrows. Definitive testing relies on the identification of mites or their eggs, eggshell fragments, or scybala. This is best undertaken by placing a drop of mineral oil directly over the burrow on the skin and then superficially scraping longitudinally and laterally across the skin with a scalpel blade. (Avoid causing bleeding.) Scraping 15 or more burrows often produces only 1 or 2 eggs or mites, except in a case of crusted scabies, in which many mites will be present. The sample is placed on a microscope slide and examined under low and high power. Potassium hydroxide should not be used, since it can dissolve mite pellets. Failure to find mites is common and does not rule out the diagnosis of scabies.

Bone age is used to determine the maturation of a child’s bones’ and is used to detect pathological growth. This is done using the X-ray of the wrist. Several conditions can either advance or delay the bone age such that they may not match the child’s chronological age. Bone age is advanced in conditions where there are prolonged or elevated sex hormone levels such as precocious puberty, or in genetic overgrowth conditions such as Beckwith-Wiedemann syndrome. Bone age is delayed in constitutional growth delay, chronic ill health, endocrine disorders such as growth hormone deficiencies or hypothyroidism, genetic disorders such as Trisomy 21, Trisomy 18, and Turner’s syndrome. Obesity is unlikely to cause growth delay.

Non-Hodgkin Lymphoma: The history is of enlarged reticuloendothelial system with abnormalities in all 3 cell lines of the bone marrow (pallor, fever and petechiae). The most likely diagnosis is therefore acute (lymphoblastic) leukaemia. Lymphadenopathy may be prominent: mediastinal nodes are characteristic of T-cell leukaemia. In lymphoma the marrow involvement tends to be much less.

Membranoproliferative glomerulonephritis primarily affects children and young adults, with patients presenting with nephrotic or nephritic syndrome or with asymptomatic renal disease. There are 3 types defined by pathologic features. All three types are associated with hypocomplementemia, but they manifest somewhat different mechanisms of complement activation. This type of glomerulonephritis often progresses slowly to end-stage renal disease, and it tends to recur after renal transplantation, especially type II.

Mature human breast milk is nutrient and enzyme rich, optimal for human infants. The average calorie requirement for a one month old infant is about 100kcal/kg/day. Lactose, the most abundant carbohydrate, is beneficial for the baby’s developing gastro intestinal system. The proteins in mature milk are mostly whey (as compared to a high proportion of casein in cows milk), which digests easily. Other proteins found in breast milk include immunoglobulin, lysozyme, lactoferrin and lactalbumin. In terms of micronutrients, while Vitamin K levels are low in breast milk, Vitamin A, C and E are found in higher concentrations than in cow’s milk.

Burkitt lymphoma is associated with the c-myc gene translocation, usually t(8|14). Burkitt lymphoma is a rare high-grade non-Hodgkin lymphoma endemic to west Africa and the mosquito belt. It has a close association with the contraction of Epstein-Barr virus (EBV). Burkitt lymphoma often presents with symmetrical painless lymphadenopathy, systemic B symptoms (fever, sweats, and weight loss), central nervous system involvement, and bone marrow infiltration. Classically in the textbooks, the patient also develops a large jaw tumour.Other aforementioned options are ruled out because:1. t(9|22)—Chronic myeloid leukaemia2. t(15|17)—Acute promyelocytic leukaemia3. t(14|18)—Follicular Lymphoma4. t(11|14)—Mantle Cell Lymphoma

Eczema is an immune-mediated inflammatory condition of the skin characterized by intense pruritis and scaly rashes over the body. The impact of the disease can be measured by using certain scales, which include the Dermatitis Family Impact (DFI) Questionnaire, infant’s Dermatitis Quality of Life Index, Patient-oriented Eczema Measure, and Children’s Dermatology Life Quality Index among many others. Eczema severity questionnaire is not a recognized scale to determine eczema impact.

The most appropriate action in this baby would be to perform HIV PCR and commence cART and PCP prophylaxis if HIV positive.Treatment guidelines for HIV-positive infants state that all should receive combination antiretroviral therapy (cART) and Pneumocystis jiroveci pneumonia (PJP) prophylaxis, irrespective of CD4 count or viral load.

Becker’s muscular dystrophy is a disease characterised by progressive weakness and wasting of the skeletal and cardiac muscles. It is inherited and primarily affects males.

The most common physiological factors that influence renin secretion include renal perfusion pressure, renal sympathetic nerve activity, and tubular sodium chloride load.The perfusion pressure in the renal artery is the most profound parameter to influence renin secretion| when the renal perfusion pressure falls (i.e. hypovolaemia), renin secretion rises, and vice versa.

The patient has hyperprolactinaemia with otherwise normal oestradiol, FSH and LH. This is highly suggestive of Prolactinoma rather than a non functioning tumour.In polycystic ovaries, there is increase in the level of LH while FSH is normal or low.

Sepsis can be described as a condition in which there is a dysregulated inflammatory response to an infection. In the case of neonates, sepsis can be life threatening and may present with respiratory distress more than 4 hours after birth, shock, seizures, and multi organ failure. Risk factors that further point to sepsis include prolonged rupture of maternal membranes for more than 24 hours before birth, a history of a maternal fever during labour, or parenteral antibiotic treatment given to the mother for a suspected or confirmed bacterial infection.

Neurofibromatosis type 2, also known as schwannomin, is an autosomal dominant genetic disease caused by mutation of the merlin gene located on chromosome 22. Merlin is a tumour suppressor protein, which is responsible for controlling cell shape, growth and adhesion, and is predominantly found in nervous tissue. Its mutation increases the risk of tumour development especially bilateral vestibular schwannomas, the hallmark of neurofibromatosis 2.

Possible Zika virus infections have been identified in breastfeeding babies, but Zika virus transmission through breast milk has not been confirmed. Additionally, we do not yet know the long-term effects of Zika virus on young infants infected after birth. Because current evidence suggests that the benefits of breastfeeding outweigh the risk of Zika virus spreading through breast milk, CDC continues to encourage mothers to breastfeed, even if they were infected or lived in or travelled to an area with risk of Zika.

A patient with Down’s syndrome is likely to be subfertile rather than infertile.Down’s syndrome:The clinical features of Down’s syndrome include:- Face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small ears, and round/flat face- Flat occiput- Single palmar crease, pronounced ‘sandal gap’ in the first interdigital space of the feet.- Hypotonia- Congenital heart defects (40-50%)- Duodenal atresia- Hirschsprung’s diseaseThe cardiac complications in these patients include:- Endocardial cushion defect (40%)- Ventricular septal defect (30%)- Secundum atrial septal defect (10%)- Tetralogy of Fallot (5%)- Isolated patent ductus arteriosus (5%)The complications that occur later in the life of the patient include:- Subfertility: Males are almost always infertile due to impaired spermatogenesis. Females, however, are usually subfertile and have an increased incidence of problems with pregnancy and labour.- Learning difficulties- Short stature- Repeated respiratory infections (+hearing impairment from glue ear)- Acute lymphoblastic leukaemia- Hypothyroidism- Alzheimer’s disease- Atlantoaxial instability

Key Observations:

1. Cyanosis and Low Oxygen Saturation:
   • Central cyanosis indicates mixing of oxygenated and deoxygenated blood.
   • The aortic oxygen saturation is low (76%), indicating a significant amount of deoxygenated blood entering systemic circulation.
2. Pressure Analysis:
   • The right ventricle pressure is significantly elevated (110/6 mmHg), suggesting an obstructive lesion like pulmonary stenosis or an increased volume load due to a shunt.
   • The pulmonary artery pressure is low (20/5 mmHg) despite the high right ventricular pressure, suggesting an obstruction to flow from the right ventricle to the pulmonary artery, consistent with pulmonary stenosis.
3. Oxygen Saturation Analysis:
   • There is a notable drop in oxygen saturation from the left ventricle (87%) to the aorta (76%), indicating a mixture of oxygenated and deoxygenated blood in the systemic circulation, suggestive of a right-to-left shunt.

Differential Diagnosis:

1. Pulmonary Stenosis:
   • Supported by elevated right ventricular pressure and low pulmonary artery pressure.
2. Ventricular Septal Defect (VSD):
   • Would typically cause left-to-right shunting, leading to increased pulmonary blood flow and higher oxygen saturation in the right ventricle and pulmonary artery, which is not observed here.
3. Over-riding Aorta:
   • Seen in conditions like Tetralogy of Fallot where the aorta receives blood from both the right and left ventricles, leading to mixed oxygen saturation.
4. Right-to-Left Shunt:
   • The data indicates a right-to-left shunt, with low oxygen saturation in the aorta, suggesting that deoxygenated blood is bypassing the lungs and entering systemic circulation.
5. Aortic Stenosis:
   • Typically presents with high left ventricular pressure and a pressure gradient between the left ventricle and the aorta, which is not observed here.

Conclusion:

Given the data, the most likely abnormalities present in this patient are Pulmonary Stenosis, Right-to-Left Shunt, and Over-riding Aorta. These findings are consistent with a condition like Tetralogy of Fallot, where all these features are present.

The normal human pancreas contains about 1,000,000 islets. The islets consist of four distinct cell types, of which three (alpha, beta, and delta cells) produce important hormones| the fourth component (C cells) has no known function.The most common islet cell, the beta cell, produces insulin.The alpha cells of the islets of Langerhans produce an opposing hormone, glucagon.The delta cells produce somatostatin, a strong inhibitor of somatotropin, insulin, and glucagon.

The elemental diet is a medically supervised, sole nutrition dietary management given to individuals with moderate to severe impaired gastrointestinal function for 14-21 days.The diet consists of macronutrients broken down into their elemental form requiring little to no digestive functionality allowing time for the gut to rest. Elemental formulations are believed to be entirely absorbed within the first few feet of small intestine.

According per the national guidelines, 5 inflation breaths should be given with a gas pressure of 30cmH2O for term babies. Each breath should be given for 2-3 seconds. Pre-term babies should be aerated with a lower pressure of 20-25cmH2O.

Celiac disease has characteristic shortened intestinal villi. When patients with celiac disease eat products containing gluten, they are unable to absorb the nutrients due to flattened or shortened intestinal villi. The blistering rash present on the patient’s elbows strongly suggests celiac disease. This rash is a sign of the condition Dermatitis Herpetiformis which is associate with celiac disease. Therefore, it is also often called ‘gluten rash’.

Endoderm derivatives include the epithelium of the following: gastrointestinal tract and its glands, glandular cells of the liver and pancreases, urachus and urinary bladder, pharynx, trachea and alveoli, part of the tonsils, thyroid and parathyroid, tympanic cavity and thymus and part of the anterior pituitary gland.

6 month old babies that go through normal developmental milestones, should enjoy playing with others and especially their parents.The other milestones are expected of a 9-month-old.

The likely diagnosis in this case is Haemolytic Uremic Syndrome (HUS), which is generally seen in young children presenting with a triad of symptoms, namely: acute renal failure, microangiopathic haemolytic anaemia, and thrombocytopenia. The typical cause of HUS is ingestion of a strain of Escherichia coli causing diarrhoea in these cases as well.

Arterial blood gas is useful for the evaluation of oxygen and carbon dioxide gas exchange, respiratory function including hypoxia, and acid/base balance. This will quickly indicate if assisted ventilation is required for this patient.

The antiretroviral agent for the side effects mentioned is most probably, efavirenz.Efavirenz is a non-nucleoside reverse transcriptase inhibitor and the most likely cause of new-onset psychiatric symptoms in someone taking HAART. In this scenario the patient had no pre-existing mental health problems, as other antiretrovirals can cause depression and suicidal ideation in those who have a past psychiatric history. Symptoms usually subside after a few weeks of treatment.Other options:- Emtricitabine is a nucleoside reverse transcriptase inhibitor and is also not known to cause psychiatric side effects. The most common side effects of Emtricitabine are rash and darkening of the palms or soles.- Lamivudine is a nucleoside reverse transcriptase inhibitor, which can cause insomnia, but does not commonly cause other psychiatric symptoms.- Rilpivirine is a non-nucleoside reverse transcriptase inhibitor, which can cause depression. However, this is more common in those with a history of mental health problems.- Tenofovir is a nucleotide reverse transcriptase inhibitor. The most common side effect of Tenofovir is gastrointestinal upset. It is not known to cause psychiatric side effects.

The chance of having appendicitis again after appendix mass is around 17% in children. While the traditional teachings by Hamilton Bailey recommend following the conservative Ochsner-Sherren regimen followed by an interval appendicectomy six weeks after the discharge of the patient, there remains a looming controversy whether to perform an interval appendicectomy or not.

Trisomy 21 (Down’s syndrome)is a genetic disorder characterized by the presence of an extra copy of chromosome 21 in all the body cells, mostly due to non-disjunction during gametogenesis. Robertsonian translocation occurs only in about 2-4% of the cases. A variety of clinical features are found in trisomy 21 due to multi-system involvement but the hallmark is hypotonia, which is present in almost all the cases of trisomy 21. Different types of leukemias are also found in association with down’s syndrome, but they are not the hallmark. Atlantoaxial subluxation is secondary to hypotonia, which induces joint and ligament laxity. Other clinical findings are hypothyroidism, Alzheimer’s disease, Hirschsprung’s disease, and pulmonary hypertension.

The clinical presentation of lichen planus has several variations, as follows:- Hypertrophic lichen planus- Atrophic lichen planus- Erosive/ulcerative lichen planus- Follicular lichen planus (lichen planopilaris)- Annular lichen planus- Linear lichen planus- Vesicular and bullous lichen planus- Actinic lichen planus- Lichen planus pigmentosus- Lichen planus pemphigoides

Based on the clinical scenario, the most probable diagnosis in this patient is Kallmann’s syndrome.Kallmann’s syndrome is due to isolated gonadotrophin-releasing hormone (GnRH) deficiency. It is often inherited in an X-linked recessive manner. Other options:- While Klinefelter’s syndrome is also associated with hypogonadism, the other clinical features of Klinefelter’s are not seen. – Cryptorchidism is ruled out by the presence of testes in the scrotum. – The presentation of the child is not suggestive of mumps orchitis or hyperprolactinaemia.

The clinical scenario provided is highly suggestive of third-degree burns (or full-thickness burns) that may have invaded the deeper levels up to dermis, evident from the insensate nature of the lesion.Degrees of Burns:- First degree burns are superficial second-degree burns.- Second-degree burns are just deeper than that of first-degree burns but vary enormously in other properties.- Third-degree burns are full-thickness burns which are leathery in consistency, and insensate. These burns do not heal on their own. The sensory neurons present in the skin at the deeper levels are destroyed completely and hence provide a paradoxical lack of pain.- Fourth-degree burns involving the subcutaneous tissues, tendons, and bones are very difficult to manage.Assessment of the extent of the burns for the treatment employs specialized charts, such as Lund and Browder charts and Wallace rule of nines.The Lund and Browder chart is, however, considered the most accurate.Wallace’s Rule of Nines can be used for children >16 years: – Head + neck = 9%- Each arm = 9%- Each anterior part of leg = 9%- Each posterior part of leg = 9%- Anterior chest = 9%- Posterior chest = 9%- Anterior abdomen = 9%- Posterior abdomen = 9%

Beckwith-Wiedemann Syndrome (BWS) was first characterized by Patients having abdominal wall defects, macrosomia, macroglossia, and enlarged adrenal glands. Since then, the clinical presentation has expanded to recognize hemihypertrophy/lateralized overgrowth, hyperinsulinism, omphalocele, and organomegaly as classic features of BWS.About 50% of children with BWS have hypoglycaemia and therefore patients with diagnosed BWS should be evaluated for hypoglycaemia. Hypoglycaemia in most BWS new-borns generally resolves within the first few days of life. However, in about 5% of patients that have hyperinsulinism, the severe prolonged hypoglycaemia requires escalated therapy ranging for medication (diazoxide) to partial pancreatectomy.