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.

The Five P’s: pain, pulselessness, paraesthesia, paralysis, and pallor, are the most common symptoms of compartment syndrome. However, late signs of the condition include the absence of distal pulses.

Ideally, the test is done in the first 4 to 5 weeks, but it can be done at up to 3 months of age.The identification of all new-borns with hearing loss before age 6 months has now become an attainable realistic goal. In the past, parents and paediatricians often did not suspect a hearing loss until the age of 2-3 years, after important speech and language milestones have not been met. By the time these milestones are missed, the hearing-impaired child has already experienced irreversible delays in speech and language development.

Infective endocarditis occurs when microorganisms enter the bloodstream and infect damaged endocardium or endothelial tissue. It most commonly involves the heart valves (either native or prosthetic), but it may also occur at the site of a septal defect, on the chordae tendineae, or on the mural endocardium. The prototypic lesion is at the site of the infection| the vegetation is a mass of platelets, fibrin, microcolonies of microorganisms, and scant inflammatory cells. Endocarditis is classified as acute or subacute, which applies to the features and the progression of infection until diagnosis.The oral cavity, the skin, and the upper respiratory tract are the primary portals for Streptococcus viridans| Staphylococcus species| and Haemophilus aphrophilus, Aggregatibacter (formerly Actinobacillus) actinomycetemcomitans, Cardiobacterium hominis, Eikenella corrodens, and Kingella kingae (HACEK) organisms. Streptococcal and staphylococcal organisms are responsible for more than 80% of cases of bacterial IE.Streptococcus viridans accounts for approximately 50-60% of cases of subacute disease.While S aureus infection is the most common cause of IE, including Prosthetic valve endocarditis, acute IE, and IV Drug Abusers IE

The most probable diagnosis in this patient is Noonan syndrome.Noonan syndrome is an autosomal dominant condition characterised by short stature, heart defects (mainly pulmonary stenosis) and learning difficulties. An affected foetus can present with a significant increase in the nuchal thickness or a cystic hygroma of the neck. The condition is variable, and an affected parent is often only diagnosed after the diagnosis in the child.

To prevent mother to child transmission in the case of an HIV infected mother, guidelines have been put in place in the that guide practices. During pregnancy the risk of intrauterine transmission is quite low, as is the risk of transmission during vaginal delivery. As a result the number of women that choose to have caesarean sections have fallen, with vaginal births increasing by 40%. One factor that can however increase the risk of mother to child HIV transmission is concurrent Hepatitis C infection which double the risk of vertical transmission.

Due to malaria’s incubation period being between 7 and 30 days, malaria prophylaxis cannot provide a patient with confirmed protection. Prophylaxis treatment also often fails. The symptoms such as neck stiffness, fever, and vomiting are also consistent with the cerebral malaria diagnosis.

Coarctation of the aorta may be defined as a constricted aortic segment that comprises localized medial thickening, with some infolding of the medial and superimposed neointimal tissue.The presence of associated defects and aortic arch anomalies, the extent of patency of the ductus arteriosus, the rapidity of the process of closure of the ductus arteriosus, and the level of pulmonary vascular resistance determine the timing of clinical presentation and the severity of symptoms. Young patients may present in the first few weeks of life with poor feeding, tachypnoea, and lethargy and progress to overt CHF and shock. These patients may have appeared well before hospital discharge, and deterioration coincides with closure of the patent ductus arteriosus. Presentation may be abrupt and acute with ductal closure.Neonates may be found to have tachypnoea, tachycardia, and increased work of breathing and may even be moribund with shock. Keys to the diagnosis include blood pressure (BP) discrepancies between the upper and lower extremities and reduced or absent lower extremity pulses to palpation. However, when the infant is in severe heart failure, all pulses are diminished.The murmur associated with coarctation of the aorta may be nonspecific yet is usually a systolic murmur in the left infraclavicular area and under the left scapula.

Recommended regimens3 NRTI (e.g., zidovudine, lamivudine, abacavir) OR2 NRTI (e.g., lamivudine + abacavir) AND1 NNRTI (e.g., efavirenz) OR1 PI (e.g., lopinavir) OR1 INI (e.g., raltegravir)

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.

A complete course of DPT should be given.

At 7 months, children are expected to sit briefly leaning forward on their hands, reach and grasp objects, transfer objects from hand to hand, and babble. Children are usually expected to wave goodbye or grasp objects with their fingers or thumb at around 10 months and older.

With children nosebleeds often occur after nose picking and are benign in nature. For active bleeding, pressing of soft parts of the nose is required to stop the bleeding before doing anything else.

Macrosomia can be defined as either a birth weight greater than 4kg or birth weight greater than 90% for the gestational age. Risk factors for macrosomia include maternal diabetes, excessive gestational weight gain, pre-pregnancy obesity, male gender, ethnicity, and advanced gestational age. Genetic conditions associated with macrosomia are Bardet-Biedl syndrome, Perlman syndrome, Beckwith-Wiedemann syndrome, and Prader-Willi syndrome. Silver-Russell syndrome is associated with intrauterine growth retardation and post-natal failure to thrive.

A height that is above the 97th percentile for age and sex is described as a tall stature. The most common cause of tall stature is constitutional or familial, followed by nutritional causes. Hormonal causes of tall stature include hyperthyroidism, growth hormone excess, and precocious puberty. Some important chromosomal and syndromic causes of tall stature are Klinefelter’s syndrome, homocystinuria, Marfan’s syndrome, Sotos syndrome, Beckwith-Weidman syndrome, and Weaver syndrome. Laurence-Moon syndrome is an autosomal recessive disorder characterized by short stature, retinitis pigmentosa, and spastic paraplegia.

Proteinuria refers to an increased amount of protein excretion in urine, which should be greater than 100mg/m2 per day on a single spot urine collection. The limit is even more relaxed for infants and neonates. Proteinuria is a prominent manifestation of cystinosis, acute tubular necrosis, Fanconi syndrome, and celiac disease. Landau-Kleffner syndrome is a rare childhood convulsive disorder, associated with acquired aphasia and auditory verbal agnosia.

Erythema multiforme is a skin rash characterized by the eruption of macules, papules, and target-like lesions. 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, mostly appearing on the distal extremities along with palmoplantar involvement. The disease affects the mucous membrane and orbits as well. The most common infectious cause is herpes simplex virus 1 and 2 to a lesser extent. Inflammation of the adipocytes underlying the skin is referred to as erythema nodosum, and it is not a feature of EM.

External oblique forms the outermost muscle of the three muscles comprising the anterolateral aspect of the abdominal wall. Its aponeurosis comprises the anterior wall of the inguinal canal.

Bulimia nervosa is a condition in which a person is involved in binge eating and then purging. This patient has swollen parotid glands. The glands swell in order to increase saliva production so that the saliva lost in the vomiting is compensated. This patient also has thickened calluses on the back of her hand. This is known as Russell’s sign. This occurs because of putting fingers in the mouth again and again to induce the gag reflex and vomit. The knuckles get inflamed in the process after coming in contact with the teeth multiple times.

Haemophilia A has an X-linked recessive pattern of inheritance, meaning that is a 50% chance of having a son with haemophilia and 50% chance of the daughters being carriers of the haemophilia gene.

The most appropriate step in this patient would be to admit the patient for enteral rehydration via a nasogastric tube.Enteral rehydration:Oral rehydration is the most preferred way of rehydrating children. If a child is not tolerating small-frequent-feeds, then nasogastric rehydration is an underused next best step. The fluid can be run through a continuous pump so that it is better tolerated. Note:Intravenous fluids are effective but can have profound effects on the serum electrolyte balance if not monitored closely. Most children will tolerate fluids in an emergency department, but failure to take fluids orally is not an indication for intravenous therapy.

While the cause for Bell’s palsy is still under debate, it is observed that Bell’s palsy is often preceded by a viral infection. Bell’s Palsy:Bell’s palsy (idiopathic facial palsy) is an acute unilateral lower motor neurone palsy. It typically occurs two weeks after viral infection such as Epstein–Barr, herpes simplex, herpes zoster or mumps. A careful assessment may suggest an alternative aetiology for the acute onset of weakness, e.g. acute otitis media, Lyme disease, hypertension. Causes:In childhood, Bell’s palsy is probably a post-infectious (i.e. immune-mediated) phenomenon, while in adults, there is increasing evidence that the majority of cases follow reactivation of previous HSV infection. Management:The prognosis is generally good in childhood with full recovery in the majority. However, permanent weakness is observed in around 5%. Steroids and acyclovir may have some benefit in adults with recent onset of weakness, but the evidence of the treatment benefit is much less convincing in childhood. Exposure keratitis is an important complication and children should be managed with eye drops and taping of the eyelid at night until recovery is complete.

Scabies infection in neonates typically manifests as nodular eruptions involving the face, neck, scalp, palms, and soles in contrast to the predominant involvement of the hands, wrists, elbows, and ankles in adults. Differential diagnoses for the nodular eruption in neonates are broad, and scabies often is misdiagnosed as Langerhans cell histiocytosis, urticaria pigmentosa, or another pruritic, bullous, or lymphoproliferative dermatosis. Histopathology of the reactive nodules usually is not diagnostic, because scabetic organisms are often unidentified and histologic findings are nonspecific. Furthermore, because of the atypical presentation, scabies in children is often missed until persons in close contact with the child present with similar symptoms. Thus, a thorough history and close follow-up are crucial to avoid misdiagnosis and unnecessary aggressive treatment. Moreover, synchronized treatment of patients and their close contacts is needed to ensure the success of therapy, considering that relapse is 2-3 times more frequent in children and infants

Embryologically the testes are retroperitoneal structures in the posterior abdominal wall, attached to the anterolateral abdominal wall by the gubernaculum. The gubernaculum ‘pulls’ the testes through the deep inguinal ring, inguinal canal and superficial inguinal ring and over the pelvic brim. The gubernaculum is preceded by the processus vaginalis that is derived from the peritoneum anterior to the testes. The processus vaginalis pushes the muscle and fascial layers. These eventually make up the canal and the spermatic cord, into the scrotum. The gubernaculum persists as the scrotal ligament while part of the processus vaginalis remains as a bursa-like sac i.e. the tunica vaginalis testes. The testes therefore could be caught in any one of these places along its path of descending. The testes are never in the perineum.

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.

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.

Colonic Polyposis and neoplasia are often seen in Cowden Syndrome which is a hamartomatous polyposis syndrome. Patients with Cowden syndrome have an increased risk for colorectal cancer.

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.

Polyuria is defined as a total increase in the urine output or > 2L/m2 of daily urine produced in children. Polyuria can be a symptom of a vast number of medical conditions. The commonest and most important disease having polyuria as the main symptom is diabetes mellitus. Nephrogenic and central diabetes insipidus also results in polyuria along with polydipsia. Other conditions that lead to an increase in the urine output are renal failure, acute tubular necrosis, and exposure to high altitude. Hyperkalaemia does not result in polyuria| rather hypokalaemia can be an associated finding with polyuria in the case of diuretic abuse.

Croup is the most common aetiology for hoarseness, cough, and onset of acute stridor in febrile children. Symptoms of coryza may be absent, mild, or marked. The vast majority of children with croup recover without consequences or sequelae.

The child has nephrotic syndrome which is most commonly caused by minimal change nephropathy in this age group. The condition presents with fusion of foot processes of the glomerular epithelial cells under the microscope.

As this boy was dry for a considerable period, there is a high chance of a secondary cause for the bed wetting, such as bladder infections, constipation, diabetes, psychological stress and hormonal problems etc. These have to be excluded.

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.

Tetralogy of Fallot usually is diagnosed after a baby is born, often after the infant has an episode of turning blue during crying or feeding (a tet spell). A loud heart murmur is usually present.An atrial septal defect is present at birth, but many babies do not have any signs or symptoms.Coarctation of the aorta is usually diagnosed after the baby is born. How early in life the defect is diagnosed usually depends on how mild or severe the symptoms are. New-born screening using pulse oximetry during the first few days of life may or may not detect coarctation of the aorta.In babies with a more serious condition, early signs usually include:pale skinirritabilityheavy sweatingdifficulty breathingBabies born with pulmonary atresia will show symptoms at birth or very soon afterwards. They may be cyanotic. However, it is not uncommon for a heart murmur to be absent right at birth.

Cystic fibrosis is a life-threatening disorder that causes the build up of thick mucus in the lungs, digestive tract, and other areas of the body. It is a hereditary autosomal-recessive disease caused by mutations of the CFTR gene. Cystic fibrosis eventually results in bronchiectasis which is defined as a permanent dilatation and obstruction of bronchi or bronchioles.

Answer: Congenital diaphragmatic herniaCongenital diaphragmatic hernia (CDH) occurs when the diaphragm muscle — the muscle that separates the chest from the abdomen — fails to close during prenatal development, and the contents from the abdomen (stomach, intestines and/or liver) migrate into the chest through this hole.Examination in infants with congenital diaphragmatic hernias include the following findings:Scaphoid abdomenBarrel-shaped chestRespiratory distress (retractions, cyanosis, grunting respirations)In left-sided posterolateral hernia: Poor air entry on the left, with a shift of cardiac sounds over the right chest| in patients with severe defects, signs of pneumothorax (poor air entry, poor perfusion) may also be foundAssociated anomalies: Dysmorphisms such as craniofacial abnormalities, extremity abnormalities, or spinal dysraphism may suggest syndromic congenital diaphragmatic herniaIleal atresia is a congenital abnormality where there is significant stenosis or complete absence of a portion of the ileum. There is an increased incidence in those with chromosomal abnormalities. Ileal atresia results from a vascular accident in utero that leads to decreased intestinal perfusion and subsequent ischemia a segment of bowel. This leads to narrowing, or in the most severe cases, complete obliteration of the intestinal lumen. In the postnatal period, an abdominal radiograph will show air in the dilated loops of proximal bowel. An ileal atresia is often discovered prenatally at a routine prenatal ultrasound scan or following the development of polyhydramnios. On ultrasound, there is frequently a proximal dilated intestinal segment.Meconium Ileus (MI) is a condition where the content of the baby’s bowel (meconium) is extremely sticky and causes the bowel to be blocked at birth. In most cases the bowel itself is complete and intact but it is just the inside that is blocked.In some cases there has been a twist of the bowel before birth, which has caused the bowel to be blind ending (an atresia). Most babies with meconium ileus (90%) have Cystic Fibrosis (CF) and it is this that has caused the sticky meconium. Meconium ileus is a rare condition affecting only 1 in 25,000 babies. There is normally a delay in your baby passing meconium (black sticky stool normally passed within 24 hours of delivery) and your baby may also be reluctant to feed and may vomit a green fluid called bile which would normally pass through the bowel.Your baby may be uncomfortable because of constipation and trapped air in the bowel and the abdomen (tummy) will become distended. Some babies present at delivery with a distended abdomen and may be unwell due to infection around the bowel.Pyloric stenosis is a problem that affects babies between birth and 6 months of age and causes forceful vomiting that can lead to dehydration. It is the second most common problem requiring surgery in new-borns. The lower portion of the stomach that connects to the small intestine is known as the pylorus. In pyloric stenosis, the muscles in this part of the stomach enlarge, narrowing the opening of the pylorus and eventually preventing food from moving from the stomach to the intestine.

6 month old milestones:Social and Emotional:Knows familiar faces and begins to know if someone is a stranger Likes to play with others, especially parents Responds to other people’s emotions and often seems happy Likes to look at self in a mirror Language/Communication:Responds to sounds by making sounds Strings vowels together when babbling (“ah,” “eh,” “oh”) and likes taking turns with parent while making sounds Responds to own name Makes sounds to show joy and displeasure Begins to say consonant sounds (jabbering with “m,” “b”) Cognitive (learning, thinking, problem-solving):Looks around at things nearby Brings things to mouth Shows curiosity about things and tries to get things that are out of reach Begins to pass things from one hand to the other Movement/Physical Development:Rolls over in both directions (front to back, back to front) Begins to sit without support When standing, supports weight on legs and might bounce Rocks back and forth, sometimes crawling backwards before moving forward

Identify babies as being more likely to develop significant hyperbilirubinemia if they have any of the following factors:- gestational age under 38 weeks- a previous sibling with neonatal jaundice requiring phototherapy- mother’s intention to breastfeed exclusively- visible jaundice in the first 24 hours of life.

The boy needs re-hydration and hydro-electrolytic re-balancing due to fluid losses from the gastroenteritis and subsequent dehydration.

In the prenatal heart, right-to-left atrial shunting of blood through the foramen ovale is essential for proper circulation. After birth, as the pulmonary circulation is established, the foramen ovale functionally closes as a result of changes in the relative pressure of the two atrial chambers, ensuring the separation of oxygen-depleted venous blood in the right atrium from the oxygenated blood entering the left atrium.

The anti-B antibodies in a patient with blood group A belong to the IgM class of immunoglobulins.Note:IgM is the largest antibody formed of 5 antibodies attached together. This functions to agglutinate or clump antigens. The associated anti-A and anti-B antibodies are usually IgM produced in the first years of life by sensitisation to environmental substances such as food, bacteria, and viruses.Other options:- IgG is the most common antibody. It is a single antibody complex.- IgD is found on the surface of B-lymphocytes.- IgE is bound to tissue cells, especially mast cells and eosinophils.

Among the given options, lipoatrophy takes time to develop as it is a long-term complication of insulin therapy. Since it has only been two weeks since the initiation of insulin therapy, it is unlikely to occur so early.The risk of lipoatrophy is reduced with newer insulins and also can be avoided by site rotation.However, anaphylaxis, allergic reactions, infection and abscesses at the site of an insulin pump can occur in this patient as a complication of insulin therapy.

NICE guidelines suggest that when a child’s single risk factor is 2 vomits, the child should be observed for 4 hours from the time of the injury, instead of having a CT.

Persistent pulmonary hypertension of the new-born is secondary to the failure of normal circulatory transition at birth, leading to an abnormally high pulmonary vascular resistance. This elevated resistance causes right-to-left shunting of blood and hypoxemia. It can be caused by parenchymal lung diseases (meconium aspiration syndrome, pneumonia or ARDS), lung hypoplasia (like occurring in oligohydramnios or diaphragmatic hernia), or it can be idiopathic. Other possible causes include maternal indomethacin use, group B streptococcal septicaemia, and high-pressure ventilation. Duct dependent congenital heart disease does not lead to persistent pulmonary hypertension.

Among the given options a 2-year-old child with normal developmental milestones will be able to pull and push large wheeled toys and squat to play with toys on the floor.Other options:- Bouncing and catching a ball is learnt by the age of 5.- The ability to pedal a tricycle should be attained by 3 years of age, not 2.- A child can walk on tip-toe by 2.5 and run on tip-toe by (option D) 3 years of age, not 2.- The ability to momentarily maintain balance using one leg (option E) should be attained by 3 years.

Chickenpox is caused by the varicella-zoster virus. The clinical signs of infection are fever and a maculopapular rash – this is a unique rash with both flat and raised lesions on the skin.

The T wave represents ventricular repolarization. Other options:- P wave:Depolarization that spreads from the SA node throughout the atria. The wave lasts 0.08 to 0.1 seconds (80-100 ms).The isoelectric period after the P wave represents the time in which the impulse is travelling within the AV node.- P-R interval:Time from the onset of the P wave to the beginning of the QRS complex. The wave ranges from 0.12 to 0.20 seconds in duration.Represents the time between the onset of atrial depolarization and the onset of ventricular depolarization- QRS complex:It represents ventricular depolarization. The duration of the QRS complex is normally 0.06 to 0.1 seconds.- ST-segment:The isoelectric period following the QRS. It represents the period in which the entire ventricle is depolarized and roughly corresponds to the plateau phase of the ventricular action potential- U wave: It is a small positive wave which may follow the T wave. It represents the last remnants of ventricular repolarization.- Q-T intervalIt represents the time for both ventricular depolarization and repolarization to occur, and therefore roughly estimates the duration of an average ventricular action potential.The interval ranges from 0.2 to 0.4 seconds depending upon heart rate.At high heart rates, ventricular action potentials shorten in duration, which decreases the Q-T interval. Therefore the Q-T interval is expressed as a corrected Q-T (QTc) by taking the Q-T interval and dividing it by the square root of the R-R interval (interval between ventricular depolarizations). This allows an assessment of the Q-T interval that is independent of heart rate.The normal corrected Q-Tc interval is less than 0.44 seconds.

Insertion sites and sensor sites should be rotated each time the infusion set or glucose sensor is changed. This keeps the tissue healthy and allows previous sites to completely heal before reusing them. Change infusion set every 2 to 3 days to help prevent infection.

Syphilis is an infectious venereal disease caused by the spirochete Treponema pallidum. Syphilis is transmissible by sexual contact with infectious lesions, from mother to foetus in utero, via blood product transfusion, and occasionally through breaks in the skin that come into contact with infectious lesions. If untreated, it progresses through 4 stages: primary, secondary, latent, and tertiary.

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.

Tension headache presents with pain that is pressing or tightening in quality, mild or moderate, and located bilaterally. It usually does not get worse with activities and may last from minutes to weeks.

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 cells in the testes that secrete testosterone are the Leydig cells.Other cells in testes include:- Spermatogonia: These are undifferentiated male germ cells which undergo spermatogenesis in the seminiferous tubules of the testes.- Sertoli cells: They are a part of the seminiferous tubule of the testes, cells are activated by FSH and nourish developing sperm cells.- Myoid: They are squamous contractile cells which generate peristaltic waves, they surround the basement membrane of testes.- Fibroblasts: Cells which synthesise collagen and the extracellular matrix.

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.

Although some individuals with Anorexia Nervosa exhibit no laboratory abnormalities, the semistarvation characteristic of this disorder can affect most major organ systems and produce a variety of disturbances. The induced vomiting and abuse of laxatives, diuretics, and enemas can also cause a number of disturbances leading to abnormal laboratory findings.Haematology: Leukopenia and mild anaemia are common| thrombocytopenia occurs rarely.Chemistry: Dehydration may be reflected by an elevated blood urea nitrogen (BUN). Hypercholesterolemia is common. Liver function tests may be elevated.Hypomagnesemia, hypozincaemia, hypophosphatemia, and hyperamylasaemia are occasionally found. Induced vomiting may lead to metabolic alkalosis (elevated serum bicarbonate), hypochloraemia, and hypokalaemia, and laxative abuse may cause a metabolic acidosis. Serum thyroxine levels are usually in the low-normal range| triiodothyronine levels are decreased. Hyperadrenocorticism and abnormal responsiveness to a variety of neuroendocrine challenges are common.In females, low serum oestrogen levels are present, whereas males have low levels of serum testosterone. There is a regression of the hypothalamic-pituitary-gonadal axis in both sexes in that the 24-hour pattern of secretion of luteinizing hormone (LH) resembles that normally seen in prepubertal or pubertal individuals.

Cystic fibrosis has an autosomal recessive pattern of inheritance, meaning that a person might be a carrier of the disease without developing it. If the unaffected partner is a carrier, then there is a 50% chance of inheritance and a 50% chance of having a child who is a carrier. However, if the partner is not a carrier, the offspring will not develop the disease but the possibility of being a carrier raises up to 100%.

Mild deficiencies of 21-hydroxylase or 3-beta-hydroxysteroid dehydrogenase activity may present in adolescence or adulthood with oligomenorrhea, hirsutism, and/or infertility. This is termed nonclassical adrenal hyperplasia.Late-onset or nonclassical congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence ranges from 1 in 30 to 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen excess. Treatment needs to be directed toward the symptoms. Goals of treatment include normal linear growth velocity, a normal rate of skeletal maturation, ‘on-time’ puberty, regular menstrual cycles, prevention of or limited progression of hirsutism and acne, and fertility. Treatment needs to be individualized and should not be initiated merely to decrease abnormally elevated hormone concentrations.Normal Ultrasound rules out Turner’s syndrome.

This patient has pulmonary renal syndrome which is most commonly due to an ANCA positive vasculitis. The history of recurrent epistaxis makes Wegener’s granulomatosis the most probable diagnosis. Wegener’s granulomatosis, microscopic polyangiitis, and idiopathic pauci-immune necrotizing crescentic glomerulonephritis (NCGN) are strongly associated with antineutrophil cytoplasmic autoantibodies (ANCAs) directed against either proteinase 3 (anti-PR3) or myeloperoxidase (anti-MPO).

Urine culture and sensitivity is used to diagnose a urinary tract infection (UTI). A mid-stream clean catch urine sample is the most common type of sample collected. It is important to follow the clean catch process to have accurate results from an uncontaminated sample. Urine cultures can also check for infections of the bladder or kidney.

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.

Cow’s milk differs in composition to human breast milk. The sodium content of cows milk is too high, which can easily overwhelm a baby’s developing kidneys and lead to hypernatremia and dehydration. In addition to its iron content being too low, cows milk can cause further increase iron deficiency anaemia by irritating the baby’s intestinal lumen and causing blood loss per rectum. After 12 months a baby’s gastrointestinal tract and organs are able to tolerate cows milk.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency in humans.It has a high prevalence in persons of African, Asian, and Mediterranean descent. It is inherited as an X-linked recessive disorder.G6PD deficiency is polymorphic, with more than 300 variantsG6PD deficiency can present as neonatal hyperbilirubinemia. Besides, persons with this disorder can experience episodes of brisk haemolysis after ingesting fava beans or being exposed to certain infections or drugs. Less commonly, they may have chronic haemolysis. However, many individuals with G6PD deficiency are asymptomatic.Most individuals with G6PD deficiency do not need treatment. However, they should be taught to avoid drugs and chemicals that can cause oxidant stress. Infants with prolonged neonatal jaundice as a result of G6PD deficiency should receive phototherapy with a bili light.

Pupils are dilated in patients with amitriptyline overdose.Tricyclic antidepressants have a narrow therapeutic index, and thus, small doses can be fatal in children. Deaths from tricyclics are more common than other antidepressants. Bimodal incidence with toddlers (accidental) and teenagers (deliberate) most commonly affected.Symptoms: They occur within 6 hours of ingestion.- Nausea, vomiting, and headache- Elevated body temperature- Agitation, sleepiness, confusion, coma- Dry mouth, blurred vision, urinary retention (anticholinergic)- Dilated pupils- Seizures- Hypotension, tachycardia, conduction disorders, and cardiac arrest- Respiratory depressionManagement:Treatment focuses on supportive care. This includes airway protection, ventilation and oxygenation, intravenous fluids, and cardiac monitoring.Other measures include:- Activated charcoal within 2 hours- Hypotension is treated with IV fluids and adrenaline- Cardiac monitoring- Sodium bicarbonate in acidosis or if there are wide QRS complex (> 100 ms)- Convulsions may require diazepam or lorazepam.

Congenital LQTS arises from mutations in genes that code for ion channels within myocytes.These mutations all cause ventricular action potentials to be prolonged, resulting in a lengthened QT interval on ECG. The congenital long-QT syndrome (LQTS) is a life-threatening cardiac arrhythmia syndrome that represents a leading cause of sudden death in the young. LQTS is typically characterized by a prolongation of the QT interval on the ECG and by the occurrence of syncope or cardiac arrest, mainly precipitated by emotional or physical stress.LQTS type 1Most common type of congenital LQTSDefect: loss of function mutation on the KCNQ1 gene located on chromosome 11p → defective slow delayed rectifier voltage-gated potassium channelSubtypesJervell and Lange-Nielsen syndrome Associated with congenital deafnessAutosomal recessiveAssociated with ventricular tachyarrhythmiasRomano-Ward syndrome No associated deafnessAutosomal dominantAssociated with ventricular tachyarrhythmias

The right testicular vein is a tributary of the inferior vena cava, while the left testicular vein drains into the left renal vein.Note:The testicular venous drainage begins in the septa and these veins together with those of the tunica vasculosa converge on the posterior border of the testis as the pampiniform plexus. The pampiniform plexus, in turn, drains to the testicular vein.

Language/Communication milestones of 2 years old:Points to things or pictures when they are named Knows names of familiar people and body parts Says sentences with 2 to 4 words Follows simple instructions Repeats words overheard in conversation Points to things in a book

The Chi squared test is used to find the relationship between two variables, determining whether they are not independent of each other. This test of statistical significance allows you to determine the degree of confidence with which you can accept or reject the null hypothesis. The student t test compares the significant differences in data means, while rank correlation, linear regression and the correlation coefficient all help to measure the linear relationship between variables.

Polycythaemia is a condition in which there is an increased red cell mass and increasing blood viscosity, which decreases its ability to flow. It is not associated with food allergies, but is fundamentally caused by either an overproduction of red blood cells, or a reduction in the volume of plasma. Abdominal pain, constipation, loose and frequent stools, and pallor are all non IGE mediated symptoms of food allergy according to NICE guidelines in the UK.

It is recommended that a woman wait one month after stopping isotretinoin before trying to become pregnant. Usually, isotretinoin is no longer found in a woman’s blood 4-5 days after the last dose and most of its by-products should be gone within 10 days after the last dose.

Bowel sounds in the chest and curved NG tube are suggestive of a diaphragm rupture, which has caused herniation of bowel into the thoracic cavity through the defect in the diaphragm.