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.

Cranial nerves I, II, and VIII are considered purely afferent nerves since they conduct sensory information from the olfactory region, the retina of the eye, and the inner ear structures, respectively.Cranial nerves III, IV, VI, XI, and XII are considered purely efferent due to their motor output to the orbit, the neck, and the tongue.Cranial nerves V, VII, IX, and X are considered mixed cranial nerves due to the presence of afferent and efferent fibres with both sensory and motor components.

Infectious mastitis and breast abscesses are predominantly caused by bacteria that colonize the skin. S. aureus is the most common causative agent, followed by coagulase-negative Staphylococci. The majority of S. aureus isolated are now methicillin-resistant S. aureus (MRSA)Some breast infections (and up to 40% of breast abscesses) may be polymicrobial, with the isolation of aerobes (Staphylococcus, Streptococcus, Enterobacteriaceae, Corynebacterium, Escherichia coli, and Pseudomonas) as well as anaerobes (Peptostreptococcus, Propionibacterium, Bacteroides, Lactobacillus, Eubacterium, Clostridium, Fusobacterium, and Veillonella). A study of primary and recurrent breast abscesses showed that smokers were more likely to have anaerobes recovered (isolated in 15% of patients).Unusual breast infections may be the initial presentation of HIV infection. Typhoid is a well-recognized cause of breast abscesses in countries where this disease is prevalent.

The most probable diagnosis in this patient would be febrile seizure plus syndrome.Rationale:All of the answers are possible epileptic conditions that this 8-year-old may have. However, the background history of febrile seizure together with a family history of febrile seizures, in a boy who is growing well, with no developmental delay, make febrile seizures plus the most appropriate differential diagnosis for this patient.Other options:- Epilepsy with myoclonic absences are often challenging to treat and may continue into adulthood. There is a male predominance (70%). At presentation, approximately half of cases have a learning disability. An absence seizure is common in this diagnosis and usually occurs daily.- Juvenile absence epilepsy may present with initial generalised tonic-clonic epilepsy followed by absences after that. They are also seen with a background of febrile seizure, and the peak age of presentation is usually at eight years old. Given the current history and lack of absences, this diagnosis is least likely.- Juvenile myoclonic epilepsy usually presents with a myoclonic seizure, although the presentation maybe with a generalised tonic-clonic seizure. It occurs more frequently. Background history of febrile fit may be present in 5-10% of the cases.- Temporal lobe epilepsy is usually associated with aura, and that is not seen in this patient.

Diagnostic criteria of PCOsAccording to the American Association of Clinical Endocrinologists, at least two of three of the criteria below are required for diagnosis of PCOS after excluding other causes of irregular bleeding and elevated androgen levels.Hyperandrogenism (clinical or laboratory)Oligo- and/or anovulationPolycystic ovaries on ultrasoundDiagnosis of PCOS is possible without the presence of ovarian cysts.Rule out any other causes of hyperandrogenism and anovulation.Blood hormone levels↑ Testosterone (both total and free) or free androgen index↑ LH (LH:FSH ratio > 2:1)Oestrogen is normal or slightly elevated A clinical picture of hyperandrogenism overrules any normal hormone levels and can fulfil a diagnostic criterium of PCOS.

The general target of weight gain in the neonatal intensive care unit is to replicate the intrauterine growth in the third trimester, which equates to the daily weight gain of nearly 15 g/kg/day with infants receiving 120 kcal/kg/day

Neonatal hyperbilirubinemia is a common clinical condition and can be categorized as conjugated and unconjugated hyperbilirubinemia. Conjugated hyperbilirubinemia results from obstructive or hepatocellular causes mainly. The causes of conjugated hyperbilirubinemia include inborn errors of metabolism like galactosemia and aminoaciduria, obstruction from choledochal cysts, and biliary atresia. Long term TPN also leads to conjugated hyperbilirubinemia. Spherocytosis is a hereditary condition belonging to the group of haemolytic anaemias, resulting from plasma membrane protein deficiency. This defect of the RBC plasma membrane decreases their life span, making them osmotically fragile and prone to haemolysis. This leads to an increase in the unconjugated bilirubin levels, with a risk of developing kernicterus.

Auscultatory findings of VSD vary with the size of the defect. Small VSDs typically produce murmurs ranging from a grade 1 to 2/6 high-pitched, short systolic murmur (due to tiny defects that actually close during late systole) to a grade 3 to 4/6 holosystolic murmur (with or without thrill) at the lower left sternal border| this murmur is usually audible within the first few days of life (see table Heart Murmur Intensity). The precordium is not hyperactive, and the 2nd heart sound (S2) is normally split and has normal intensity.Moderate to large VSDs produce a holosystolic murmur that is present by age 2 to 3 wk| S2 is usually narrowly split with an accentuated pulmonary component. An apical diastolic rumble (due to increased flow through the mitral valve) and findings of heart failure (e.g., tachypnoea, dyspnoea with feeding, failure to thrive, gallop, crackles, hepatomegaly) may be present. In moderate, high-flow VSDs, the murmur is often very loud and accompanied by a thrill (grade 4 or 5 murmur). With large defects allowing equalization of left ventricular and right ventricular pressures, the systolic murmur is often attenuated.

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic academia. The condition gets its name from the distinctive sweet odour of affected infants’ urine, particularly prior to diagnosis, and during times of acute illness. MSUD, also known as branched-chain ketoaciduria, is an aminoacidopathy due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine.

Cytomegalovirus (CMV) is the most frequent cause of congenital infection worldwide, with an estimated incidence in developed countries of 0.6–0.7% of all live births.The clinical spectrum of congenital CMV infection varies widely, from the complete absence of signs of infection (asymptomatic infection) to potentially life-threatening disseminated disease. At birth, 85–90% of infected infants are asymptomatic, and 10–15% present with clinical apparent infection (symptomatic disease).The presentation in this latter group is a continuum of disease expression whose more common findings are petechiae, jaundice, hepatomegaly, splenomegaly, microcephaly, and other neurologic signs.

Intussusception is one of the common causes of intestinal obstruction in children, resulting from the invagination or telescoping of one segment of the bowel into the other distal segment. It may induce bowel ischemia and necrosis, as well. It can occur as a complication of Meckel’s diverticulum. It usually occurs proximal to the ileocecal valve, and the most common presentation is ileocecal. Early signs and symptoms include cramping abdominal pain, nausea, vomiting, and pulling legs up to chest area. First line treatment includes resuscitation with IV fluids and nasogastric tube. It responds well to air-enema, which is also diagnostic.

The Glasgow Coma Scale, being inappropriate for use in children (especially below the age of 5) as they are unable to elicit the verbal response as per the adult GCS. Therefore, GCS for the paediatric age group was modified to Adelaide coma scale (ACS), which is stated as follows:Best Eye Response (as in adult scale):Spontaneous – 4To speech – 3To pain – 2No response – 1Best Verbal Response:Oriented – 5Words – 4Vocal sounds – 3Cries – 2No response – 1Best Motor Response (as in adult scale):Obeys commands – 5Localises pain – 4Flexion to pain – 3 Extension to pain – 2No response – 1 The described child scores:Eye response – 1| Verbal response – 3| Motor response – 4Thus, bringing the total ACS score to 8.

From the midgut derives most of the small intestine as well as some parts of the large intestine, including the appendix. The appendix is at the base of caecum, up to 10cm long and mainly comprised of lymphoid tissue (Hence mesenteric adenitis may mimic appendicitis).

PARACHUTE REFLEX: This reflex occurs in slightly older infants when the child is held upright and the baby’s body is rotated quickly to face forward (as in falling). The baby will extend his arms forward as if to break a fall, even though this reflex appears long before the baby walks.Newborn reflexes are:Rooting reflex:This reflex starts when the corner of the baby’s mouth is stroked or touched. The baby will turn his or her head and open his or her mouth to follow and root in the direction of the stroking. This helps the baby find the breast or bottle to start feeding. This reflex lasts about 4 months.Suck reflex:Moro reflex:The Moro reflex is often called a startle reflex. That’s because it usually occurs when a baby is startled by a loud sound or movement. In response to the sound, the baby throws back his or her head, extends out his or her arms and legs, cries, then pulls the arms and legs back in. This reflex lasts until the baby is about 2 months old.Tonic neck reflex:When a baby’s head is turned to one side, the arm on that side stretches out and the opposite arm bends up at the elbow. This is often called the fencing position. This reflex lasts until the baby is about 5 to 7 months old.Grasp reflex:Stroking the palm of a baby’s hand causes the baby to close his or her fingers in a grasp. The grasp reflex lasts until the baby is about 5 to 6 months old. A similar reflex in the toes lasts until 9 to 12 months.Stepping reflex:This reflex is also called the walking or dance reflex because a baby appears to take steps or dance when held upright with his or her feet touching a solid surface. This reflex lasts about 2 months.

Red blood cells (RBC) have a life span of 120 days in humans.Aging of RBC includes changes in many properties: decreased metabolic activity, morphological alterations, including decreased cell volume and changes in cell shape, and quantitative and qualitative modulations of the surface.

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.

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.

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years.

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.

Because the medical history included tonsillitis followed by haematuria and hypertension, there is a strong suspicion of a case of post-streptococcal glomerulonephritis (PSGN). Patients with PSGN usually have serological findings showing depressed serum haemolytic component CH50 and serum concentrations of C3. Sometimes depressed C4 levels are also apparent, but not always, therefore, the answer to this question is: depressed CH50 level.

Many of the symptoms favour blast cells: the patient’s young age| a reoccurring sore throat caused by neutropenia and abnormal lymphoblasts| pale conjunctiva due to reduced production of red blood cells (this is because the marrow has been occupied by blast cells). There are no risk factors present for aplastic anaemia, and congenital aplastic anaemia would present itself earlier in life. A bone marrow aspiration would be needed to confirm the diagnosis.

Breast milk jaundice is thought to be associated with one or more abnormalities in the maternal milk itself. Breast milk jaundice syndrome generally needs no therapy if serum bilirubin concentrations remain below 270 mmol/l in healthy full-term infants. When the serum bilirubin concentration is above 270 mmol/l and rising, temporary interruption of breastfeeding may be indicated.

Hyperkalaemia presents with high voltage (peaked) T waves on ECG. Other features on ECG include smaller p-waves and wider QRS complexes.

Haemophilia A and haemophilia B are inherited in an X-linked recessive pattern. The genes associated with these conditions are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition.

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.

Renal stones < 5mm generally pass spontaneously with adequate fluid intake. Stones 5mm-10mm with pain not resolving, require medical expulsive therapy with Nifedipine or Tamsulosin. For stones larger than 10mm, ESWL or Ureteroscopy is indicated. For stones as big as 2cm, percutaneous nephrolithotomy should be applied.

People with Gilbert syndrome have a build-up of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia). In affected individuals, bilirubin levels fluctuate and very rarely increase to levels that cause jaundice. Gilbert syndrome is usually recognized in adolescence. If people with this condition have episodes of hyperbilirubinemia, these episodes are generally mild and typically occur when the body is under stress, for instance because of dehydration, prolonged periods without food (fasting), illness, vigorous exercise, or menstruation. Some people with Gilbert syndrome also experience abdominal discomfort or tiredness. However, approximately 30 percent of people with Gilbert syndrome have no signs or symptoms of the condition and are discovered only when routine blood tests reveal elevated unconjugated bilirubin levels.

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 physical features and developmental delay are the key aspects in the given scenario. The child in question shows features of gross motor and social developmental delay and has physical features indicative of Prader-Willi syndrome (hypopigmentation, esotropia, disproportionately small hands and feet, loss of central muscle tone and undescended testes). Children with Prader-Willi syndrome can present with failure to thrive until ,12-18 months, at which point, hyperphagia and obesity become more prominent. Other options:- Although Klinefelter syndrome can present with delayed development, undescended/small testes and reduced muscle power, the presence of small hands/feet, hypopigmentation and failure to thrive are not characteristic features. – Marfan syndrome presents with different physical features (arachnodactyly, cardio-respiratory complications and skin changes, amongst others) than those associated with Prader-Willi syndrome. – DiGeorge can manifest with developmental delay, hypotonia and feeding difficulties. However, this clinical scenario does not report any of the typical facial features, hearing abnormalities or cardiac abnormalities that are typically caused by DiGeorge syndrome. – Russell-Silver syndrome can cause developmental abnormalities, poor muscle tone and power (poor head control and muscle function), feeding difficulties and poor growth during the post-natal period and infancy. However, characteristic facial (small, triangular face, blue sclerae) and skeletal abnormalities (limb asymmetry, finger abnormalities) are not present. Therefore, Prader-Willi syndrome is the most appropriate diagnosis for this patient.Note:Prader-Willi syndrome is an example of genetic imprinting where the phenotype depends on whether the deletion occurs on a gene inherited from the mother or father: In Prader-Willi syndrome, it is the paternal gene that is deleted from the long arm of chromosome 15, while in Angelman syndrome the maternal gene is deleted. Prader-Willi syndrome can occur due to the microdeletion of paternal 15q11-13 (70% of cases) maternal uniparental disomy of chromosome 15.

This child is experiencing delayed speech. By the age of 2, a child should be able to combine at least 2 words to make a very simple sentence.

Among the given options, Di-George syndrome is not associated with adrenal gland disorders.Di-George syndrome is 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 deletionOther options:- Addison’s disease is a result of adrenal hypofunction and may present with collapse secondary to a salt-losing crisis.- Congenital adrenal hyperplasia: CAH is caused by the deficiency of an enzyme (classically 21-hydroxylase deficiency) in the biosynthetic pathway in the adrenal cortex, leading to insufficient production of cortisol and aldosterone, and a build-up of 17-hydroxyprogesterone.- Cushing’s syndrome is a syndrome of cortisol excess. An adrenal tumour is a primary cause.- Pheochromocytoma is a catecholamine releasing tumour of the adrenal gland/s.

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.

McCune–Albright syndrome, characterised by polyostotic fibrous dysplasia, café au lait spots, sexual precocity, and hyperfunction of multiple endocrine glands, is the result of G-protein abnormality.

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.

According to NICE guidelines:Do not offer lithium to women who are planning a pregnancy or pregnant, unless antipsychotic medication has not been effective.If antipsychotic medication has not been effective and lithium is offered to a woman who is planning a pregnancy or pregnant, ensure:the woman knows that there is a risk of fetal heart malformations when lithium is taken in the first trimester, but the size of the risk is uncertain. Lithium levels may be high in breast milk with a risk of toxicity for the baby.If a woman taking lithium becomes pregnant, consider stopping the drug gradually over 4 weeks if she is well. Explain to her that:stopping the medication may not remove the risk of fetal heart malformations and there is a risk of relapse, particularly in the postnatal period, if she has bipolar disorder.If a woman taking lithium becomes pregnant and is not well or is at high risk of relapse, consider:switching gradually to an antipsychotic or stopping lithium and restarting it in the second trimester (if the woman is not planning to breastfeed and her symptoms have responded better to lithium than to other drugs in the past) or continuing with lithium if she is at high risk of relapse and an antipsychotic is unlikely to be effective. If a woman continues taking lithium during pregnancy:- check plasma lithium levels every 4 weeks, then weekly from the 36th week. Adjust the dose to keep plasma lithium levels in the woman’s therapeutic range- ensure the woman maintains an adequate fluid balance- ensure the woman gives birth in the hospital- ensure monitoring by the obstetric team when labour starts, including checking plasma lithium levels and fluid balance because of the risk of dehydration and lithium toxicity- stop lithium during labour and check plasma lithium levels 12 hours after her last dose.

Children are able to use a palmar grasp by the age of 6 months and use a pincer grasp by the age of 9 to 10 months. They can sit with support by 6 months and sit without support by 7 to 9 months. They can vocalize by 3 months. Stranger fear appears from 7 to 10 months. So this baby’s development is normal.

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

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.

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.

Pulmonary surfactant is a mixture of lipids and proteins which is secreted by the epithelial type II cells into the alveolar space.

The spinal muscular atrophies (SMAs) comprise a group of autosomal recessive disorders characterized by progressive weakness of the lower motor neurons. several types of spinal muscular atrophies have been described based on age when accompanying clinical features appear. The most common types are acute infantile (SMA type I, or Werdnig-Hoffman disease), chronic infantile (SMA type II), chronic juvenile (SMA type III or Kugelberg-Welander disease), and adult-onset (SMA type IV) forms.SMA type I – Acute infantile or Werdnig-Hoffman diseasePatients present before 6 months of age, with 95% of patients having signs and symptoms by 3 months. They have severe, progressive muscle weakness and flaccid or reduced muscle tone (hypotonia). Bulbar dysfunction includes poor suck ability, reduced swallowing, and respiratory failure. Patients have no involvement of the extraocular muscles, and facial weakness is often minimal or absent. They have no evidence of cerebral involvement, and infants appear alert.Reports of impaired fetal movements are observed in 30% of cases, and 60% of infants with SMA type I are floppy babies at birth. Prolonged cyanosis may be noted at delivery. In some instances, the disease can cause fulminant weakness in the first few days of life. Such severe weakness and early bulbar dysfunction are associated with short life expectancy, with a mean survival of 5.9 months. In 95% of cases, infants die from complications of the disease by 18 months.

Prepubertal atrophic vaginitis is due to a lack of vaginal oestrogen. The pathophysiology behind prepubertal atrophic vaginitis:1.The proximity of the vagina to the anus2.Lack of oestrogen – leads to thinning of the vaginal mucosa3.Lack of pubic hair to protect the area4.Lack of labial fat pads

Prednisone is used for the treatment of myasthenia gravis if there is no initial response to the anticholinesterase medications. Pyridostigmine can make the symptoms of myasthenia gravis worse if used  in the initial stages of treatment. 

Certain CHDs may present with a differential cyanosis, in which the preductal part of the body (upper part of the body) is pinkish but the post ductal part of the body (lower part of the body) is cyanotic, or vice versa (reverse differential cyanosis). The prerequisite for this unique situation is the presence of a right-to-left shunt through the PDA and severe coarctation of the aorta or aortic arch interruption or severe pulmonary hypertension. In patients with severe coarctation of the aorta or interruption of the aortic arch with normally related great arteries, the preductal part of the body is supplied by highly oxygenated pulmonary venous blood via the LA and LV, whereas the post ductal part is supplied by deoxygenated systemic venous blood via the RA, RV, main pulmonary artery (MPA) and the PDA. In the new-born with structurally normal heart, a differential cyanosis may be associated with persistent pulmonary hypertension of the new-born. In the cases of TGA with coarctation of the aorta or aortic arch interruption, the upper body is mostly supplied by systemic venous blood via the RA, RV, and ascending aorta, whereas the lower body is supplied by highly oxygenated pulmonary venous blood via the LA, LV, MPA, and then the PDA. For accurate detection of differential cyanosis, oxygen saturation should be measured in both preductal (right finger) and post ductal (feet) parts of the body.

These cardiovascular findings are suggestive of coarctation of the aorta, which is common among patients with Turner’s syndrome. Physical features of Turner’s syndrome include a short neck with a webbed appearance, a low hairline at the back of the head, low-set ears, and narrow fingernails and toenails that are turned upward.Atrioventricular septal defect is the most common cardiac anomaly in Down’s syndrome. Structural heart defects at birth (i.e., ventricular septal defect, atrial septal defect, patent ductus arteriosus) are common in Edward’s syndrome. Pulmonary stenosis with or without dysplastic pulmonary valve and hypertrophic cardiomyopathy are common in Noonan’s syndrome. Supravalvar aortic stenosis and peripheral pulmonary stenosis are found in William’s syndrome.

The most probable cause for chronic parotitis in this patient would be HIV infection.Rationale:Chronic infectious parotitis is relatively uncommon in children. While mycobacterial infection can result in chronic parotitis, HIV is a relatively more common cause. The presentation should always prompt an HIV test. Other options:- While mumps is the most common cause of acute viral parotitis, the chronic nature of the boy’s presentation rules it out. – Acute bacterial parotitis is usually unilateral and is warm and tender to touch.

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

The patient is suffering from an anaphylactic reaction to the cashew nut he consumed.Anaphylaxis:Anaphylaxis is an acute, rapidly progressing, potentially life-threatening IgE mediated Type I hypersensitivity reaction.It involves the release of mediators from mast cells, basophils and inflammatory cells. It is characterised by oedematous swelling of the airway mucosa giving rise to dyspnoea and respiratory distress.The most common cause of anaphylaxis in children is a food allergy.Risk factors for death in patients with anaphylaxis include asthma, age 11+, peanut allergy, and delay in adrenaline administration.Management of anaphylaxis includes:- Resuscitation – ABCD- Remove the allergen- IM adrenaline is given at ten microgram/kg or Nebulised adrenaline 5ml 1:1,000- IV Hydrocortisone is given at 4mg/kg- pro re nata IV fluid support. – Followed by observation.

Lead Poisoning Symptoms: Abdominal pain, bluish line on the gums (Burton line), wrist/foot drop, anaemia, nephropathy, encephalopathy, cognitive impairmentDiagnosis: Detectable in bloodBasophilic stippling of erythrocytes (disorder of heme synthesis) on smearTreatment: Succimer, Dimercaprol, EDTA

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.

Ehlers-Danlos Syndrome (EDS) is a group of genetic connective tissue disorders with over 13 clinical subtypes. Hyper-mobility is common to many of these subtypes. Vascular EDS is identified by thin, translucent skin prone to easy bleeding, as well as the risk of early arterial rupture, gastrointestinal perforation and uterine rupture. Those affected have dysmorphic features including a thin nose and lips, sunken cheeks and large eyes. The other features including| atrophic scars, a dominant family history, hyper extensible skin and kyphoscoliosis are not specific to vascular EDS and overlap in many of the subtypes.

Milestones of 6 monthsSocial and EmotionalKnows 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/CommunicationResponds to sounds by making sounds Strings vowels together when babbling (“ah,” “eh,” “oh”) and likes taking turns with the 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 DevelopmentRolls 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

The given presentation is highly suggestive of withdrawal effect of ketamine.Ketamine is known for its unique property of inducing dissociative anaesthesia. Emergence phenomenon (as seen in the child in question) is an adverse effect that occurs during recovery from dissociative anaesthesia. The components of emergence phenomenon include a euphoric state associated with hallucinations.

The skin lesion described is the typical presentation of a keloid scar.Keloid scars extend beyond the limits of the incision.Note:Surgical wounds are either incisional or excisional and either clean, clean-contaminated or dirty. The main stages of wound healing include:- Haemostasis:It occurs minutes to hours following injury. It is characterised by the vasospasm in adjacent vessels, platelet plug formation and generation of fibrin rich clot.- Inflammation: It occurs typically 1-5 days after the injury. Neutrophils migrate into the wound (this is often impaired in diabetes). Growth factors, including basic fibroblast growth factor and vascular endothelial growth factor, are released in this phase. Fibroblasts replicate within the adjacent matrix and migrate into wound, while macrophages and fibroblasts couple matrix regeneration and clot substitution.- Regeneration: It occurs typically between 7-56 days after the injury. The factors that stimulate this phase are platelet-derived growth factor and transforming growth factor. They stimulate fibroblasts and epithelial cells. Fibroblasts produce a collagen network. Furthermore, they cause angiogenesis and thus wound healing.- Remodelling: This is considered the longest phase of the healing process and may last up to one year (or longer). During this phase, fibroblasts become differentiated (myofibroblasts), and these facilitate wound contraction. Collagen fibres are remodelled, and microvessels regress, leaving a pale scar.Clinical correlation:Abnormal scar formation:- Hypertrophic scars:It is the condition where excessive amounts of collagen are produced within a scar. Nodules may be present histologically containing randomly arranged fibrils within and parallel fibres on the surface. The tissue itself is confined to the extent of the wound itself and is usually the result of a full-thickness dermal injury. They may go on to develop contractures.- Keloid scars: This is also a condition where excessive amounts of collagen occur within a scar. A keloid scar will typically pass beyond the boundaries of the original injury. They do not contain nodules and may occur following even trivial injury. They do not regress over time and may recur following removal.

The most probable diagnosis for this patient would be Coarctation of Aorta (CoA).Infants with CoA present within the first few weeks of life with signs suggestive of congestive cardiac failure and general circulatory shock. In these patients, the aorta is supplied by the right ventricle, via the ductus arteriosus. Pathophysiology:When the left ventricle supplies the aorta via the aortic isthmus, children are usually asymptomatic or may present with occasional complaints of leg pain. Associated cardiac anomalies are uncommon but for a bicuspid aortic valve, which is present in approximately 50% of cases. Good collateral circulation usually develops in these patients, which in the long term, causes notching of ribs. Clinical Presentation:Clinically, there may be hypertension in the upper limbs (or higher BP readings than in the lower limbs), and leg pulses are absent, or weak and delayed. A systolic click and aortic ejection systolic murmur are heard, caused by the bicuspid aortic valve. Management:The primary medical management is to treat hypertension. After stabilization, the patient can undergo definitive surgical repair. Transcatheter balloon angioplasty of the coarctation is controversial, but ballooning +/- stenting of re-coarctation following surgery is commonly performed.Systemic hypertension may occur following repair, even in the absence of re-coarctation necessitating the re-initiation/continuation of antihypertensive therapy in these patients.

Live virus vaccines include: Vaccinia (smallpox), Measles, Mumps, Rubella (MMR combined vaccine), Varicella (chickenpox), Influenza (nasal spray), Rotavirus, Zoster (shingles) and Yellow fever. Inactivated vaccines are Polio (IPV), Hepatitis A and Rabies.

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.

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.

Leiner disease belongs to a heterogeneous group of disorders associated with permanent or temporary complement C5 plasma deficiency. It is a rare disease that follows an autosomal recessive pattern of transmission. It is prevalent in female, breast-fed babies. The hallmark of this syndrome is severe diarrhoea, severe generalized seborrheic dermatitis, central nervous system defects, marked wasting, recurrent local and systemic infections, and failure to thrive.

During lumbar puncture, the first structures encountered by the needle are skin and subcutaneous tissue. But, since they are not provided in the options, the most superficial structure after them is the supraspinous ligament.Lumbar puncture is a procedure performed to obtain cerebrospinal fluid. The procedure is best performed at the level of L3/L4 or L4/5 interspace. During the procedure, the needle pierces the following structures in order from superficial to deep: Skin, subcutaneous tissue, supraspinous ligament, interspinous ligament, ligamentum flavum, the epidural space containing the internal vertebral venous plexus, dura, and arachnoid, finally entering the subarachnoid space. The supraspinous ligament connects the tips of spinous processes and the interspinous ligaments between adjacent borders of spinous processes.As the needle penetrates the ligamentum flavum, it causes a give. A second give is felt when the needle penetrates the dura mater and enters the subarachnoid space. At this point, clear CSF flows through the needle and can be collected for diagnostic purposes.

The prompt is suggestive of acute appendicitis. The Alvarado score is a clinical scoring system used to determine the likelihood of appendicitis, so this is the correct answer. A score greater than 6 is generally considered at risk for having acute appendicitis. It has 8 different criteria included (symptoms, signs, and lab results) and divides patients into appendicitis unlikely, possible, probable, and definite. The Center Score is a score to access the likelihood that pharyngitis is due to Strep. The Child-Pugh score predicts prognosis in liver cirrhosis. The Glasgow score is two different scores– the Glasgow coma score in trauma, which estimates level of consciousness, essentially, and The Glasgow Imrie Criteria which determines the severity of acute pancreatitis based on 8 lab values. The MELD score predicts the severity of end-stage liver disease.

CF is inherited in an autosomal recessive manner.This means that to have CF, a person must have a mutation in both copies of the CFTR gene in each cell. People with CF inherit one mutated copy of the gene from each parent, who is referred to as a carrier.CF carriers can pass their copy of the CFTR gene mutation to their children. Each time two CF carriers have a child together, the chances are: 25 percent (1 in 4) the child will have CF50 percent (1 in 2) the child will be a carrier but will not have CF25 percent (1 in 4) the child will not be a carrier of the gene and will not have CFThis male’s parents are obligate carrier because he has a sibling with CFSo the chances he is a carrier too are 2 in 3The risk of having an affected child is the chance of both himself and his partner being carriers: (2/3 × 1/25 = 2/75) × 1/4 = 1/150.

Haemophilia is a X-linked recessive disorder. In X-linked recessive inheritance only males are affected. An exception to this seen in examinations are patients with Turner’s syndrome, who are affected due to only having one X chromosome. X-linked recessive disorders are transmitted by heterozygote females (carriers) and male-to-male transmission is not seen. Affected males can only have unaffected sons and carrier daughters.

Damage to the left parietal lobe can result in what is called Gerstmann’s Syndrome. It includes right-left confusion, difficulty with writing (agraphia) and difficulty with mathematics (acalculia). It can also produce disorders of language (aphasia) and the inability to perceive objects normally (agnosia).Damage to the right parietal lobe can result in neglecting part of the body or space (contralateral neglect), which can impair many self-care skills such as dressing and washing. Right side damage can also cause difficulty in making things (constructional apraxia), denial of deficits (anosognosia) and drawing ability.Bi-lateral damage (large lesions to both sides) can cause Balint’s Syndrome, a visual attention and motor syndrome. This is characterized by the inability to voluntarily control the gaze (ocular apraxia), inability to integrate components of a visual scene (simultanagnosia), and the inability to accurately reach for an object with visual guidance (optic ataxia)Special deficits (primarily to memory and personality) can occur if there is damage to the area between the parietal and temporal lobes.Left parietal-temporal lesions can affect verbal memory and the ability to recall strings of digits. The right parietal-temporal lobe is concerned with non-verbal memory.Right parietal-temporal lesions can produce significant changes in personality.

The combination of frequent infections, eczema, and thrombocytopaenia are characteristic of Wiskott-Aldrich syndrome, which is due to an abnormality in the WASP gene. It is an X-linked recessive disorder that causes primary immunodeficiency owing to a combined B- and T-cell dysfunction.The other listed options are:1. PKD1: polycystic kidney disease2. CFTR: cystic fibrosis3. HFE1: haemochromatosis4. RET: multiple endocrine neoplasia, Hirschsprung’s disease

Malabsorption of fat-soluble vitamins is likely in most people with Cystic Fibrosis (CF).Factors that may contribute to fat-soluble vitamin deficiencies in CF include:- Fat maldigestion and malabsorption as a consequence of pancreatic insufficiency and bile salt deficiency.- Fat maldigestion and malabsorption due to suboptimal PERT or poor adherence to PERT especially with vitamin replacement therapy.- Poor dietary intake due to anorexia or poor dietary sources of vitamins.- Poor adherence to prescribed fat-soluble vitamin supplementation.- Inappropriate vitamin supplementation regimens.- Increased utilisation and reduced bioavailability.- Short gut syndrome due to previous bowel resection.- CF-related liver disease.- Chronic antibiotic use.Vitamin A is a fat-soluble vitamin that plays a role in the eye (dark adaptation), skin, respiratory and immune systems. Vitamin A deficiency may cause night blindness and can proceed to xerophthalmia in CF.Severe vitamin D deficiency causes rickets in children and Osteomalacia in adults.Vitamin E acts as an antioxidant reducing the effects of free radicals produced by infection and chronic inflammation, thus helping to protect cell membranes from oxidative damage.Vitamin E deficiency has been associated with haemolytic anaemia in infants and may cause ataxia, neuromuscular degeneration and compromised cognitive function. Oxidative stress is enhanced in CF due to chronic respiratory inflammation.Vitamin K is important for blood coagulation and bone health.

The age of the patient and the presence of immature white blood cells are suggestive of leukaemia. Hodgkin’s disease is unlikely in this age group and it usually presents with lymphadenopathy. In HIV, immature white blood cells are not present in the blood.

The signs and symptoms of vitamin D-dependent rickets begin within months after birth, and most are the same for all types of the condition. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop abnormally curved (bowed) legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the metaphysis, especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures.

Septic (infectious) arthritis is a bacterial infection of the joint space. Contamination occurs either via the bloodstream, iatrogenically, or by local extension (e.g., penetrating trauma). Patients with damaged (e.g., patients with rheumatoid arthritis) or prosthetic joints have an increased risk. Patients usually present with an acutely swollen, painful joint, limited range of motion, and a fever. Suspected infectious arthritis requires prompt arthrocentesis for diagnosis. In addition to the immediate broad-spectrum antibiotic therapy, surgical drainage and debridement may be necessary to prevent cartilage destruction and sepsis.

Osteoid osteoma is a bone forming tumour which affects individuals in the second decade of life. The patient presents with a history of pain in the lower limbs which is mostly at night and responds to NSAIDS. If the pain doesn’t respond to NSAIDS, then other differentials should be considered.

The most probable diagnosis in this patient would be pulmonary stenosis. Pulmonary Stenosis:Pulmonary valve murmurs are heard in the upper left sternal edge, associated with a thrill but no desaturation in the absence of an additional shunt. The ECG changes suggest right ventricular hypertrophy. Pulmonary stenosis is often well tolerated in childhood unless severe. These should be monitored with serial echocardiography, and balloon pulmonary valvoplasty should be considered once the pressure gradient reaches 64 mmHg.Other options:- Atrial septal defect: While atrial septal defects are associated with right ventricular outflow tract murmurs, they would not cause a thrill.- Patent ductus arteriosus: PDA murmurs can be audible in the left upper sternal edge, but would normally be audible in the left infraclavicular area and be continuous rather than ejection systolic. This left to right shunt would not cause desaturation but does cause left-sided volume loading and hence left-sided ECG changes.- Tetralogy of Fallot: Ventricular septal defect, overriding aorta, subpulmonary stenosis, and right ventricular hypertrophy. This would often cause a ULSE murmur with a thrill and RVH on ECG. However, this degree of obstruction would cause shunting from right to left, and this child would be desaturated.- Ventricular septal defect: Isolated ventricular septal defects cause pansystolic murmurs at the left lower sternal edge. They would have left-sided ECG changes and normal saturations (in the absence of pulmonary hypertension).

The most probable diagnosis for this patient would be congenital hypertrophic pyloric stenosis.Congenital Hypertrophic Pyloric Stenosis (CHPS):Pyloric stenosis should be ruled out in any baby who presents with a long-term history of vomiting and failure to thrive. Infants typically present with projectile, non-bilious vomiting and are said to be hungry and wanting to feed despite poor weight gain. A blood gas would be helpful in this instance, although the diagnosis can be made more accurately by observing the stenosis during ultrasound. Many infants have symptoms of gastroesophageal reflux disease, although only a small minority are unable to gain weight adequately. A UTI in infants can present with non-specific symptoms, but they might have a fever and can show poor feeding. Malrotation will present with bilious vomiting.The definitive surgical management is the Ramsteadt’s pyloromyotomy.

Precocious puberty is the attainment of normal pubertal biochemical and physical features at an abnormally earlier age. The age cut-offs commonly used to define precocious puberty are 8 years for females and 9 years for males. The onset of normal puberty is triggered by gonadotropic-releasing hormones from the hypothalamus.In most of the familial cases, the condition is transmitted by affected father. In boys, this makes up about 5% of the cases.Full adult height potential is not achieved in patients of precious puberty, although there is an advanced bone maturation.

People aged 16 or over are entitled to consent to their own treatment. This can only be overruled in exceptional circumstances. Children under the age of 16 can consent to their own treatment if they’re believed to have enough intelligence, competence and understanding to fully appreciate what’s involved in their treatment. This is known as being Gillick competent.Otherwise, someone with parental responsibility can consent for them.This could be:the child’s mother or fatherthe child’s legally appointed guardiana person with a residence order concerning the childa local authority designated to care for the childa local authority or person with an emergency protection order for the child.Giving the blood transfusion is therefore both clinically and ethically the right course of action.Jehovah’s Witnesses frequently carry a signed and witnessed Advance Decision Document listing the blood products and autologous procedures that are, or are not, acceptable to them It is appropriate to have a frank, confidential discussion with the patient about the potential risks of their decision and the possible alternatives to transfusion, but the freely expressed wish of a competent adult must always be respected.

One of the most common congenital viral infections is cytomegalovirus infection. It is caused by herpesvirus type 5. The clinical features include failure to thrive, intellectual disability, epilepsy, and microcephaly. The most common clinical complication is sensorineural deafness. The drug of choice for the treatment of neonatal CMV infection is ganciclovir, an anti-viral drug that has shown to prevent deafness.

Iron deficiency anaemia has the following laboratory characteristics: low haemoglobin, a low serum iron, a low serum ferritin, a low transferrin saturation, and a high total iron-binding capacity.

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 blood-brain barrier (BBB) is a term used to describe the unique properties of the microvasculature of the central nervous system (CNS). CNS vessels are continuous nonfenestrated vessels, but also contain a series of additional properties that allow them to tightly regulate the movement of molecules, ions, and cells between the blood and the CNS.Blood vessels are made up of two main cell types: Endothelial Cells (ECs) that form the walls of the blood vessels, and mural cells that sit on the abluminal surface of the EC layer. The properties of the BBB are largely manifested within the ECs, but are induced and maintained by critical interactions with mural cells, immune cells, glial cells, and neural cells, which interact in the neurovascular unit.Astrocytes are a major glial cell type, which extends polarized cellular processes that ensheath either neuronal processes or blood vessels.This includes regulating the contraction/dilation of vascular smooth muscle cells surrounding arterioles as well as PCs surrounding capillaries. Astrocytes have been identified as important mediators of BBB formation and function because of the ability of purified astrocytes to induce barrier properties.

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.

Frequent regurgitation of milk and microcytic anaemia is suggestive of a hiatus hernia. The reflux causes regurgitation of milk and frequent ulceration of the lower oesophageal mucosa potentially resulting in blood loss and anaemia. Duodenal atresia usually presents with bilious vomiting and pyloric stenosis presents with projectile vomiting. Alpha 1 antitrypsin deficiency and cystic fibrosis usually do not present with vomiting.

Individuals with Down syndrome are at increased risk for a variety of eye and vision disorders. Fortunately, many of these eye problems can be treated, especially if discovered at an early age. The quality of life can be further enhanced by the proper assessment and correction of eye problems. The most common eye findings include:- Refractive errors – Children with Down syndrome are more likely to need glasses than are other children. This may be due to myopia (near-sightedness), hyperopia (far-sightedness), and/or astigmatism. Refractive error may develop early in life or later on.- Strabismus – Between 20% and 60% of individuals with Down syndrome have eyes that are misaligned (strabismus). Esotropia (eyes that drift in) is most common while exotropia(eyes that drift out) occurs less frequently. Strabismus may be treated with glasses, patching and/or eye muscle surgery.- Keratoconus – A cone shaped distortion of the cornea (front layer of the eye), occurs in up to 30% of those with Down syndrome. Keratoconus is usually diagnosed around puberty and should be monitored regularly. Blurred vision, corneal thinning, or corneal haze may result from keratoconus. Keratoconus is worsened by eye rubbing| therefore, eye rubbing should be discouraged.- Cataracts – There is an increased incidence of congenital cataracts (present at birth) as well as acquired cataracts (develop later). Cataracts may progress slowly and should be monitored regularly, with surgical treatment performed when appropriate.- Glaucoma- There is an increased risk of infantile glaucoma (elevated pressure within the eye).- Blepharitis – Inflammation of the eyelids with redness at the edge of the lids and crusting around the lashes may occur and cause a feeling of dryness or burning. Treatment is with eyelid hygiene and topical antibiotics.- Tearing – Excessive tears or watering of the eyes may occur because the drainage channels are blocked or narrow (nasolacrimal duct obstruction). This may require surgical intervention.- Nystagmus – This is an involuntary “back-and-forth” movement or shaking of the eyes. It can affect vision to a mild or severe degree.

Time- EventWeek 1: ImplantationWeek 2: Formation of bilaminar diskWeek 3: Formation of primitive streakFormation of notochordGastrulationWeek 4: Limb buds begin to formNeural tube closesHeart begins to beatWeek 10: Genitals are differentiated

History of recurrent infections and failure to thrive (probably due to pancreatic enzyme insufficiency) is highly suggestive of cystic fibrosis. Pseudomonas has been identified as an important respiratory pathogen in patients with cystic fibrosis.

Adrenaline (epinephrine) narrows blood vessels and opens airways in the lungs. These effects can reverse severe low blood pressure, wheezing, severe skin itching, hives, and other symptoms of an allergic reaction.

Tinea corporis is a type of dermatophytosis, caused by Trichophyton or Microsporum. The disease is highly contagious and rapidly spreads to all the areas of the body, including the glabrous skin. It produces an erythematous itchy skin rash with a central area of clearance surrounded by raised scaly borders. Lesions can appear as concentric circles that overlap, referred to as tinea imbricate.

Immediate needle decompression of pneumoperitoneum is necessary to avoid tension pneumoperitoneum. Air reduction enema is the main stay of treatment for intussusception and is successful in around 90% of cases. A serious potential risk of this procedure is perforation of the colon and a pneumoperitoneum, leading to rapid distension of the abdomen and splinting of the diaphragm.

The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21.Currently, most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ).The main clinical features include prenatal growth deficiency, characteristic craniofacial features (dolichocephaly, short palpebral fissures, micrognathia external anomalies of the ears, and redundant skin at the back of the neck), distinctive hand posture (overriding fingers: index finger overlapping the third and 5th finger overlapping the 4th), nail hypoplasia, short hallux, underdeveloped thumbs, short sternum, and club feet and major malformations (particularly involving the heart).

The heart is the first organ to form and become functional, emphasizing the importance of transport of material to and from the developing infant. It originates about day 18 or 19 from the mesoderm and begins beating and pumping blood about day 21 or 22. It forms from the cardiogenic region near the head and is visible as a prominent heart bulge on the surface of the embryo. Originally, it consists of a pair of strands called cardiogenic cords that quickly form a hollow lumen and are referred to as endocardial tubes. These then fuse into a single heart tube and differentiate into the truncus arteriosus, bulbus cordis, primitive ventricle, primitive atrium, and sinus venosus, starting about day 22. The primitive heart begins to form an S shape within the pericardium between days 23 and 28. The internal septa begin to form about day 28, separating the heart into the atria and ventricles, although the foramen ovale persists until shortly after birth. Between weeks five and eight, the atrioventricular valves form. The semilunar valves form between weeks five and nine.

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.

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

Many of the symptoms favour an epilepsy diagnosis: uncontrollable jerking of the limbs and a loss of consciousness. A 24-hour EEG is used to diagnose epilepsy.

Key observations in the results:

1. Oxygen Saturation Step-Up:
   • There is a significant step-up in oxygen saturation from the right ventricle (72%) to the pulmonary artery (86%). This suggests the presence of left-to-right shunting of blood.
2. Pressure Differences:
   • The pressure in the pulmonary artery is elevated (53/13 mmHg), indicating pulmonary hypertension.

Differential Diagnosis:

1. Patent Ductus Arteriosus (PDA):
   • PDA can cause increased pulmonary blood flow, leading to a step-up in oxygen saturation in the pulmonary artery. The pulmonary artery pressures can also be elevated due to increased blood flow.
2. Primary Pulmonary Hypertension:
   • Typically presents with elevated pulmonary pressures but does not usually show a step-up in oxygen saturation.
3. Pulmonary Stenosis:
   • Would result in elevated right ventricular pressure but would not explain the step-up in oxygen saturation.
4. Septum Primum Atrial Septal Defect (ASD):
   • Would result in a step-up in oxygen saturation from the right atrium to the right ventricle, not between the right ventricle and pulmonary artery.
5. Tetralogy of Fallot:
   • Characterized by right ventricular outflow tract obstruction, VSD, right ventricular hypertrophy, and an overriding aorta. Oxygen saturation levels would typically be lower in the systemic circulation.

Intussusception causes abdominal pain leading to painful lower GI bleeding. Intussusception is a condition in which part of the intestine folds into the section next to it. It most commonly involves the small bowel and rarely the large bowel. Intussusception doesn’t usually require surgical correction. 80% of cases can be both confirmed and reduced using barium, water-soluble or air-contrast enema.However, up to 10% of cases can experience recurrence within 24 hours after reduction, warranting close monitoring during this period.Most children have self-limiting and minor bleeds. However, children with massive bleeds will need emergency care and stabilisation.The various causes of lower GI bleeding in neonates include:- Anal fissures- Milk protein or soy allergy- Intussusception- Volvulus- Coagulopathies including haemorrhagic disease of the new-born- Arteriovenous malformations- Necrotising enterocolitis- Hirschsprung enterocolitis- Meckel’s diverticulitis- Drugs (NSAIDs, heparin, indomethacin used for patent duct closure, dexamethasone)The various causes of lower GI bleeding in children aged between 1 month to 2 years include:- Infection- Anal fissures- Intussusception- Malrotation with volvulus- Milk protein or soy allergy- Polyp- Meckel’s diverticulum- Duplication cyst- Foreign body- AV malformation- Colitis of immune deficiency- Tumour- HaematomaThe causes of lower GI bleeding in children older than 2 years include:- Polyp- Inflammatory bowel disease (IBD)- Infectious diarrhoea (caused by Escherichia coli and Shigella)- Intussusception- Haemangiomas- Arteriovenous malformations- Vasculitis- Tumour

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

Biliary atresia is a rare condition that causes obstructive jaundice. Without surgical treatment, e.g. Roux-en-Y, Kasai procedure or liver transplantation, death is likely by 2 years of age. The aetiology of biliary atresia is unknown. Theories suggest a multitude of etiological and causative factors that are both genetic and acquired.The other conditions do not cause a conjugated hyperbilirubinemia.

Insufficient surfactant production in premature infants leads to respiratory distress syndrome or surfactant deficient lung disease (SDLD), characterized by structurally immature lungs. There are many risk factors of this disease, some of them include male gender, caesarean section, infants of diabetic mothers, being the second born of the premature twins, perinatal asphyxia, sepsis, and hypothermia. Maternal hypertension is not a recognized risk factor for respiratory distress syndrome| instead, pregnancy-induced hypertension and chronic maternal hypertension are the protective factors against this disease.

Maternal and fetal toxoplasma infection may be avoided by advising pregnant women to wear gloves when gardening or handling cat litter and to cook meat thoroughly. Affected babies are treated with pyrimethamine, sulfadiazine, and folic acid.

Vitamin A is a fat-soluble compound occurring in various forms. The RDA for 0-12 months old babies is 400-600micrograms/day. Most of the vitamin A is stored in the liver, making animal liver an excellent source of vitamin A. Vitamin A deficiency is characterized by the deposits of keratin in the conjunctiva, known as Bitot’s spots, keratomalacia, night blindness, and anaemia.Vitamin A toxicity or excess is characterized by hyperkeratosis, hypothyroidism, hypo/hyperpigmentation, etc.According to WHO guidelines, children under two years of age who develop measles should be given two additional doses of vitamin A supplementation 24 hours apart, which is necessary for preventing eye damage, blindness, and reducing mortality by 50%.

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.