The clinical picture suggests intracranial haemorrhage which is uncommon but prevalent in pre-term babies. The rest of the options suggest peripheral causes which do not affect the central function.

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. 

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.

Vaccines should not be given to a feverish child.

The history is suggestive of mumps. Mumps is a viral disease with initial signs and symptoms including fever, muscle pain, headache, poor appetite, and feeling tired. This is then usually followed by painful swelling of one or both parotid salivary glands. Mumps is a self-limiting condition treated only for symptomatic relief. As he currently is taking analgesics for pain relief, one should only offer reassurance.

HUS syndrome occurs mostly in children after some days of bloody diarrhoea. Damaged red blood cells also damage the kidney filtering unit and lead to sudden renal failure.

Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. This condition is inherited in an autosomal recessive pattern.Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues. The kidneys and eyes are especially vulnerable to damage| the muscles, thyroid, pancreas, and testes may also be affected.There are three distinct types of cystinosis. In order of decreasing severity, they are nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis.Nephropathic cystinosis begins in infancy, causing poor growth and a particular type of kidney damage (renal Fanconi syndrome) in which certain molecules that should be reabsorbed into the bloodstream are instead eliminated in the urine. The kidney problems lead to the loss of important minerals, salts, fluids, and many other nutrients. The loss of nutrients impairs growth and may result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. The nutrient imbalances in the body lead to increased urination, thirst, dehydration, and abnormally acidic blood (acidosis). By about the age of 2, cystine crystals may be present in the clear covering of the eye (cornea). The build-up of these crystals in the eye causes pain and an increased sensitivity to light (photophobia). Untreated children will experience complete kidney failure by about the age of 10. Other signs and symptoms that may occur in untreated people, especially after adolescence, include muscle deterioration, blindness, inability to swallow, diabetes, thyroid and nervous system problems, and an inability to father children (infertility) in affected men.The signs and symptoms of intermediate cystinosis are the same as nephropathic cystinosis, but they occur at a later age.

As this boy didn’t have a previous history, a structural abnormality is unlikely. Parents should be asked to take the child to the bathroom to void before bedtime. Either alarm therapy or pharmacologic therapy should be considered if the above method doesn’t work after 3 months. From the above 2 therapies, neither one is superior than the other, so alarm therapy should be tried first.

Upper respiratory tract infection when not treated accordingly can lead to otitis media and the patient presents with severe earache and fever.

The central nervous system comprises of two types of cells| neurons and neuroglial cells. Glial cells are the support cells that serve a number of important functions. Three types of neuroglia comprise the mature nervous system, which are ependymal cells, microglia, and macroglia. The macroglia are of two types oligodendrocytes and astrocytes. Microglia are the neuroglial cells that serve the function of phagocytosis since they are derived from the hematopoietic stem cells and share properties with tissue macrophages. They remove the cellular debris from the site of injury or normal cellular turnover by performing scavenger function.

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.

Severe cyanotic heart diseases such as pulmonary stenosis, transposition of the great vessels, hypoplastic left heart syndrome and truncus arteriosus all run the risk of a poor prognosis for a neonate. To continue the supply of oxygen the ductus arteriosus must be kept patent. This can be done with the immediate administration of Prostaglandin E1 as a temporary measure until a surgical intervention such as an atrial septostomy can be done. The closure of the duct can subsequently be initiated with the administration of indomethacin and oxygen.

A transverse lie is a common malpresentation. It occurs when the fetal longitudinal axis is perpendicular to the long axis of the uterus. The location of the spine determines if the foetus is back up (the curvature of the spine is in the upper part of the uterus) or back down (the curvature of the spine is in the lower part of the uterus).Good antenatal care, ECV, and elective caesarean section are the mainstay of the management.Spontaneous delivery of a term foetus is impossible with a persistent transverse lie and, in general, the onset of labour is an indication for the lower segment caesarean section (LSCS) in a case of a transverse lie.

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.

The best answer is Henoch-Schönlein Purpura (HSP). This patient has a characteristic rash and the labs are consistent with this diagnosis.

Tuberous sclerosis, an autosomal dominant disorder, may present with a variety of symptoms, including seizures, developmental delay, behavioural problems, skin abnormalities, and lung and kidney disease. Hamartomas are often associated.

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

The thyroglossal duct cyst is the most common congenital anomaly of the central portion of the neck. The thyroglossal duct cyst is intimately related to the central portion of the hyoid bone and usually elevates along with the larynx during swallowing. Thyroglossal cysts can be defined as an irregular neck mass or a lump which develops from cells and tissues left over after the formation of the thyroid gland during the developmental stages.

Linear regression is a basic and commonly used type of predictive analysis. The overall idea of regression is to examine two things: (1) do a set of predictor variables do a good job in predicting an outcome (dependent) variable? (2) Which variables, in particular, are significant predictors of the outcome variable, and in what way do they–indicated by the magnitude and sign of the beta estimates–impact the outcome variable.These regression estimates are used to explain the relationship between one dependent variable and one or more independent variables. Three major uses for regression analysis are (1) determining the strength of predictors, (2) forecasting an effect, and (3) trend forecasting

A minority of affected individuals may experience severe liver failure. This happens most frequently in people with Wilson’s disease during adolescence and more commonly in women. These individuals may rapidly develop signs and symptoms of liver disease, often associated with anaemia due to breakdown of red blood cells (haemolysis) and mental confusion. In some patients, liver disease does not reveal itself, and the patient develops neurologic (brain-related) symptoms. Common neurological symptoms of Wilson disease that may appear and progress with time include tremor, involuntary movements, difficulty swallowing (dysphagia), difficulty speaking and poor articulation (dysarthria), lack of coordination, spasticity, dystonic postures, and muscle rigidity. Almost all affected individuals with the neurological symptoms of Wilson’s disease have Kayser-Fleischer rings in their eyes that can be identified by a slit lamp examination.

Alopecia areata is seen in 6-8.8% of patients with Down syndrome, but only 0.1% of patients with alopecia areata have Down syndrome. The high frequency of alopecia areata in patients with Down syndrome suggests that a genetic linkage for alopecia areata may exist on chromosome 21.

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

Effective treatment can cure gonorrhoea and help prevent long-term complications. CDC recommends a single dose of 250mg of intramuscular ceftriaxone AND 1g of oral azithromycin. It is important to take all of the medication prescribed to cure gonorrhoea.

The most probable diagnosis based on the scenario provided above is hereditary spherocytosis.While jaundice and abdominal pain might make you think of hepatitis or cholecystitis in the first instance, the lack of fever suggests otherwise. The apyrexial presentation is against acute cholecystitis, and the past medical history reveals a chronic type of fatigue and two previous episodes of hepatitis. Furthermore, it is unlikely that the child has contracted infective hepatitis twice and now a third time! The most common cause of hepatitis in childhood is hepatitis A, however the lack of travel history to endemic areas makes this less likely. Hepatitis A is usually a mild, self-limiting disease that never presents with chronic symptoms. The chronicity of his fatigue and the blood results lead towards a haematological diagnosis. This is further substantiated by his low haemoglobin levels, high MCV and high reticulocyte count. Chronic haemolytic anaemia is the most likely cause, and the negative Coombs excludes autoimmune haemolytic anaemia (AIHA). Thus, leaving us with the answer as hereditary spherocytosis.Hereditary spherocytosis is a disorder that makes the cytoskeleton of red cells more fragile and therefore leads to red cell death and splenomegaly. Gallstones are a result of this red cell destruction and increased haem metabolism.

To quantify differences between percentages you can use Fisher’s exact test.Odds ratios, relative risks and number needed to treat are ways of quantifying differences between percentages in two groups, however are not in themselves significance tests.

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

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

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

Chickenpox is a highly communicable viral disease caused by human (alpha) herpesvirus 3 (varicella-zoster virus, VZV). It is transmitted from person to person by direct contact (touching the rash), droplet or air born spread (coughing and sneezing).

Pulmonary surfactant is a lipoprotein complex that is responsible for preventing the collapse of alveoli and increasing lung compliance.It is produced in the endoplasmic reticulum and secreted from the lamellar bodies of type 2 pneumocytes.Surfactant is essential for reducing surface tension at the air-water interface in the alveoli, thus preventing the collapse of alveoli during expiration. It is composed of dipalmitoyl phosphatidylcholine (DPPC), which is a phospholipid.In fetal development, production of surfactant begins around 26 weeks of gestation and reaches mature levels by 35 weeks.The deficiency of surfactant can result in neonatal respiratory distress syndrome or hyaline membrane disease, particularly in premature new-born babies.

The perinatal mortality rate is defined as the number of perinatal deaths per 1000 total births. Perinatal death includes the death of a live-born neonate within 7-days of life (early neonatal death) and the death of a fetus ≥ 22 weeks of gestation (stillbirth). Hence, the perinatal mortality rate is calculated by dividing the number of still births+ the number of early neonatal deaths by 1000 births.

Androgen insensitivity syndrome (AIS), previously referred to as testicular feminization, is an X-linked disorder in which the patients are genotypically male (possessing and X and Y chromosome) and phenotypically female. This disorder is rare, with reported incidences from 1 in 20,000 to 1 in 60,000 live male births, and is the result of a missing gene on the X chromosome that is responsible for the cytoplasmic or nuclear testosterone receptor. In its absence, the gonad, which is a testis, produces normal amounts of testosterone| however, the end tissues are unable to respond due to the deficient receptors leading to the external genitalia developing in a female fashion. Anti-Mullerian hormone, which is produced by the testis, is normal in these patients, leading to regression of the Mullerian duct. Wolffian duct development, which depends on testosterone, does not occur as the ducts lack the receptors. The cumulative effect is a genotypic male with normal external female genitalia (without pubic or axillary hair), no menses, normal breast development, short or absent vagina, no internal sex organs, and the presence of testis. Frequently, these patients have bilateral inguinal hernias in childhood, and their presence should arouse suspicion of the diagnosis.

Sturge-Weber syndrome (SWS), also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas that involve the leptomeninges (leptomeningeal angiomas [LAs]) and the skin of the face, typically in the ophthalmic (V1) and maxillary (V2) distributions of the trigeminal nerve. The hallmark of SWS is a facial cutaneous venous dilation, also referred to as a nevus flammeus or port-wine stain (PWS).Signs and symptoms:SWS is generally diagnosed clinically, based on the typical cutaneous, central nervous system (CNS), and ocular abnormalities associated with it.Neurological signs include the following:Developmental delay/intellectual disabilityLearning problemsAttention deficit-hyperactivity disorderInitial focal seizures progressing to frequent, secondarily generalized seizuresIncreasing seizure frequency and duration despite the use of antiepileptic drugs (AEDs)Increasing duration of a transient postictal deficitIncrease in focal or diffuse atrophy – Determined by serial neuroimagingProgressive increase in calcificationsDevelopment of hemiparesisDeterioration in cognitive functioningPhysical signs of SWS are as follows:Port-wine stainMacrocephalyOcular manifestationsSoft-tissue hypertrophyHemiparesisVisual lossHemianopsiaOcular involvement in SWS may include the following signs:BuphthalmosGlaucomaTomato-catsup colour of the fundus (ipsilateral to the nevus flammeus) with glaucomaConjunctival and episcleral haemangiomasDiffuse choroidal haemangiomasHeterochromia of the iridesTortuous retinal vessels with occasional arteriovenous communications

In children, food-induced anaphylaxis is the most common trigger and accounts for 37 %–85 % of cases, whereas insect bites/stings account for 5 %–13 % and medications account for 5 %–12 % Despite differences between studies, food allergy is clearly the most common cause of anaphylaxis in children

Transfusion with blood products carries a risk of acute and more chronic adverse reactions. These reactions can either be immune mediated due to a component mismatch, or non immune, underpinned by bacterial or viral contamination. Reactions range from very mild such as urticaria, to life threatening in the case of transfusion-related acute lung injury. In transfusion with packed red blood cells, the most common adverse event is pyrexia, while urticaria is the most common adverse event that follows infusion with FFP.

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

Clotrimazole interferes with the ergosterol biosynthesis by decreasing ergosteron I biosynthesis, increasing membrane permeability, and disrupting membrane-bound enzyme systems.Vaginal candidiasis is an extremely common condition. Predisposing factors include:- diabetes mellitus- drugs: antibiotics, steroids- pregnancy- immunosuppression – iatrogenic

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

Umbilical hernias are common in young children and they carry a low risk of incarceration as compared to inguinal hernias. About 90% umbilical hernias resolve by the age of 4 years. The best management for young children is to wait for resolution without surgical repair, unless there are complications. Parents should be assured that the child does not need to be referred to the general surgeon, nor should any home remedies such as taping a coin over the hernia be encouraged. If after the age of 4 it has not resolved, then surgery is indicated. This also applies to girls to prevent an unsightly hernia should she get pregnant.

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

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.

Codman’s triangle is the triangular area of new subperiosteal bone that is created when a lesion, often a tumour, raises the periosteum away from the bone. The main causes for this sign are osteosarcoma, Ewing’s sarcoma, eumycetoma, and a subperiosteal abscess.

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

Metformin works by improving the sensitivity of peripheral tissues to insulin, which results in a reduction of circulating insulin levels. Metformin inhibits hepatic gluconeogenesis and it also increases the glucose uptake by peripheral tissues and reduces fatty acid oxidation. Metformin has a positive effect on the endothelium and adipose tissue independent of its action on insulin and glucose levels.Metformin was the first insulin sensitising drug (ISD) to be used in PCOS to investigate the role of insulin resistance in the pathogenesis of the syndrome Several effects have been reported as related to metformin in PCOS patients including restoring ovulation, reducing weight, reducing circulating androgen levels, reducing the risk of miscarriage and reducing the risk of gestational diabetes mellitus (GDM). Other studies have reported that the addition of metformin to the ovarian stimulation regime in invitro fertilization (IVF) improves the pregnancy outcome. These effects will be addressed individually.

Haemolytic Uremic Syndrome affects children and is characterised by abdominal pain, a purpuric rash over the body, generalized pallor, haematuria and bloody diarrhoea. There is always a history of preceding diarrhoea caused usually by E.coli and it affects the renal system causing haematuria and deranged renal function tests.

The most probable cause for the child’s presenting symptoms and the findings in ultrasound would be the presence of an abnormal posterior urethral valve. A posterior urethral valve is a developmental anomaly that usually affects male infants (incidence 1 in 8000) leading to obstructive uropathy. Diagnostic features include bladder wall hypertrophy, hydronephrosis and bladder diverticula.Note:Posterior urethral valves are the most common cause of infra-vesical outflow obstruction in males. They can be diagnosed on antenatal ultrasonography. Due to the necessity of the fetal bladder to develop high emptying pressures in utero secondary to this anomaly, the child may develop renal parenchymal damage. This leads to renal impairment noted in 70% of boys at the time of presentation. Management:The immediate treatment would be to place a bladder catheter to relieve the acutely retained urine. The definitive treatment of choice would be an endoscopic valvotomy with a cystoscopic and renal follow up.

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

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).

The withdrawal and withholding of care has been reported in neonatology for over 30 years. ‘Withdrawal’ of life-saving treatment implies the elective discontinuation of ongoing life-supportive measures. ‘Withholding’ of treatment occurs when interventions necessary for immediate survival, such as surgical intervention or resuscitation (bag and mask/endotracheal ventilation, cardiac massage or adrenaline) are deliberately not administered.Withdrawal of treatment most commonly takes the form of withdrawing of ventilatory support. In the extremely premature neonate who has had poor response to bag and mask ventilation, this may mean stopping ventilation breaths, explaining to the parents the reason for discontinuation and offering comfort care according to the parents’ wishes. Parents should be prepared for the sequelae that may follow withdrawal from mechanical ventilation. The infant may become agitated secondary to hypoxia, display terminal gasping and, depending on the size and gestation of their infant, tachypnoea, intercostal recession or stridor may be evident. Parents may want to be involved in the extubation process. Following ventilator withdrawal, the length of time prior to death cannot be predicted and can be a significant cause of parental anguish if this is not explained. A side room and privacy should be made available for the family. NICE guidance suggests that women ‘should not be encouraged to hold their dead baby if they do not wish to’, although this is very much dependent on individuals.

Due to its cholestatic properties, Flucloxacillin can block bile flow through the liver, leading to the accumulation of bilirubin in the blood, giving rise to jaundice. Dark urine is the result of excessive bilirubin in the blood being filtered by the kidney. As the bile doesn’t move into the small intestine, stools are pale.

All the given development milestones are compatible with the given age.

Fine motor development involves greater use of the hands to perform more precise tasks. By 6 -12 months children should be able to reach for small objects and pass an object from one hand to the other. From 1 -2 years they can perform more complex tasks such a building a tower of blocks, feeding themselves, and turning knobs. In terms of pencil skills, they should be able to imitate scribbles and then spontaneously scribble. By the age of 2 years they can draw a line, and by three they can draw a circle. From the age of 3.5 they can draw a cross, 4.5 – a square, 5 – a triangle, and 6 a diamond.

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.

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.

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

The patient is most likely suffering from obstructive jaundice. Ultrasound of the abdomen is the superior diagnostic tool in detecting and assessing biliary system obstruction, because it is easy, available, accurate and non-invasive.

Based on the clinical scenario provided, the most probable diagnosis for this patient would be tuberous sclerosis which is an autosomal dominant condition.Among the options provided, only Neurofibromatosis Type 1 is inherited by an autosomal dominant pattern. Other options:- Beckwith-Wiedemann syndrome is an example of an imprinting disorder and results from abnormalities of inheritance or methylation of chromosome 11p15.- Cystic fibrosis is an autosomal recessive condition.- Duchenne Muscular Dystrophy is an example of an X-linked recessive condition.- Hypophosphataemic (Vitamin D resistant) rickets is an X-linked dominant condition.

Guidelines suggest that when hypothermia manifests in the context of a shockable rhythm, it might get harder to defibrillate. Therefore, defibrillation is recommended to occur at temperatures below 30°C, and to be limited in three shocks.

Complement activation plays a key role in the pathophysiology of SLE and it is recommended to continue monitoring serum levels of C3 and C4 to assess for disease activity. However, it is important to note that decreased serum complement is not consistently associated with disease flares.

Erythema Migrans is associated with Lyme disease, a tic transmitted infection caused by the spirochete Borrelia Burgdorferi. The rash usually appears at the bite site after 7 to 10 days. It is flat or slightly raised and migrates as the name suggests. Streptococcal throat infection and Crohn’s disease are both associated with erythema nodosum.Herpes simplex and Rheumatic fever may present with Erythema Multiforme and Erythema Marginatum respectively.

Nephrogenic Diabetes Insipidus is an acquired or hereditary condition that affects the water balance. It presents with polyuria and polydipsia, leading commonly to dehydration.

Distal renal tubular acidosis (dRTA) is characterised by a decreased hydrogen ion excretion from the alpha intercalated cells of the collecting duct of the distal nephron. The resultant acidosis causes calcium and phosphates to be released from bones to buffer the acidosis causing hypercalciuria. This precipitates calcium compounds in the kidney, predisposing it to renal stone formation. On the other hand, proximal renal tubular acidosis is characterised by an impairment in bicarbonate resorption. Both types lead to metabolic acidosis and electrolyte imbalances including potassium depletion. Children often present with failure to thrive. One way to differentiate between the two conditions is with an acid challenge test. In proximal RTA (type 2) administering an ammonium chloride load will decrease the urinary pH whereas in distal disease (type 1), the urine pH will not decrease below 5.3.

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in type IV collagen genes (COL4A5) and are inherited in an X-linked autosomal recessive pattern, although other inheritance patterns exist. Alport syndrome has autosomal dominant inheritance in about 5 percent of cases.

People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (haematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys become less able to function as this condition progresses, resulting in end-stage renal disease (ESRD).

People with Alport syndrome frequently develop sensorineural hearing loss, which is caused by abnormalities of the inner ear, during late childhood or early adolescence. Affected individuals may also have misshapen lenses in the eyes (anterior lenticonus) and abnormal coloration of the light-sensitive tissue at the back of the eye (retina). These eye abnormalities seldom lead to vision loss.

Significant hearing loss, eye abnormalities, and progressive kidney disease are more common in males with Alport syndrome than in affected females.

Primary sclerosing cholangitis (PSC) is a long-term progressive disease of the liver and gallbladder characterized by inflammation and scarring of the bile ducts which normally allow bile to drain from the gallbladder. Early cholangiographic changes can include fine or deep ulcerations of the common bile duct. As PSC progresses, segmental fibrosis develops within the bile ducts, with saccular dilatation of the normal areas between them, leading to the typical beads-on-a-string appearance seen on cholangiography. Although these strictures can be found anywhere on the biliary tree, the intrahepatic and extrahepatic bile ducts are simultaneously involved in the vast majority of cases.

Bulimia nervosa is an eating disorder that involves frequent episodes of binge eating followed by inappropriate purging behaviour. The underlying reason for this behaviour is distorted self-image. Bulimia leads to several medical issues, including various laboratory derangements. Among these deranged laboratory parameters are the hormone cholecystokinin, which is found to be decreased in women having bulimia. It is hypothesized that the bingeing episodes observed in patients with bulimia are due to lower levels of CCK since normal levels of CCK are involved in maintaining satiety and controlling the urge to binge eat.

Infective endocarditis (IE) is caused by a bacterial, or fungal infection which damages the heart’s endothelium and can thus lead to changes in heart function, valve incompetencies, possible cardiac failure, as well other associated skin and organ changes. Organisms common in IE include Staphylococcus aureus and Streptococcus viridians. The HACEK organisms (Haemophilus, Actinobacillus, Cardiobacterium, Eikenella, and Kingella species) are common in neonates. The Duke criteria uses 2 major, or 1 major and 3 minor criteria, or 5 minor criteria to diagnose infective endocarditis. Major criteria include:- a positive blood culture and evidence of endocardial involvement. Minor criteria include: – evidence of predisposition (a heart condition of injection drug use)- a fever- vascular phenomena such as Janeway lesions- immunologic phenomena such as Osler’s nodes and Roth’s spots| and- microbiological or serological evidence of active infection.

At the age of three years a child is to be able to dress and undress himself with supervision, eat with a spoon and fork, build a tower with 9 cubes, give their full name and copy a circle. The child will not be able to make good cuts with scissions until he is about 5 years old.

Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence. Common features of this condition include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, and salt craving. Also common is a tingling or prickly sensation in the skin (paraesthesia), most often affecting the face. Some individuals with Gitelman syndrome experience excessive tiredness (fatigue), low blood pressure, and a painful joint condition called chondrocalcinosis. Studies suggest that Gitelman syndrome may also increase the risk of a potentially dangerous abnormal heart rhythm called ventricular arrhythmia.

The child has a history of pharyngitis followed 10 days later by signs of glomerulonephritis. In this particular case, it is most probably a post-streptococcus glomerulonephritis which accounts for 80% of paediatric cases of glomerulonephritis.

Capillary haemangiomas are one of the most common benign tumours of infancy. They are benign endothelial cell neoplasms that are typically absent at birth and characteristically have rapid growth in infancy with spontaneous involution later in life. This is in contrast to another known group of childhood vascular anomalies, vascular malformations. Vascular malformations, such as lymphangiomas and arteriovenous malformations, are present at birth and are characterized by very slow growth with persistence into adult life. The indications for treatment can be divided into systemic, ophthalmic, and dermatologic reasons. Systemic reasons for intervention include congestive heart failure, thrombocytopenia, haemolytic anaemia, and nasopharyngeal obstruction. Ophthalmic indications for intervention include occlusion of the visual axis, optic nerve compression, severe proptosis, and anisometropia. Dermatologic indications for intervention include maceration and erosion of the epidermis, infection, and cosmetic disfigurement.The first-line treatment of capillary haemangiomas is simple observation. Since most of these lesions regress on their own, there is no need to intervene unless one of the above criteria is met.

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

Maternal smoking is one of the most significant risk factors for pyloric stenosis.Remember the three Ps for Pyloric Stenosis:P – palpable massP – peristalsisP – projectile vomiting

The baby may have hydrocephalus and no surgery can be done until it is excluded.Cranial sonography is an important part of neonatal care in general, and high-risk and unstable premature infants, in particular. It allows rapid evaluation of infants in the intensive care units without the need for sedation and with virtually no risk. Expectedly, sonography represents an ideal imaging modality in neonates due to its portability, lower cost, speed, and lack of ionizing radiations. Although there are numerous indications for cranial sonography, it appears to be most useful for detection and follow-up of intracranial haemorrhage, hydrocephalus, and periventricular leukomalacia (PVL).

Answer: LaparoscopyThe diagnostic accuracy of laparoscopy for impalpable testis is well recognized. Approximately 20% of undescended testes are truly impalpable, and laparoscopy is actually regarded as the gold standard for their localization| none of the currently available imaging techniques (ultrasound, computerized tomography, or magnetic resonance imaging) has proven to be 100% reliable in predicting the presence or absence of a testis.In this respect, not only can laparoscopy be considered the most reliable tool to provide information on the location of the testis but also to confirm its absence.Undescended testes in boys is a very common congenital abnormality in which one or both testes does not reach the bottom of the scrotum prior to birth. The incidence of the condition is 3–5% among all boys at birth, and decreases to 0.8–1% after 6 months of age.Males with undescended testes have a lower sperm count, poorer quality sperm, and lower fertility rate, compared to males whose testicles descend normally| the rate of subfertility increases with bilateral involvement and increasing age at the time of orchidopexy.

Breslow thickness is measured from the top of the granular layer of the epidermis (or, if the surface is ulcerated, from the base of the ulcer) to the deepest invasive cell across the broad base of the tumour (dermal/subcutaneous) as described by Breslow.Margins of excision-Related to Breslow thicknessLesions 0-1mm thick – 1cmLesions 1-2mm thick – 1- 2cm (Depending upon site and pathological features)Lesions 2-4mm thick – 2-3 cm (Depending upon site and pathological features)Lesions >4 mm thick – 3cmMarsden J et al Revised UK guidelines for management of Melanoma. Br J Dermatol 2010 163:238-256.

A lymphangioma is a swelling or mass that occurs mainly in the head, neck, and mouth. Lymphangiomas are the result of a congenital condition and are usually apparent at birth, or at least by the time a person is 2 years old. It is rare in adult population and when detected, it can be treated with surgical excision. Branchial cyst in most cases does not transilluminate which lymphangioma does.

Undescended testis (UDT) is a common abnormality, affecting about 1/20 males at birth. Half of these have delayed testicular descent, with the testis in the scrotum by 10-12 weeks after term. Beyond this spontaneous descent is rare. Current treatment recommendations are that UDT beyond 3 months need surgery between 6-12 months of age. Some children have scrotal testes in infancy but develop UDT later in childhood because the spermatic cord does not elongate with age, leaving the testis behind as the scrotum moves further from the groin. The maldescended testis suffers heat stress when not at the lower scrotal temperature (33 degrees Celsius), interfering with testicular physiology and development of germ cells into spermatogonia. Recent evidence suggests orchidopexy between 6-12 months improves germ cell development, with early reports of improved fertility, but no evidence yet for changes in malignancy prognosis.Hypospadias is also a common abnormality in new-born males, affecting about 1/150 boys. Androgens control masculinization of the genital tubercle into penis between 8-12 weeks’ gestation, with tabularization of the urethra from the perineum to the tip of the glans. If this process is disrupted hypospadias occurs, with a variable proximal urethral meatus, failed ventral preputial development producing a dorsal hood, and discrepancy in the ventral versus dorsal penile length, causing a ventral bend in the penis, known as chordee. Surgery to correct hypospadias is recommended between 6-18 months.

European guidelines suggest that triple therapy for 1 week is acceptable and sufficient for H. pylori eradication. Although triple therapy for 2 weeks might have higher therapeutic rates, it also carries a higher risk of side effects. Triple therapy includes amoxicillin and clarithromycin and a proton-pump inhibitor, usually omeprazole.

The sign being elicited in this patient is Nikolsky’s sign. Based on the findings, the patient is suffering from toxic epidermal necrolysis.Nikolskys sign: Rubbing the skin causes exfoliation of the outer layer and usually blistering within a few minutes. Other options:- Cullen’s sign: Periumbilical bruising due to intra-abdominal haemorrhage. If the discolouration is seen in the flanks, it is called Cullen’s sign. Underlying pathology includes ruptured ectopic pregnancy and haemorrhagic pancreatitis. – Forscheimer’s sign: It is a fleeting exanthem that is seen as small, red spots (petechiae) on the soft palate. Associated with rubella and glandular fever. Gorlin’s sign: It is the ability to touch the tip of the nose with the tongue. Increased incidence in children with connective tissue disorders, e.g. Ehler Danlos syndrome. – Auspitzs sign: These are small bleeding points left behind when psoriatic scales are lifted off. It is not a very sensitive or specific sign. Other cutaneous signs include:- Hair collar sign: It is a collar of hypertrichosis around an area of cranial dysraphism.- Hertoghe’s sign (Queen Anne’s sign): It is the loss of lateral one-third of eye-brows. It is associated with numerous conditions, including lupus, HIV, and hypothyroidism. – Dariers sign: It is the swelling, itching and erythema that occurs after stroking skin lesions of a patient with systemic mastocytosis or urticarial pigmentosa. – Dermatographism: Rubbing the skin causes a raised, urticarial lesion. – Koebners phenomenon: It is the appearance of new skin lesions in areas of trauma.- Breakfast, lunch, and dinner sign: Linear pathway of a group of three to five papules caused by the common bed bug, Cimex lectularius. – Buttonhole sign: In type 1 neurofibromatosis, neurofibromas can be invaginated with the finger back into the subcutis. The nodule will reappear after the release of pressure. The sign is also positive for dermatofibromas. – Crowe’s sign: Axillary freckling seen in type I neurofibromatosis.

Erythema nodosum (EN) is an acute, nodular, erythematous eruption that usually is limited to the extensor aspects of the lower legs. Chronic or recurrent erythema nodosum is rare but may occur.Currently, the most common cause of erythema nodosum is streptococcal infection in children and streptococcal infection and sarcoidosis in adults.The eruptive phase of erythema nodosum begins with flulike symptoms of fever and generalized aching. Arthralgia may occur and precedes the eruption or appears during the eruptive phase. Most lesions in infection-induced erythema nodosum heal within 7 weeks, but active disease may last up to 18 weeks. In contrast, 30% of idiopathic erythema nodosum cases may last more than 6 months. Febrile illness with dermatologic findings includes abrupt onset of illness with initial fever, followed by a painful rash within 1-2 days.