Hirschsprung’s disease is characterized by congenital absence of the autonomic plexus (Meissner’s and Auerbach’s plexus) in the intestinal wall. Usually limited to the distal colon, it can occasionally involve the entire colon or even the small bowel. There is abnormal or absent peristalsis in the affected segment, resulting in continuous spasm of smooth muscle and partial/complete obstruction. This causes accumulation of intestinal contents and dilatation of proximal segment. Skip lesions are highly uncommon. This disease is seen early in life with 15% patients presenting in first month, 60% by 1 year of age and 85% by the age of 4 years. Symptoms include severe and complete constipation, abdominal distension and vomiting. Patients with involvement of ultra-short segments might have mild constipation with intervening diarrhoea. In older children, symptoms include failure to thrive, anorexia, and lack of an urge to defecate. On examination, an empty rectum is revealed with stool palpable high up in the colon. If not diagnosed in time, it can lead to Hirschsprung’s enterocolitis (toxic megacolon), which can be fulminant and lead to death. Diagnosis involves a barium enema or a rectal suction biopsy. Barium enema shows a transition in diameter between the dilated, normal colon proximal to the narrowed, affected distal segment. It is to be noted that barium enema should be done without prior preparation, which can dilate the abnormal segment, leading to a false-negative result. A 24-hour post-evacuation film can be obtained in the neonatal period – if the colon is still filled with barium, there is a high likelihood of Hirschsprung’s disease. Full-thickness rectal biopsy is diagnostic by showing the absence of ganglion cells. Acetylcholinesterase staining can be done to highlight the enlarged nerve trunks. Abnormal innervation can also be demonstrated by rectal manometry.

According to the Rumack-Matthew Normogram, accurate levels of paracetamol can be measured only between 4-15 hours. The levels measured before 4 hours post-ingestion would highly underestimate the level of paracetamol ingested.The patient in question presents 2 hours after ingestion. Hence the most appropriate time to measure the levels of acetaminophen would be a further 2 hours later. Other options:- Note that the treatment with NAC can be delayed until the 4-hour level is obtained and compared to the nomogram.- Furthermore, haemodialysis is only indicated if she develops hepato-renal syndrome that is likely to occur 72-96 hours post-ingestion.- Indications for acute liver transplantation include persistent acidosis, hepatorenal syndrome and worsening coagulopathy.

The presentation of the patient and the characteristic ring-like (Bull’s eye) rash are highly suggestive of a diagnosis of Lyme disease caused by Borrelia burgdorferi. The spirochete is transmitted by Ixodid ticks. The initial presentation of this infection includes an erythema migrans rash that starts from the site of tick bite and gradually expands. Other features supporting the diagnosis are the history of camping, fever, joint pain, and the neurological symptoms presenting as facial nerve palsy.

People with Systemic Juvenile Idiopathic Arthritis (also known as Stills disease) can have recurrent fevers, a macular rash, joint pain, joint deformities, an enlarged liver and/or spleen, and can occasionally have polyserositis, lung involvement or pericardial effusions. Rheumatoid factor and antinuclear antibodies are usually negative. Treatment is with non-steroidal anti-inflammatory drugs (NSAIDs) and the prognosis is better than for adult rheumatoid arthritis.In pauciarticular Still’s disease, antinuclear antibodies are present. Large joints are affected and most patients develop classic features of seronegative spondylarthritis.

The most probable diagnosis based on the clinical presentation is myocarditis secondary to Coxsackie virus infection.Myocarditis is an important cause of acquired heart failure. The other infective causes of myocarditis are influenza and adenoviruses, and bacterial causes as seen with Borrelia burgdorferi (Lyme disease). Rheumatic fever is unlikely if the ASO titres are within normal limits. While pancarditis may occur as part of Kawasaki disease| the patient is unlikely to present in failure.

The sensitivity of a screening test can be described in a variety of ways, typically such as sensitivity being the ability of a screening test to detect a true positive, being based on the true positive rate, reflecting a test’s ability to correctly identify all people who have a condition, or, if 100%, identifying all people with a condition of interest by those people testing positive on the test.The specificity of a test is defined in a variety of ways, typically such as specificity is the ability of a screening test to detect a true negative, being based on the true negative rate, correctly identifying people who do not have a condition, or, if 100%, identifying all patients who do not have the condition of interest by those people testing negative on the test.Sensitivity=[a/(a+c)]×100Specificity=[d/(b+d)]×100a: True positiveb: False Positivec: False negatived: True negative

Infants exposed to maternal HIV and with positive results require immediate management with co-trimoxazole prophylaxis, regardless of their CD4 levels. Antiretroviral treatment is necessary as well but it could wait until further work-up is complete.

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

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.

Correlation is a bivariate analysis that measures the strength of association between two variables and the direction of the relationship.Pearson r correlation: Pearson r correlation is the most widely used correlation statistic to measure the degree of the relationship between linearly related variables. Pearson’s correlation coefficient is the test that measures the statistical relationship, or association, between two continuous variables. It is known as the best method of measuring the association between variables of interest because it is based on the method of covariance. It gives information about the magnitude of the association, or correlation, as well as the direction of the relationship.The non-parametric Spearman or Kendall rank correlation coefficient is used if neither variable has a normal distribution or the sample size is small (i.e. <20).

Intensive physical training and participation in competitive sports during childhood and early adolescence may affect athletes’ pubertal development.Female athletes who do not begin secondary sexual development by the age of 14 or menstruation by the age of 16 warrant a comprehensive evaluation and treatment.Since she is still 14, adequate diet and observation are enough.

Children are very prone to dehydration during an episode of gastroenteritis. Dehydration is detected early by increased capillary filling time.

The presentation is suggestive of nephrotic syndrome. A trial of corticosteroids is the first step in treatment of idiopathic nephrotic syndrome. Diuretics are useful in managing symptomatic oedema. Cyclosporin and cyclophosphamide are indicated in frequently relapsing and steroid dependant disease.

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

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

Diabetes ketoacidosis is one of the most serious and acute complications of diabetes. At the time of presentation and during treatment of diabetic ketoacidosis (DKA), several metabolic and electrolyte derangements can ultimately result in respiratory compromise. Most commonly, hypokalaemia, hypomagnesemia and hypophosphatemia can eventually lead to respiratory muscles failure. Furthermore, tachypnoea, hyperpnea and more severely, Kussmaul breathing pattern can develop. Also, hydrostatic and non-hydrostatic pulmonary oedema can occur secondary to volume shifts into the extracellular space and secondary to increased permeability of the pulmonary capillaries. The presence of respiratory failure in patients with DKA is associated with higher morbidity and mortality. Being familiar with the causes of respiratory compromise in DKA, and how to treat them, may represent better outcomes for patients with DKA.

At the age of 18 months, Gertrude should be able to follow a one step command. At this age she would also be capable of putting words together in 1 or 2 word phrases, scribbling, throwing a ball, and building a tower of four cubes. At 2 she should be able to feed herself with a spoon or a fork, copy a vertical line, ride a tricycle, kick a ball and balance on one foot. Activities such as jumping will follow later on in her development at 3 years.

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

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.

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

The most probable diagnosis for this patient would be torsion of a hydatid cyst of the testis.Note:The differential diagnoses in acute testicular pain/swelling are listed in the possible answers. Testicular torsion typically affects adolescent males and presents with acute painful swelling and a horizontally lying testicle. Other options:- Epididymo-orchitis is diagnosed during surgery when a thickened erythematous epididymis is noted. Ectopic ureteric insertion into the vas must be excluded by ultrasound scan on an out-patient basis. The hydatid cyst or cyst of Morgagni represents the remnants of the Mullerian structure. In the pre-pubertal child, a surge in hormones can stimulate growth and chance of torsion. It is diagnosed by surgical exploration or by a blue dot sign. Idiopathic scrotal oedema tends to be within the scrotum itself, and the testis can be examined in the groin to exclude pain in the testis. All acute scrotal pain must be explored to exclude testicular torsion unless a surgical registrar is convinced of a torted hydatid cyst.- An 8-year-old is more likely to present with a torted hydatid cyst. The blue dot sign is diagnostic and can negate the need for surgical exploration. The age of the child also makes epididymo-orchitis less likely.- Idiopathic scrotal oedema presents with an erythematous and thickened scrotum. This can cross the midline and involve the whole scrotum.- Finally, an inguinal hernia would present with a mass in the groin extending to the scrotum that you cannot get above.

Lorazepam is known to cause respiratory depression and finally apnoea as a side effect.

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

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%.

The most commonly requested biochemistry tests for renal function are the urea and electrolytes. They supply important information when it comes to homeostasis and excretion. Glomerular filtration rate is also the essential standard marker of kidney health and is assessed by checking the creatinine levels. In this case as the child has lost fluids and electrolytes, this test will indicate the extent of the loss and allow for more appropriate replacement.

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

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.

Acute lymphoblastic leukaemia (ALL) is a cancer of the lymphoid line of blood cells characterized by the development of large numbers of immature lymphocytes. Symptoms may include feeling tired, frequent infections with fever as well as anaemia with thrombocytopenia. As an acute leukaemia, ALL progresses rapidly and is typically fatal within weeks or months if left untreated. The patient’s age also favours the diagnosis of ALL as it occurs most commonly in children, particularly those between the ages of two and five.

Carbon monoxide is a colourless gas, which is toxic to animals. It has a high affinity for haemoglobin (around 250 times greater than oxygen). It combines with haemoglobin forming carboxyhaemoglobin, which decreases the oxygen-carrying capacity of the blood, leading to a left-shift in the oxygen-dissociation curve. CO is produced endogenously in limited amounts (0.4ml per hour), but the toxic levels are higher.

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