Answer: Bochdalek herniaA Bochdalek hernia is one of two forms of a congenital diaphragmatic hernia, the other form being Morgagni hernia. A Bochdalek hernia is a congenital abnormality in which an opening exists in the infant’s diaphragm, allowing normally intra-abdominal organs (particularly the stomach and intestines) to protrude into the thoracic cavity. In the majority of patients, the affected lung will be deformed, and the resulting lung compression can be life-threatening. Bochdalek hernias occur more commonly on the posterior left side (85%, versus right side 15%).In normal Bochdalek hernia cases, the symptoms are often observable simultaneously with the baby’s birth. A few of the symptoms of a Bochdalek Hernia include difficulty breathing, fast respiration and increased heart rate. Also, if the baby appears to have cyanosis (blue-tinted skin) this can also be a sign. Another way to differentiate a healthy baby from a baby with Bochdalek Hernia, is to look at the chest immediately after birth. If the baby has a Bochdalek Hernia it may appear that one side of the chest cavity is larger than the other and or the abdomen seems to be scaphoid (caved in).Situs inversus (also called situs transversus or oppositus) is a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions. The normal arrangement of internal organs is known as situs solitus while situs inversus is generally the mirror image of situs solitus. Although cardiac problems are more common than in the general population, most people with situs inversus have no medical symptoms or complications resulting from the condition, and until the advent of modern medicine it was usually undiagnosed. In the absence of congenital heart defects, individuals with situs inversus are homeostatically normal, and can live standard healthy lives, without any complications related to their medical condition. There is a 5–10% prevalence of congenital heart disease in individuals with situs inversus totalis, most commonly transposition of the great vessels. The incidence of congenital heart disease is 95% in situs inversus with levocardia.Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. When the protein is not working correctly, it’s unable to help move chloride — a component of salt — to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky. In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infections, inflammation, respiratory failure, and other complications. Necrotizing enterocolitis (NEC) is a medical condition where a portion of the bowel dies. It typically occurs in new-borns that are either premature or otherwise unwell. Symptoms may include poor feeding, bloating, decreased activity, blood in the stool, or vomiting of bile.The exact cause is unclear. Risk factors include congenital heart disease, birth asphyxia, exchange transfusion, and premature rupture of membranes. The underlying mechanism is believed to involve a combination of poor blood flow and infection of the intestines. Diagnosis is based on symptoms and confirmed with medical imaging.Morgagni hernias are one of the congenital diaphragmatic hernias (CDH), and is characterized by herniation through the foramen of Morgagni. When compared to Bochdalek hernias, Morgagni hernias are:-anterior-more often right-sided (,90%)-small-rare (,2% of CDH)-at low risk of prolapseOnly ,30% of patients are symptomatic. New-borns may present with respiratory distress at birth similar to a Bochdalek hernia. Additionally, recurrent chest infections and gastrointestinal symptoms have been reported in those with previously undiagnosed Morgagni hernia.The image of the transverse colon is herniated into the thoracic cavity, through a mid line defect and this indicates that it is a Morgagni hernia since the foramen of a Morgagni hernia occurs in the anterior midline through the sternocostal hiatus of the diaphragm, with 90% of cases occurring on the right side.Clinical manifestations of congenital diaphragmatic hernia (CDH) include the following:Early diagnosis – Right-side heart| decreased breath sounds on the affected side| scaphoid abdomen| bowel sounds in the thorax, respiratory distress, and/or cyanosis on auscultation| CDH can often be diagnosed in utero with ultrasonography (US), magnetic resonance imaging (MRI), or bothLate diagnosis – Chest mass on chest radiography, gastric volvulus, splenic volvulus, or large-bowel obstructionCongenital hernias (neonatal onset) – Respiratory distress and/or cyanosis occurs within the first 24 hours of life| CDH may not be diagnosed for several years if the defect is small enough that it does not cause significant pulmonary dysfunctionCongenital hernias (childhood or adult onset) – Obstructive symptoms from protrusion of the colon, chest pain, tightness or fullness the in chest, sepsis following strangulation or perforation, and many respiratory symptoms occur.

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.

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

Metabolic alkalosis is characterized by a primary increase in the concentration of serum bicarbonate ions. This may occur as a consequence of a loss of hydrogen ions or a gain in bicarbonate. Hydrogen ions may be lost through the kidneys or the GI tract, as for example during vomiting, nasogastric suction or use of diuretics. Intracellular shifting of hydrogen ions develops mainly during hypokalaemia to maintain neutrality. Gain in bicarbonate ions may develop during administration of sodium bicarbonate in high amounts or in amounts that exceed the capacity of excretion of the kidneys, as seen in renal failure. Fluid losses may be another cause of metabolic alkalosis, causing the reduction of extracellular fluid volume.

In people with juvenile myoclonic epilepsy, symptoms can be brought on by: -Sleep deprivation-Psychological stress-Alcohol and drug use-Noncompliance of medication-Flickering lights such as strobe lights -Menses-Time of day – usually mornings

Erythema nodosum (EN) is an acute, nodular, erythematous eruption that usually is limited to the extensor aspects of the lower legs. It is a delayed hypersensitivity reaction to a variety of antigens| circulating immune complexes have not been found in idiopathic or uncomplicated cases but may be demonstrated in patients with inflammatory bowel disease.Currently, the most common cause of erythema nodosum is a streptococcal infection in children and streptococcal infection and sarcoidosis in adultsIn most patients, erythema nodosum is a self-limited disease and requires only symptomatic relief using nonsteroidal anti-inflammatory drugs (NSAIDs), cool wet compresses, elevation, and bed rest.

Oligomenorrhoea and BMI of 40.4 is suggestive of Polycystic ovary syndrome (PCOS). To diagnose PCOS 2 out of following 3 criteria should be present : oligo/anovulation, hyperandrogenism, clinical (hirsutism or less commonly male pattern alopecia) or biochemical (raised FAI or free testosterone) and polycystic ovaries on ultrasound.

Leukocoria is an abnormal red reflex in which the pupil appears white. It represents various abnormalities of the visual media and is one of the primary signs of retinoblastoma. Other possible causes of leukocoria include congenital cataracts, toxocariasis, Norrie disease, retinopathy of prematurity, and Coat’s disease. Gillespie syndrome is an autosomal recessive condition characterized by congenital hypotonia, multiple ocular defects, hypoplasia of the cerebellum, and vertebral deformities. The ocular defects consist of aniridia, photophobia, reduced visual acuity, and the inability of the pupillary sphincter to contract. Leukocoria is not associated with this syndrome.

Developmental milestones at the age of 2 months are as follows:Social and Emotional:- Begins to smile at people – Can briefly calm herself (may bring hands to mouth and suck on hand)- Tries to look at the parents Language/Communication:- Coos, makes gurgling sounds – Turns head toward sounds Cognitive (learning, thinking, problem-solving):- Pays attention to faces – Begins to follow things with eyes and recognize people at a distance – Begins to act bored (cries, fussy) if an activity doesn’t changeMovement/Physical Development:- Can hold head up and begins to push up when lying on tummy – Makes smoother movements with arms and legs

The presenting features and the surgical site provided in the clinical scenario are highly suggestive of ipsilateral hypoglossal nerve injury.Note:Three cranial nerves may be injured during submandibular gland excision.- Marginal mandibular branch of the facial nerve- Lingual nerve- Hypoglossal nerveHypoglossal nerve damage may result in the paralysis of the ipsilateral aspect of the tongue. The nerve itself lies deep to the capsule surrounding the gland and should not be injured during an intracapsular dissection. The lingual nerve is probably at higher risk of injury. However, the effects of lingual nerve injury are predominantly sensory rather than motor.Thus, the most appropriate answer is the hypoglossal nerve.

PDA is particularly common in premature babies and it is managed by indomethacin administration. However, if PDA is not the only defect, prostaglandin E1 can be administered in order to keep the ductus open until the surgery takes place.

The equation, lung function = 3.2 + (1.7 x height) is linear, but this does not necessarily mean that the relationship itself is linear. The equation is able to predict that taller individuals are more likely to have greater lung functions. No information is given on whether the coefficients and the R value are statistically significant.

The trigeminal nerve is responsible for the sensory innervation of the head, and the muscles of mastication. The nerve is divided into three branches, the ophthalmic nerve (V1) the mandibular nerve (V2) and the maxillary nerve (V3) which all exit the skull through their respective foramina. An easy way to remember these foramina is with the following mnemonic:Standing Room Only, for V1-V3 respectivelyV1- Superior orbital FissureV2- foramen RotundumV3 foramen Ovale

Puberty is a period of transitioning into adulthood by developing full reproductive potential by undergoing drastic physiological and psychological changes. For boys, it occurs around 9-16 years of age typically. The process of pubertal changes is usually divided into stages called tanner’s stages. The physiologic changes of puberty are initiated by the release of gonadotropin-releasing hormones from the hypothalamus, which then interact with numerous endogenous and environmental stimuli to bring about the physical pubertal features. Tanner stage 2 in boys is characterized by the thinning and reddening of the scrotal skin.The growth spurt of around 9cm per year is expected in boys, at the peak velocity.Testicular enlargement of >3cm commences puberty.Pubarche, in the absence of other secondary sexual characteristics, is pathological.Adrenarche is the increase in the secretion of adrenal androgens, occurring prior to increased gonadotropin release.

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.

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.

Total parenteral nutrition (TPN) frequently causes derangement of liver function in children. Other options:- While line sepsis and thromboembolism are recognised complications of TPN, they do not occur frequently. – A child who is on TPN will require regular blood tests because of the potential for the development of electrolyte abnormalities. Need to observe their liver function, in order to provide TPN more accurately.

The boy is most likely to have sustained an injury to his brachial plexus as a result of upward traction of his arm for an extended period of time. We can rule out the topmost nerve roots of the brachial plexus, C6 and C7 as these supply the larger muscles of the arm responsible for moving the shoulder, the elbow and the wrist. The anatomical structure affected is therefore the T1 nerve root which is responsible for movement of the muscles in the hand. This type of injury is called a Klumpke’s Palsy, which is the result of a hyper-abducted trauma to the arm, damaging the C8 and T1 nerve roots. While the radial and ulnar nerve also innervate the hand, the history given points to Klumpke’s palsy as the best explanation for this mechanism of injury.

Based on the clinical scenario, the most probable diagnosis is Wilson’s disease. Elevated serum ceruloplasmin levels can confirm the diagnosis.Serum ceruloplasminWilson’s disease causes reduced binding of copper to ceruloplasmin, which is the body’s primary copper carrying protein. As a result, copper cannot be excreted into the bile. Copper, therefore, builds up in the liver, causing toxicity and is secreted into the bloodstream unbound to ceruloplasmin. This free copper is deposited around the body, especially the brain, eyes and kidneys. The genetic defect means that ceruloplasmin is not released into the bloodstream| therefore, ceruloplasmin is low in Wilson’s disease.Other options:- Microscopic evaluation of the hair is performed in Menke’s disease, which is a disease of copper absorption leading to copper deficiency. This causes kinky hair, failure to thrive and neurological symptoms (such as hypotonia).- Magnetic resonance imaging (MRI) scan of the brain: An MRI brain may show features of Wilson’s disease (especially in the basal ganglia), but it is not diagnostic.- Serum ferritin: Serum ferritin becomes high in haemochromatosis. This classically causes cirrhosis, bronzing of the skin, cardiomyopathy and diabetes.- Ultrasound scan of the abdomen: While it is useful in any case of hepatomegaly| it is not going to provide the diagnosis in this case.

The most probable cause for the patient’s symptoms is intussusception.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.Other options:- Enteric duplication: a duplication cyst could give all these features, although it may contain sufficient gastric epithelium to produce a positive Meckel’s scan. However, this is comparatively rare. – Meckel’s diverticulum: Scintigraphy has poor sensitivity making the possibility of a bleed from a Meckel’s diverticulum a genuine differential for this patient. However, considering the presence of features of bowel obstruction in the patient, a Meckel’s diverticulum bleeding and obstructing at the same time would be a rare phenomenon. – Midgut volvulus: It is also a plausible differential in this patient. However, for the given age group, a midgut volvulus is relatively uncommon compared to intussusception. – Acute appendicitis: While it is true that appendicitis can present acutely with a palpable mass and bowel obstruction, it rarely presents with rectal bleeding.

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.

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

Henoch-Schönlein purpura (HSP) rashes are commonly found on the legs, feet, and buttocks while Immune thrombocytopenia (ITP) rashes manifest predominantly on the lower legs. HSP happens following a sore throat while ITP usually happens following an URTI or Flu. HSP is an inflammation of a blood vessel (vasculitis) while ITP is immune mediated insufficiency of platelets.

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

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

CSF is produced mainly by a structure called the choroid plexus in the lateral, third and fourth ventricles. CSF flows from the lateral ventricle to the third ventricle through the interventricular foramen (also called the foramen of Monro). The third ventricle and fourth ventricle are connected to each other by the cerebral aqueduct (also called the Aqueduct of Sylvius). CSF then flows into the subarachnoid space through the foramina of Luschka (there are two of these) and the foramen of Magendie (only one of these).Absorption of the CSF into the blood stream takes place in the superior sagittal sinus through structures called arachnoid villi . When the CSF pressure is greater than the venous pressure, CSF will flow into the blood stream.

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

If a child is not saying single words with meaning by 18 months it suggests that he or she is not following normal developmental milestones and further investigation is needed. Children are usually expected to be dry by day at the age of 3 years and dry by night at the age of 4 years, however 10% of 5 year old children and 5% of 10 year old children still wet the bed.

Anorexia nervosa is an eating disorder defined by restriction of energy intake relative to requirements, leading to a significantly low body weight. Patients will have an intense fear of gaining weight and distorted body image with the inability to recognize the seriousness of their significantly low body weight. Athletes in sports such as ballet, long-distance running, and martial arts are pressured to maintain lean body weights to outperform the competition.

The presence of anti-endomysial antibodies confirms the diagnosis of Celiac disease, which is the primary cause of illness in this patient. The sweat chloride test is performed with cystic fibrosis.

Eczema herpeticum (also called Kaposi varicelliform eruption) is a disseminated viral illness usually associated with lymphadenopathy.It is most often caused by Herpes Simplex type 1 or type 2. Occasionally, other viruses such as coxsackievirus A16 may cause eczema herpeticum. Affected children usually develop itchy blisters and fever after coming in contact with an affected individual who may or may not display cold sores.It is characterised by an itchy and sometimes painful cluster of blisters most commonly on the face initially. This spreads over one to several weeks resulting in further crops of blisters which can become confluent. Lymphadenopathy and fever are common in these patients.The severity varies from mild illness to life-threatening, especially in immunocompromised children or young infants. It is markedly more common in children with atopic dermatitis. It is one of the few dermatological emergencies, and oral antivirals are often indicated. Referral to an ophthalmologist may be needed if there is eyelid or eye involvement. Occasionally, superadded skin infections caused by staphylococci and streptococci can occur.

By 15 months, it’s common for many toddlers to:- say three to five words.- understand and follow simple commands.- point to one body part.- walk alone and begin to run.- climb on furniture.- make marks with a crayon.- imitate activities, such as housework.

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

Haemophilia B (also known as Christmas disease) is due to a deficiency in factor IX. Haemophilia A is due to a deficiency in factor VIII.

The percentages of body water contained in various fluid compartments add up to total body water (TBW). This water makes up a significant fraction of the human body, both by weight and by volume. Ensuring the right amount of body water is part of fluid balance, an aspect of homeostasis. The extracellular fluid (ECF) includes all fluids outside the cells. This fluid can be divided into three fluid departments: interstitial (in the tissue spaces) fluid, blood plasma and lymph, and specialised compartments called transcellular fluid. The extracellular fluid surrounds all the cells in the body and is in equilibrium with the intracellular fluid. So, its composition must remain fairly constant even though substances are passing into and out of the cells. The interstitial fluid, though called a fluid, is in a reality a gel-like composition made up of: water, proteoglycan molecules and collagen. The extracellular fluid constitutes 40% of total body water, with intracellular fluid making up the remaining 60%. It is relatively rich in glucose.

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.

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

Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene. These cases occur in people with no history of the disorder in their family.The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta).Associations include:Tall statureLearning disability (50%)Lens subluxation (usually upwards)Femoral herniaHemivertebraeCardiac problems (Aortic/mitral regurgitation, aneurysms)Joint hypermobilityArachnodactyly

Based on the patient’s presentation, he’s probably suffering from Leiner’s diseaseLeiner’s disease is a severe generalised form of seborrhoeic dermatitis. It is also associated with recurrent diarrhoea, recurrent skin and internal infections, and failure to thrive.Seborrhoeic dermatitis is a common and self-limiting condition in childhood. Lesions affect the scalp (cradle cap), and sometimes the ear, nose, and eyebrows. It is characterised by greasy yellow or yellow-brown scales.There is an association with Malassezia, and the lesions are a reaction to this yeast, rather than caused by it.It is most common in the 6-12 month age group. Simple brushing with a soft bristle brush, use of oil or emollient, and ketoconazole 2% shampoo are all treatment options.

In the first few years of life the developing sensory inputs are important. Hearing is essential for speech and language development and may be delayed when a child cannot hear. Therefore any child with a family history of hereditary deafness should be screened. From about 4-6months babies are able to laugh and babble when excited or unhappy. By the age of 9 months the child should be able to bring together groups of same sound syllables and be able to say one or two words by the 1st birthday. If a child is unable to babble by 10-12 years, it may indicate hearing impairment. By the age of 2 a child should be able to speak in 1 or 2 word phrases and often repeats phrases used by others, known as Echolalia.

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

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

Psoriasis is a chronic inflammatory skin disease that is mainly due to the interplay between keratinocytes, dermal vascular cells, and antigen-presenting cells. There are five main types of psoriasis based on the type and severity of the lesions it produces. A useful tool to determine the extent and severity of psoriasis is the Psoriasis Area and Severity Index (PASI) score, which takes into account the percentage of a specific area affected by psoriasis in combination with severity, which in turn is assessed by the presence of desquamation, induration, and erythema.

Benign neonatal sleep myoclonus (BNSM) is a disorder commonly mistaken for seizures during the new-born period. It is characterized by myoclonic lightninglike jerks of the extremities that exclusively occur during sleep| it is not correlated with epilepsy.Causes of neonatal seizures:Hypoxic-ischemic encephalopathy: Hypoxic-ischemic encephalopathy disrupts the ATP-dependent sodium-potassium pump and appears to cause excessive depolarization.Intracranial haemorrhage: occurs more frequently in premature than in term infants. Subarachnoid haemorrhage is more common in term infants. This type of haemorrhage occurs frequently and is not clinically significant. Typically, infants with subarachnoid haemorrhage appear remarkably well. Metabolic disturbances include hypoglycaemia, hypocalcaemia, and hypomagnesemia. Less frequent metabolic disorders, such as inborn errors of metabolism, are seen more commonly in infants who are older than 72 hours. Typically, they may be seen after the infant starts feeding.Intracranial infections (which should be ruled out vigorously) that are important causes of neonatal seizures include meningitis, encephalitis (including herpes encephalitis), toxoplasmosis, and cytomegalovirus (CMV) infections. The common bacterial pathogens include Escherichia coli and Streptococcus pneumoniae.Cerebral malformationsBenign neonatal seizures

The following methods are adopted for the treatment of DKA:

– Fluids: Bolus of 10 ml/kg of normal saline. Stop at three boluses to avoid precipitating cerebral oedema. The remaining deficit has to be corrected over 48 hours. Strict input/output, U&E, and pH monitoring is necessary in such patients.

– Insulin: Insulin infusion can be initiated at 0.05-0.1 unit/kg/hour. It is essential to monitor blood glucose closely, and the aim is to decrease by 2 mmol/hour.

– Potassium: Initially, it will be high, but following insulin administration, the levels drop quickly as K+ enters cells with glucose, and thus, replacement is almost always necessary.

– Acidosis: Bicarbonate is avoided unless pH is less than 7. Acidosis will get corrected with the correction of fluid and insulin deficits. The definitive treatment is directed towards correcting the underlying precipitants of DKA, e.g. sepsis, infections.

The boy had a renal transplant, for which he needs immune suppression. For the exogenous immune suppression an exogenous steroid is needed, which in this case is responsible for the primary Cushing syndrome manifesting with short stature. The administration of steroids before the physiological fusion of the growth plate can lead to premature fusion with permanent cessation of bone growth.

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

The recurrent laryngeal nerve (RLN) innervates all of the intrinsic muscles of the larynx except for the cricothyroid muscle, which is innervated by the superior laryngeal nerve (SLN).Patients with unilateral vocal fold paralysis present with postoperative hoarseness or breathiness. The presentation is often subacute. At first, the vocal fold usually remains in the paramedian position, creating a fairly normal voice. Definite vocal changes may not manifest for days to weeks. The paralyzed vocal fold atrophies, causing the voice to worsen. Other potential sequelae of unilateral vocal-fold paralysis are dysphagia and aspiration.Bilateral vocal-fold paralysis may occur after total thyroidectomy, and it usually manifests immediately after extubation. Both vocal folds remain in the paramedian position, causing partial airway obstruction. Patients with bilateral vocal-fold paralysis may present with biphasic stridor, respiratory distress, or both. On occasion, the airway is sufficient in the immediate postoperative period despite the paralyzed vocal folds. At follow-up, such patients may present with dyspnoea or stridor with exertion.

Liddle’s syndrome,  is an autosomal dominant disorder, that is characterized by early, and frequently severe, high blood pressure associated with low plasma renin activity, metabolic alkalosis, low blood potassium, and normal to low levels of aldosterone. Liddle syndrome involves abnormal kidney function, with excess reabsorption of sodium and loss of potassium from the renal tubule. Bartter Syndrome also presents with hypokalaemia, however blood pressure of these patients is usually low or normal.

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

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.

Polycythaemia is described as an abnormal increase in the red cell mass. As this influences hyper-viscosity, a peripheral venous sample of blood haematocrit can be used to determine the packed cell volume. Polycythaemia is present if the venous haematocrit is >65% or <22g/dl if converted into a haemoglobin value. Though it is the method of choice for screening, capillary blood samples obtained though heel pricks in new-born may be as much as 15% higher than venous samples and thus high values must be confirmed with a venous sample.

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

H. pylori release the enzyme urease that has the ability to split urea releasing nitrogen. This process increases the pH in the gastric antrum making the gastric pH less acidic.Helicobacter pylori:It is a spiral, microaerophilic, gram-negative bacterium. It is one of the most common causes of antral gastritis in children. Ulcers are less common in children compared with adults| however, when they occur, they are more common in the duodenum.The presence of H.pylori can be confirmed by:- Stool antigen test (preferred)- Serology- Endoscopy with biopsy and culture- Rapid urease testsH.pylori gastritis may be associated with:- Iron deficiency anaemia- Gastric malignancy Management:The treatment is with triple therapy- two antibiotics, and an antacid.Treatment failure is often attributed to a possible worldwide increase in macrolide resistance. Interestingly, children have higher antibiotic resistance compared with adults.Note:Zollinger-Ellison syndrome (ZES) causes gastrin-secreting tumours and can present as a part of multiple endocrine neoplasia type 1 (MEN1)- an autosomal dominant disorder.

The clinical scenario presented is highly suggestive of vitamin C deficiency (Scurvy).Vitamin C is found in citrus fruits, tomatoes, potatoes, Brussel sprouts, cauliflower, broccoli, cabbage and spinach. Deficiency leads to impaired collagen synthesis and disordered connective tissue. Scurvy is associated with severe malnutrition as well as drug and alcohol abuse, and those living in poverty with limited access to fruits and vegetables.Symptoms and signs include:- Follicular hyperkeratosis and perifollicular haemorrhage- Ecchymosis- Gingivitis with bleeding and receding gums- Sjogren’s syndrome- Arthralgia- Oedema- Impaired wound healing- Generalised symptoms such as weakness, malaise, anorexia and depression

Absence epilepsy is the most common type of generalized childhood epilepsies. It is mainly idiopathic, but 10-40% of the cases have a positive family history. It is characterized by frequent absence seizures and periods of unconsciousness. The hallmark of absence epilepsy on EEG is the bilaterally synchronous 2–4 Hz spike and wave discharges (SWDs). The average age of onset is around 4-8 years, being more prevalent among girls. Treatment resistance is not common.

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

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.

The incubation periods of disorders is extremely important to diagnose, treat, prevent or attenuate a disease. Chickenpox: 7-21 days. Whooping cough: 10-14 days. Hand, foot and mouth disease: 2-6 days. German measles: 14-21 days. Mumps: 14-18 days.

Crigler-Najjar syndrome is a rare genetic disorder characterized by an inability to properly convert and clear bilirubin from the body.The hallmark finding of Crigler-Najjar syndrome is a persistent yellowing of the skin, mucous membranes and whites of the eyes (jaundice).There are two forms of this disorder: Crigler-Najjar syndrome type I, characterized by a nearly complete lack of enzyme activity and severe, even life-threatening symptoms| and Crigler-Najjar syndrome type II, characterized by partial enzyme activity and milder symptoms. Both forms are inherited as autosomal recessive traits and are caused by errors or disruptions (mutations) of the UGT1A1 gene.The symptoms of Crigler-Najjar syndrome type I become apparent shortly after birth. Affected infants develop severe, persistent yellowing of the skin, mucous membranes and whites of the eyes (jaundice). These symptoms persist after the first three weeks of life.Infants are at risk for developing kernicterus, also known as bilirubin encephalopathy, within the first month of life.Crigler-Najjar syndrome type II is a milder disorder than type I. Affected infants develop jaundice, which increases during times when an infant is sick (concurrent illness), has not eaten for an extended period (prolonged fasting) or is under general anaesthesia. Some people have not been diagnosed until they are adults. Kernicterus is rare in Crigler-Najjar syndrome type II, but can occur especially when an affected individual is sick, not eating or under anaesthesia

A consultation with an ENT is required to establish the reason for the child’s drooling and stridor indicating and obstructive process. Enlarged tonsils and adenoids should be checked.

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

Topical benzoyl peroxide is used for the treatment of mild to moderate acne vulgaris. It is actually a peeling agent and it clears the pores and reduces the bacterial cell count.

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

Congenital hypothyroidism is associated with failure to thrive, macroglossia, prolonged jaundice of a new-born and constipation.

Based on the clinical scenario, the most likely underlying pathogen is the Epstein Barr virus (EBV).An Epstein Barr virus (EBV) infection most commonly results in upper respiratory tract symptoms with fever and sore throat. Lymphadenopathy is frequently palpable on examination. Splenomegaly may also occur, and for this reason, patients diagnosed with glandular fever should be advised to avoid contact sports for one month following diagnosis. The presence of petechiae on the soft palate is also associated with EBV infection. The vast majority of patients with active EBV infection will develop a widespread rash if given amoxicillin, therefore, phenoxymethylpenicillin (Penicillin V) is recommended for the treatment of a suspected bacterial throat infection to prevent this complication occurring for individuals who have EBV infection.Other options:- Coronavirus: This is one of the causes of the common cold and is frequently responsible for sore throats| however, in this case, the presenting features are more suggestive of an EBV infection.- Group A Streptococcus: Streptococci are classified into two main groups| alpha-haemolytic and beta-haemolytic. Group A Streptococcus belongs to the beta-haemolytic group. Group A streptococcal infection is a common cause of bacterial tonsillitis. It is possible that the child, in this case, had streptococcal tonsillitis and has had a drug reaction to the amoxicillin. However her age, flu-like symptoms and petechiae on her palate all point to an EBV infection and amoxicillin resulting in a rash.- Parainfluenza: Parainfluenza viruses are one of many causes of the common cold and can cause pharyngitis. They are the leading cause of viral croup.- Rhinovirus: Rhinoviruses are one of many causes of the common cold and are frequently responsible for sore throats| however, in this case, are other factors suggesting EBV infection.

Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behaviour such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of individuals with fragile X syndrome have features of autism spectrum disorder that affect communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome.Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet, and in males, enlarged testicles (macroorchidism) after puberty.

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.

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.

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

A surgeon will observe the patient and will decide which procedure he needs.

Osteochondromas, or osteocartilaginous exostoses, are the most common benign bone tumours, and tend to appear near the ends of long bones. The overgrowth can occur in any bone where cartilage forms bone, and they are capped by cartilage. They are most common in people between the ages of 10-20 years old.

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.

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

Anorexia nervosa is an eating disorder which is characterized by distorted self-image leading to abnormally decreased calorie intake. This disorder affects multiple bodily systems, including the skin, GI, and endocrine system. Due to extreme weight loss, patients with anorexia nervosa develop cold intolerance along with bluish discoloration of their fingers, nose, and ears, which is known as acrocyanosis. This phenomenon may be due to the shunting of the blood from the peripheries to the central body systems as a reaction to hypothermia. Other notable changes in the integumentary system include extreme dryness (xerosis), lanugo hairs, decubitus ulcers, and easy bruisibility.

The most likely organism is enterohemorrhagic verotoxin-producing E.coli. It usually causes haemolytic uremic syndrome.

Crohn’s disease rarely manifests in an acute manner.

Polio and giardiasis usually manifest with non-bloody diarrhoea.

Thread worms don’t always cause symptoms, but people often experience itchiness around their bottom or vagina. It can be worse at night and disturb sleep.

Cushing reflex is a physiological nervous system response to increased intracranial pressure (ICP) that results in Cushing’s triad of increased blood pressure, irregular breathing, and bradycardia. It is usually seen in the terminal stages of acute head injury and may indicate imminent brain herniation. It can also be seen after the intravenous administration of epinephrine and similar drugs.

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

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

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

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.

Eczema herpeticum is a form of Kaposi varicelliform eruption, characterized by extensive vesicular skin eruptions that arise from a pre-existing skin condition, usually atopic dermatitis. The most common pathogen is the herpes simplex virus type 1, which has a higher propensity of attacking the epidermis already damaged by atopic dermatitis. The incubation period of the illness is 5-14 days. The eruption is initially small, monomorphic, dome-shaped papulovesicles that rupture to form tiny punched-out ulcers. It is diagnosed by taking viral swabs for culture.

The boy needs re-hydration due to his full thickness burn so IV fluids is the next most appropriate step. The greatest loss of plasma occurs in the first 12 hours after burn injury. The plasma loss then slowly decreases during the second 12 hours of the post-burn phase, although extensive leakage can continue for up to three days (Ahrns, 2004). Optimal fluid replacement during this period is essential to ensure cardiac output and renal and tissue perfusion. Usually, 36 hours post-burn, capillary permeability returns to normal and fluid is drawn back into the circulation. Burns of more than 15% of surface body area in adults and of over 10% in children warrant formal resuscitation.The Parkland formula for the total fluid requirement in 24 hours is as follows:4ml x TBSA (%) x body weight (kg)|50% given in first eight hours|50% given in next 16 hours.Children receive maintenance fluid in addition, at an hourly rate of:4ml/kg for the first 10kg of body weight plus|2ml/kg for the second 10kg of body weight plus|1ml/kg for >20kg of body weight.End pointUrine – adults: 0.5–1.0 ml/kg/hour|Urine – children: 1.0–1.5ml/kg/hour.

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

Angelman Syndrome is a genetic disorder that affects the nervous system. The features of this condition include intellectual disability, a delay in developmental milestones, and movement disorders. The features occur as a result of the deletion or mutation of the maternal copy of the UBE3A gene located on Chromosome 15q. Though individuals usually inherit one copy of this gene from each parent, only the maternal gene remains active in parts of the brain. This phenomenon is known as genetic imprinting, and is also seen in Prader-Willi syndrome.

90% of patients with meconium ileus have cystic fibrosis (CF). Indeed, in 10 – 15% of cases of CF, the patient presents with meconium ileus.

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

The history is suggestive of a post-traumatic seizure which frequently occurs after moderate or severe traumatic brain injury. Although upgoing plantars can be identified in a post-ictal status, an intracranial bleed has to be excluded. A single seizure cannot be considered epilepsy

Compared to the rest of the options, Meckel’s diverticulum with ectopic gastric mucosa seems to be the most probable diagnosis, as it can lead to fresh bleeding.Fresh red bleeding can be caused by haemorrhoids, polyps or a massive GI bleed.

While the clinical scenario and the anosmic presentation of the child are highly suggestive of Kallmann’s syndrome, reduced testosterone, FSH and LH levels can confirm the diagnosis.Kallman’s syndrome is a recognised cause of delayed puberty secondary to hypogonadotropic hypogonadism. It is usually inherited as an X-linked recessive trait. Kallman’s syndrome is thought to be caused by a failure of GnRH-secreting neurons to migrate to the hypothalamus.Clinical features of Kallmann’s syndrome include:- Delayed puberty- Hypogonadism, cryptorchidism- Anosmia- Low sex hormone levels – Inappropriately low/normal LH and FSH levels- Some patients can present with associated cleft lip/palate and visual/hearing defects.

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

The most probable diagnosis for this patient is Maple syrup urine disease (MSUD).Note:- Healthy new-borns have blood sugars between 3.3 and 5 mmol/L- Neonatal hypoglycaemia is glucose < 2.2 mmol/L if measured in the first 3 days of life.- Neonatal hypoglycaemia is glucose < 2.5 mmol/L after the first 3 days of life.Causes of persistent hypoglycaemia include:- Preterm- IUGR- SGA- Hyperinsulinism due to maternal diabetes- Beckwith-Wiedemann syndrome- Hypoxia at birth- Sepsis- Cardiopulmonary disease- Inborn errors of metabolism- Hepatic enzyme deficiencies- Glycogen storage disease

Group B beta-haemolytic Streptococcus (GBS) and Escherichia coli are the most common cause of early sepsis. Group B Streptococcus (GBS), also known as Streptococcus agalactiae, is best known as a cause of postpartum infection and as the most common cause of neonatal sepsis. The GBS organism colonizes the vagina, GI tract, and the upper respiratory tract of healthy humans. GBS infection is almost always associated with underlying abnormalities. In elderly persons aged 70 years or older, GBS infection is strongly linked with congestive heart failure and being bedridden.Penicillin remains the drug of choice for group B streptococcal infection but resistance may occur.

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

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. 

A micturating cystourethrogram (MCUG) is one type of imaging test also called a voiding cystourethrogram (VCUG). The MCUG can check whether the flow of urine from the child’s bladder is being blocked, or whether it goes up the wrong way. It can help diagnose certain conditions, including vesicoureteral reflux and posterior urethral valves.

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.

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

MMR vaccine is a live vaccine. It contains measles, mumps and rubella. These vaccines should be avoided during chemotherapy and for 6 months after.

Hypogonadotropic hypogonadismIn Kallmann syndrome: impaired migration of GnRH cells and defective olfactory bulb → ↓ GnRH in hypothalamus → ↓ FSH and ↓ LH → ↓ testosterone and ↓ oestrogenIn hypothalamic and/or pituitary lesions: ↓ pituitary gonadotropins (↓ FSH and ↓ LH) → ↓ testosterone and ↓ oestrogen