The most common manifestation of Wilms tumour is an asymptomatic abdominal mass| an abdominal mass occurs in 80% of children at presentation. Abdominal pain or haematuria occurs in 25%. Urinary tract infection and varicocele are less common findings than these. Hypertension, gross haematuria, and fever are observed in 5-30% of patients. A few patients with haemorrhage into their tumour may present with hypotension, anaemia, and fever. Rarely, patients with advanced disease may present with respiratory symptoms related to lung metastases.

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

The antiretroviral agent for the side effects mentioned is most probably, efavirenz.Efavirenz is a non-nucleoside reverse transcriptase inhibitor and the most likely cause of new-onset psychiatric symptoms in someone taking HAART. In this scenario the patient had no pre-existing mental health problems, as other antiretrovirals can cause depression and suicidal ideation in those who have a past psychiatric history. Symptoms usually subside after a few weeks of treatment.Other options:- Emtricitabine is a nucleoside reverse transcriptase inhibitor and is also not known to cause psychiatric side effects. The most common side effects of Emtricitabine are rash and darkening of the palms or soles.- Lamivudine is a nucleoside reverse transcriptase inhibitor, which can cause insomnia, but does not commonly cause other psychiatric symptoms.- Rilpivirine is a non-nucleoside reverse transcriptase inhibitor, which can cause depression. However, this is more common in those with a history of mental health problems.- Tenofovir is a nucleotide reverse transcriptase inhibitor. The most common side effect of Tenofovir is gastrointestinal upset. It is not known to cause psychiatric side effects.

Bacterial meningitis (including meningococcal meningitis, Haemophilus influenzae meningitis, and staphylococcal meningitis) is a neurologic emergency that is associated with significant morbidity and mortality. Initiation of empiric antibacterial therapy is therefore essential for better outcomes. The patient appears to be suffering from meningitis caused by Staphylococcus aureus. Methicillin would be the drug of choice . It is bactericidal and unlike streptomycin and chloramphenicol it is not associated with toxicity

The most probable diagnosis for the patient would be DiGeorge syndrome due to 22q11 deletion. It causes embryonic defects of the third and fourth branchial arches. It is sporadic in 90% of cases and 10 % inherited from parents as autosomal dominant.Characterised by distinct facial features (micrognathia, cleft palate, short philtrum, and low-set ears), hypocalcaemia, mental retardation, cardiac defects (especially tetralogy of Fallot), and immune deficiencies.A useful memory aid is CATCH-22:- Cardiac defects- Abnormal facial features- Thymic aplasia/hypoplasia- Cleft palate- Hypocalcaemia/Hypoparathyroidism- 22 – Due to 22q11 deletion

Hypopigmentation is a side-effect that is more likely to be due to eczema rather than topical steroids therapy.All the options provided are potential side-effects of topical steroid therapy. They are observed when the potency of the steroid used is too high, or the amount of drug used is too much.. FTU or fingertip unit application is what is recommended, with caution, in delicate areas such as the face. Hypopigmentation can occur in eczema and is a post-inflammatory response, in contrast to the total depigmentation which is seen in vitiligo. Chronic eczema causes lichenification of skin, where the epidermis is thickened, and not skin atrophy.

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.

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.

Laxatives have been shown to be beneficial in the treatment of chronic childhood constipation. Studies have shown that polyethylene glycol, mineral oil, magnesium hydroxide, and lactulose are effective and can be used for a prolonged periods without risk.

Being anatomically situated immediately posterior to the subclavius muscle and the medial part of the clavicle, the subclavian vein is at the highest risk of injury in the above patient.As a direct tributary of the brachiocephalic vein, it’s injury poses a high risk of massive bleeding.The brachiocephalic vein rests on the first rib, below and in front of the third part of the subclavian artery, and then on scalenus anterior which separates it from the second part of the artery (posteriorly).Anatomy of the clavicle:The clavicle extends from the sternum to the acromion and helps prevent the shoulder falling forwards and downwards.

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 child requires frequent BP evaluation every 15 to 30 minutes. Normalisation of his BP should be achieved in a 48h interval. An ophthalmology assessment is indicated to check for acute injury of the blood vessels in the eye due to the elevated blood pressure.

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

The most serious side effects of IV Lorazepam include hallucinations, agitation, confusion, amnesia and muscle weakness.

Based on the clinical presentation, the pubic hair development is in Tanner stage 2.The Tanner stages for pubic hair are as follows:Stage 1 – pre-adolescentStage 2 – sparse hair that is long, slightly pigmented and downyStage 3 – hair spread over the junction of the pubes, darker and coarserStage 4 – adult-type hair, but the area covered is smaller than it is in an adult.Stage 5 – adult in quantity and type

Haematuria and abdominal swelling may indicate either polycystic kidney disease or a tumour. Because of the patient’s age, the likelihood of a tumorous growth is small, thus an ultrasound is the best choice for this case.

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

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.

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.

The Kaplan–Meier estimator, also known as the product limit estimator, is a non-parametric statistic used to estimate the survival function from lifetime data. In medical research, it is often used to measure the fraction of patients living for a certain amount of time after treatment.

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.

3-year-old milestones: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 routine- Dresses 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 sex- Names 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 sentencesCognitive (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 a pencil or crayon – Turns book pages one at a time – Builds towers of more than 6 blocks – Screws and unscrews jar lids or turns the door handleMovement/Physical Development- Climbs well – Runs easily – Pedals a tricycle (3-wheel bike) – Walks up and downstairs, one foot on each stepDoing up buttons is a skill more usually seen in 5-year-olds.

Diazepam given rectally may be helpful in treating prolonged convulsions outside and within hospital when intravenous injection is not possible. A rectal dose of 0.5 mg/kg (maximum 10 mg) of injectable diazepam, undiluted or diluted with a 50% propylene glycol solution, can stop seizures in up to 80% of children. There are few adverse reactions. Seizures in children usually cease spontaneously within 5-10 minutes and are rarely associated with significant sequelae. The chance of a seizure stopping spontaneously decreases significantly after 10-15 minutes. Similarly, the efficacy of anticonvulsant medication decreases after 10-15 minutes of fitting and the risk of adverse effects increases. Convulsive seizures lasting longer than 30 minutes constitute status epilepticus and may be complicated by cardio respiratory depression and brain injury. Diazepam or clonazepam, given intravenously, is generally the drug of choice for the emergency treatment of convulsive status epilepticus. Intravenous diazepam may be difficult to administer to the young convulsing child and, because of the need for intravenous access, is not ideal for rapid treatment in the community by non-medical carers.

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

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

The child is suffering from acute sickle cell crisis, a complication of sickle cell disease. It is characterised by a new segmental pulmonary infiltrate consistent with consolidation together with one or more new respiratory symptoms.The mainstay of treatment is oxygen support, (ventilation if required), hydration, antibiotics and analgesia.

A lumbosacral lipoma is a form of congenital spinal lipoma and can be regarded as a cutaneous marker of dysraphism. It is not a skin condition but rather represents a defect in the process of neurulation and leads to a constellation of other abnormalities. The most common other systemic abnormalities associated with midline lumbosacral lipoma include complex anorectal and urological malformations. Other mentioned conditions are benign rashes or birthmarks.

Constipation is often associated with nocturnal enuresis in children. The palpable mass is the impacted stool. The decreased appetite is common in those with constipation.

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

Turners syndrome is a chromosomal syndrome affecting the development of females. In this condition, all or part of the X chromosome gets deleted, producing the Karyotype 45 XO or 45XO/46XX. Spontaneous foetal loss is common in the first trimester, but foetuses which survive are born small for date, and may have lymphedema, and poor feeding in the neonatal period. These patients face numerous medical and developmental problems throughout their lifetimes including growth and puberty failure due to premature ovarian failure/ hypergonadotropic hypogonadism. However spontaneous puberty can be seen in up to 20% of females with Turner’s syndrome.

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

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

Cluster headaches present with unilateral severe headache that may be associated with ipsilateral cranial autonomic symptoms including| lacrimation, rhinorrhoea, ophthalmic injection, and occasionally, Horner syndrome (ipsilateral miosis, ptosis, and facial anhidrosis).

Hirsutism is the growth of excess hair in androgen dependent areas or in a male pattern. The phenomenon is found in conditions where there is abnormal androgen action. This can occur in adrenal lesions including congenital adrenal hyperplasia, and Cushing syndrome, or a failure to produce adequate female hormones such as PCOS and premature menopause. Similarly, drugs such as anabolic steroids, danazol and minoxidil can also cause hirsutism. Delayed puberty is unlikely to cause hirsutism.

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).

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.

Alpha-fetoprotein (AFP) is a plasma protein produced by the embryonic yolk sac and the fetal liver. AFP levels in serum, amniotic fluid, and urine functions as a screening test for congenital disabilities, chromosomal abnormalities, as well as some other adult occurring tumours and pathologies.Pregnant maternal serum AFP levels are elevated in:- Neural tube defects (e.g., spina bifida, anencephaly)- Omphalocele- Gastroschisis- posterior urethral valves- nephrosis- GI obstruction- teratomas

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

One of the options of Psoriasis treatment is vitamin D analogues i.e. calcipotriol. Acne is exacerbated by steroids. Erythema nodosum can be caused by various diseases and the treatment of the primary condition resolves the symptoms. Lipomas requires surgery, whereas Steven-Johnson syndrome requires use of steroids and eliminating the culprit drug, which is one of the most common causes.

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.

The chance of having appendicitis again after appendix mass is around 17% in children. While the traditional teachings by Hamilton Bailey recommend following the conservative Ochsner-Sherren regimen followed by an interval appendicectomy six weeks after the discharge of the patient, there remains a looming controversy whether to perform an interval appendicectomy or not.

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

Pellagra occurs as a result of niacin (vitamin B-3) deficiency. Niacin is required for most cellular processes. Since tryptophan in the diet can be converted to niacin in the body, both of these need to be deficient for pellagra to develop.The classical triad of symptoms is diarrhoea, dermatitis and dementia.The first sign is reddened skin with superficial scaling in areas exposed to sunlight, heat and friction. This may resemble severe sunburn then gradually subsides leaving a dusky brown-red colouration. The rash is usually symmetrical with a clear edge between affected and unaffected skin.

In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes, look the same in both males and females. The 23rd pair, the sex chromosomes, differ between males and females. Females have two copies of the X chromosome, while males have one X and one Y chromosome.

The organisms most likely to cause post-splenectomy sepsis include:- Streptococcus pneumoniae- Haemophilus influenzae- MeningococciEncapsulated organisms carry the most significant pathogenic risk following splenectomy. Hyposplenism:It may complicate certain medical conditions where splenic atrophy occurs or maybe the result of medical intervention such as splenic artery embolization and splenectomy for trauma. The diagnosis of hyposplenism is difficult, and while there may be peripheral markers of the splenectomised state (e.g. Howell-Jolly bodies), these are neither 100% sensitive or specific. The most sensitive test is a radionucleotide labelled red cell scan.It dramatically increases the risk of post-splenectomy sepsis, particularly with encapsulated organisms. Since these organisms may be opsonized, but this then goes undetected at an immunological level due to loss of the spleen. For this reason, individuals are recommended to be vaccinated and have antibiotic prophylaxis.Key recommendations:- All those with hyposplenism or prior to an elective splenectomy should receive pneumococcal, Haemophilus type b and meningococcal type C vaccines. These should be administered two weeks before or two weeks following splenectomy. The vaccine schedule for meningococcal disease primarily consists of a dose of Men C and Hib at two weeks and then a dose of the MenACWY vaccine one month later. Those aged under two may require a booster at two years. A dose of pneumococcal polyvalent polysaccharide vaccine (PPV) is given at two weeks. A conjugate vaccine (PCV) is offered to young children. The PCV is more immunogenic but covers fewer serotypes. Boosting PPV is either guided by serological measurements (where available) or by routine boosting doses at five-yearly intervals.Annual influenza vaccination is recommended in all cases- Antibiotic prophylaxis is offered to all. The risk of post-splenectomy sepsis is highest immediately following splenectomy. Individuals with an inadequate response to pneumococcal vaccination are another high-risk group. High-risk individuals should be counselled to take penicillin or macrolide prophylaxis. Those at low risk may choose to discontinue therapy. All patients should be advised about taking antibiotics early in the case of intercurrent infections.- Asplenic individuals travelling to malaria-endemic areas are at high risk and should have both pharmacological and mechanical protection.

HbA1c stands for glycated haemoglobin. In patients with haemolytic diseases associated with a shortened RBC survival, HbA1c levels can be unusually low despite controlled diabetes mellitus.These haemolytic diseases can include glucose-6-phosphate dehydrogenase deficiency and sickle cell anaemia.HbA1c:It is a measure of non-enzymatic glycation which occurs due to haemoglobin’s exposure to plasma glucose. As plasma glucose increases so does HbA1c.The level of HbA1c quantitively assesses the control of diabetes mellitus over the last 120 days (as this is the life span of a red blood cell).Haemoglobin type A is separated on cation exchange chromatographyOther subsections include HbA1O, HbA1a, HbA1b.According to the updated NICE recommendations (2015):The target level of HbA1c in children with T1DM is 48 mmol/mol (6.5%) or lower. It is monitored every three months. Better control is associated with fewer long term complications

Hypogonadism is found to be a feature in gigantism also known as acromegaly, a condition caused by growth hormone abnormalities. The most common cause of gigantism is a pituitary adenoma. Hypogonadism exists among other endocrinopathies found in gigantism. Other causes of hypogonadism include Kleinfelter’s syndrome, which is characterized by premature testicular failure. The other options listed, primary hypothyroidism, teratoma, tuberous sclerosis and hepatoblastoma are all associated with precocious puberty.

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.

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.

Amoxicillin has high efficacy against haemophilus influenza and streptococcus pneumonia, the most common organisms of otitis media. It is an oral drug with high bioavailability.

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

Epiglottitis is characterized by the abrupt onset of severe symptoms. Without airway control and medical management, symptoms may rapidly progress to respiratory obstruction and death in a matter of hours.Usually, no prodromal symptoms occur in children. Fever is usually the first symptom, and temperatures often reach 40°C. Acute epiglottitis may result in sudden, complete upper airway obstruction. Classic signs in children are four D’s: drooling, dyspnoea, dysphagia, and dysphonia.

Compared to parametric tests, non parametric tests are seen to be less powerful as they often contend with fewer assumptions, and may use less information from the data. Sample sizes can be smaller. The samples do not have to follow a normal distribution as in parametric tests, and data may be ordinal, ranked or contain outliers that cannot be removed. Therefore nonparametric tests are well suited for these instances and do not need to be used as a last resort. They are not any more complex than parametric tests.

At the age of 6 months, children can begin to be weaned off breastmilk and formula feeds. One healthy and inexpensive way to do this is through infant led weaning as opposed to the conventional spoon feeding method. Children are able to enjoy a variety of soft finger foods even before they grow teeth, so all food does not need to be pureed or sweet. Children should however not be given cow’s milk until the age of 1 year.

Pierre Robin sequence is a condition present at birth, in which the infant has micrognathia, a tongue that is placed further back than normal (glossoptosis), and cleft palate. This combination of features can lead to difficulty breathing and problems with eating early in life. Pierre Robin sequence may occur isolated or be associated with a variety of other signs and symptoms (described as syndromic). The exact causes of Pierre Robin syndrome are unknown. The most common otic anomaly is otitis media, occurring 80% of the time, followed by auricular anomalies in 75% of cases. Hearing loss, mostly conductive, occurs in 60% of patients, while external auditory canal atresia occurs in only 5% of patients.

Meconium aspiration syndrome (MAS) refers to breathing problems that a new-born baby may have when: – There are no other causes, and- The baby has passed meconium (stool) into the amniotic fluid during labour or deliveryThe most recent guidelines are as follows:- If the baby is vigorous (defined as having a normal respiratory effort and normal muscle tone), the baby may stay with the mother to receive the initial steps of new-born care. A bulb syringe can be used to gently clear secretions from the nose and mouth.- If the baby is not vigorous (defined as having a depressed respiratory effort or poor muscle tone), place the baby on a radiant warmer, clear the secretions with a bulb syringe, and proceed with the normal steps of new-born resuscitation (i.e., warming, repositioning the head, drying, and stimulating). If, after these initial steps are taken, the baby is still not breathing or the heart rate is below 100 beats per minute (bpm), administer positive pressure ventilation.Resuscitation should follow the same principles for infants with meconium-stained fluid as for those with clear fluidContinued care in the neonatal intensive care unit (NICU):Maintain an optimal thermal environment to minimize oxygen consumption.Minimal handling is essential because these infants are easily agitated. Agitation can increase pulmonary hypertension and right-to-left shunting, leading to additional hypoxia and acidosis. Sedation may be necessary to reduce agitation.An umbilical artery catheter should be inserted to monitor blood pH and blood gases without agitating the infant.Continue respiratory care includes oxygen therapy via hood or positive pressure, and it is crucial in maintaining adequate arterial oxygenation. Mechanical ventilation is required by approximately 30% of infants with MAS. Make concerted efforts to minimize the mean airway pressure and to use as short an inspiratory time as possible. Oxygen saturations should be maintained at 90-95%.Surfactant therapy is commonly used to replace displaced or inactivated surfactant and as a detergent to remove meconium. Although surfactant use does not appear to affect mortality rates, it may reduce the severity of disease, progression to extracorporeal membrane oxygenation (ECMO) utilization, and decrease the length of hospital stay.

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.

Cases of neonatal infant ambiguous genitalia can be a great source of psychological stress for families. One of the most important next steps in managing the case is reassuring the parents that the best care will be given to the baby and then informing them about the investigations that will need to be performed before a sex can be assigned. The sex should not be guessed just by examination nor assigned by karyotyping. Thorough investigations must be completed with the help of endocrinologists for the best outcome.

Non Epileptic attack disorder, also known as psychogenic non epileptic seizures, is a condition characterised by episodes of abnormal movement and behaviours that resemble seizures , but are not caused by electrical activity changes in the brain. It is believed that the disorder is caused by the brain’s response to overwhelming or stressful situations. In Jamila’s case, triggering conditions for her episodes may have been the absence of her mother, and the stress of her upcoming examinations. A diagnosis of generalised epilepsy is unlikely because this would require abnormal movement in all 4 limbs during an episode and a longer period of semi consciousness after. Cataplexy can also be ruled out as it does not involve a loss of consciousness which we see in Jamila’s case. Vasovagal syncope does not correspond with the history as there was no evidence of simultaneous collapse and responsiveness coupled with colour change and near spontaneous recovery when supine. A complex partial seizure may be possible in Jamila’s case, however the history of long duration, her eyes being tightly shut and the differences in presentation between the two episodes makes it less likely.

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.

3-year-old milestonesSocial and EmotionalCopies 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/CommunicationFollows 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 a pencil or crayon Turns book pages one at a time Builds towers of more than 6 blocks Screws and unscrews jar lids or turns the door handle Movement/Physical DevelopmentClimbs well Runs easily Pedals a tricycle (3-wheel bike) Walks up and downstairs one foot on each step

In an acute and severe asthma attack the child cannot complete sentences in one breath because they are too breathless. The O2 saturation is less than 92% and PEF is between 33-50% best or predicted. In children that are 2-5 years old, HR is more than 140 bpm and more than 125 bpm in those older than 5 years old. The RR in children between 2-5 years old is more than 40/min, and more than 30/min in those older than 5 years old.

Autism is a neurodevelopmental disorder characterized by difficulties with social interaction, language delays, and some repetitive behaviours. Autism may be associated with some dysmorphic facial features, including macrocephaly, which denotes an abnormally large head. Macrocephaly is usually most observable during early childhood. The other features mentioned are not found to be associated with autism.

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.

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

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.

Vesicoureteric reflex (VUR) is described as the retrograde flow of urine from the bladder into the ureter due to an incompetent uterovesical junction. In primary VUR the lower urinary tract functions normally, while secondary VUR is associated with a poorly functioning lower urinary tract. The incidence of VUR is highest in new-born girls. They can present with hydronephrosis, or urinary tract infections.

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.

4-year-old milestonesSocial and EmotionalEnjoys doing new things Plays “Mom” and “Dad” Is more and more creative with make-believe play Would rather play with other children than by himself Cooperates with other children Often can’t tell what’s real and what’s make-believe Talks about what she likes and what she is interested in Language/CommunicationKnows some basic rules of grammar, such as correctly using “he” and “she” Sings a song or says a poem from memory such as the “Itsy Bitsy Spider” or the “Wheels on the Bus” Tells stories Can say first and last nameCognitive (learning, thinking, problem-solving)Names some colours and some numbers Understands the idea of counting Starts to understand time Remembers parts of a story Understands the idea of “same” and “different” Draws a person with 2 to 4 body parts Uses scissors Starts to copy some capital letters Plays board or card games Tells you what he thinks is going to happen next in a book Movement/Physical DevelopmentHops and stands on one foot up to 2 seconds Catches a bounced ball most of the time Pours, cuts with supervision, and mashes own food

The most probable cause for the patient’s presenting symptoms is encephalitis secondary to measles infection.Encephalitis:Encephalitis occurs in 1 per 1000 measles cases. It usually presents within 1–14 days of the rash, usually day 5. It may present with fever, headache, vomiting, stiff neck, meningeal irritation, drowsiness, seizures, reduced consciousness| 15% will have neurological sequelae| 10% mortality.Other options:- Acute disseminated encephalomyelitis occurs in 1 per 1000 measles cases. It is thought to be a postinfectious immune response. Clinical manifestations include fever, headache, neck stiffness, seizures and mental status changes. It could fit this presentation although it tends to present in the recovery phase of measles infection, typically two weeks after the exanthem. In contrast, encephalitis tends to occur within a few days of the rash.- The history is not that of a typical febrile seizure as it lasted >15 minutes. He has also not recovered consciousness at 4 hours. The diazepam should have been eliminated within 4 hours and so should no longer be contributing to his reduced level of consciousness. Also, the history states the recent diagnosis of measles, and so complications of measles should be considered.- Intracranial bleed secondary to thrombocytopenia: Measles is not known to cause thrombocytopenia.- Subacute sclerosing panencephalitis (also known as Dawson’s encephalitis): This is an extremely rare complication of measles. It is a progressive degenerative disease of the central nervous system that occurs 7–10 years after a measles infection. The treatment for SSPE is mainly intraventricular interferon therapy through an Ommaya reservoir. The prognosis is poor, and it is usually fatal.

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.

Hyposplenism is associated with thrombocytosis. Other features of hyposplenism are: – Howell-Jolly bodies and acanthocytosis, occurring secondary to haemolysis.- Pappenheimer bodies: These are granular deposits of iron found within the RBCs.- Lymphocytosis and monocytosis.Causes for hyposplenism include:- Congenital asplenia- Iatrogenic splenectomy: Following trauma or treatment for ITP, thalassemia or spherocytosis).- Autosplenectomy: Secondary to sickle cell anaemia, coeliac disease, dermatitis herpetiformis, essential thrombocythemia or splenic arterial thrombosis).

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.

Howell-Jolly bodies are often seen in post-splenectomy cases, together with Pappenheimer bodies, target cells and irregular contracted red blood cells. The loss of splenic tissue results in the inability to readily remove immature or abnormal red blood cells from the circulation.

Based on the presentation, the child most probably is suffering from a refractive error.Astigmatism, myopia and high hypermetropia could all cause these symptoms. This child has difficulty in using vision for finer tasks such as reading. Mild to moderate refractive error would not impair the child’s ability to play or even watch television as for the child in question. Note: Refractive error is the most common treatable cause of reduced vision in children all over the world! Other options:- A congenital cataract is rare and retinal dystrophy is even rarer. – Amblyopia would suggest poor vision in only one eye, something that might not cause symptoms in this age group. – Parents or teachers would have probably noticed squint if it was present.

Certain lesions present on x-ray are suggestive of child abuse including rib, humerus and skull fractures. It is the doctors responsibility to follow up on these cases to determine whether domestic abuse has occurred.

The most probable cause for the patient’s presentation would be intra-abdominal adhesions, and the most appropriate management for this patient would be nasogastric decompression and intravenous fluids.Malrotation typically presents in the first month of life with bilious vomiting. There is a lifetime risk of intra-abdominal adhesions. This presents with bilious vomiting and dilated bowel loops on plain abdominal film. 2/3 of adhesional obstructions resolve by conservative management with nasogastric decompression and intravenous fluids. If this fails to resolve after 24-48 hours or if there are signs of peritonism, a laparotomy is indicated.Other options:- Recurrent volvulus, urgent laparotomy required: The child is now 8-years-old and recurrent volvulus is unlikely as bowel should be fixed by intra-abdominal adhesions.- Intra-abdominal adhesions, surgery for division of intra-abdominal adhesions: Although surgery may be required, the majority of adhesional obstructive cases respond to conservative management.- Gastroenteritis with incompetent pylorus, intravenous fluids: While it is true that patients with malrotation can have bilious vomiting in gastroenteritis, the abdominal X-ray is suggestive of obstruction.- Likely sepsis with bilious vomiting, intravenous fluids and antibiotics: While a septic ileus can give bilious vomiting, this patient has no inflammatory markers suggestive of sepsis.

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

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

The most probable diagnosis for the clinical scenario provided is coarctation of the aorta. It contributes to about 4% of all congenital heart disease and is more prominent in males than females.It is associated with trisomy 13 and 18, Turner syndrome, valproate toxicity as well as ventricular septal defects, persistent ductus arteriosus, mitral valve abnormalities and berry aneurysms of the circle of Willis. Other associated cardiac abnormalities include a bicuspid aortic valve (50%), mitral valve disease, aortic regurgitation (20%) and subaortic stenosis. Ninety-eight per cent of coarctations occur at the level of the pulmonary artery after the subclavian artery. It is for this reason that, on observation, the proximal blood pressure varies compared with the distal blood pressure. The blood pressure in the right arm is often higher than that in the left arm. Clinically, these children present with hypertension, prominent carotid pulses, radio-femoral delay, left ventricular hypertrophy and an ejection systolic murmur maximum over the posterior left interscapular area. An apical click over the aortic valve may be heard. Coarctation of the aorta may be simple (post-ductal), or complex (pre-ductal or with a septal defect), and may be associated with aortic stenosis, transposition of the great arteries or a bicuspid aortic valve. The ECG and chest radiograph may be normal. However, as the child enters the first decade, evidence of cardiomegaly, congestive heart failure, post-stenotic dilatation with a dilated subclavian artery and rib notching may be noticed. The ECG may show right ventricular hypertrophy, left ventricular hypertrophy in infancy and right axis deviation. Complications of coarctation of the aorta include left ventricular failure, cerebral haemorrhage, aortic dissection, renal vascular stenosis and infective endocarditis. This condition may result in death due to an aortic aneurysm or rupture in the third or fourth decade of life. It may also cause premature ischaemic heart disease as a result of hypertension. If left untreated, 20% of individuals die before 20 years of age and 80% before 50 years of age. Treatment options include surgical balloon dilatation or the grafting of a subclavian flap, and should surgical correction not normalise the blood pressure, further medical management is required.

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

Advancing paternal age has been linked with lower quality sperm leading to a reduction in overall fertility and an increase in the occurrence of various medical disorders in the fetus. Advanced paternal age has been implicated as a risk factor for diseases like retinoblastoma, achondroplasia, autism spectrum disorders, schizophrenia, and acute lymphoblastic leukaemia. Down’s syndrome is mostly considered a consequence of advanced maternal age, but advanced paternal age has also been implicated as a risk factor.

Oesophageal atresia refers to a congenitally interrupted oesophagus. One or more fistulae may be present between the malformed oesophagus and the trachea. The lack of oesophageal patency prevents swallowing. In addition to preventing normal feeding, this problem may cause infants to aspirate and literally drown in their own saliva, which quickly overflows the upper pouch of the obstructed oesophagus. If a tracheoesophageal fistula (TEF) is present, fluid (either saliva from above or gastric secretions from below) may flow directly into the tracheobronchial tree.The complete absence of gas in the GI tract denotes the absence of a distal tracheoesophageal fistula (TEF)| however, distal fistulae simply occluded by mucous plugs have been rarely reported.If no distal TEF is present, a gastrostomy may be created. In such cases, the stomach is small, and laparotomy is required. In all cases of oesophageal atresia in which a gastrostomy is created, care should be taken to place it near the lesser curvature to avoid damaging the greater curvature, which can be used in the formation of an oesophageal substitute. When a baby is ventilated with high pressures, the gastrostomy may offer a route of decreased resistance, causing the ventilation gases to flow through the distal fistula and out the gastrostomy site. This condition may complicate the use of ventilation.

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

The development of the kidney proceeds through a series of successive phases, each marked by the development of a more advanced kidney: the pronephros, mesonephros, and metanephros. The development of the pronephric duct proceeds in a cranial-to-caudal direction. As it elongates caudally, the pronephric duct induces nearby intermediate mesoderm in the thoracolumbar area to become epithelial tubules called mesonephric tubules. Each mesonephric tubule receives a blood supply from a branch of the aorta, ending in a capillary tuft analogous to the glomerulus of the definitive nephron. The mesonephric tubule forms a capsule around the capillary tuft, allowing for filtration of blood. This filtrate flows through the mesonephric tubule and is drained into the continuation of the pronephric duct, now called the mesonephric duct or Wolffian duct. The nephrotomes of the pronephros degenerate while the mesonephric duct extends towards the most caudal end of the embryo, ultimately attaching to the cloaca.

There are two lateral rotators of the arm, the infraspinatus and the teres minor muscles. The infraspinatus muscle receives nerve supply from C5 and C6 via the suprascapular nerve, whilst the teres minor is supplied by C5 via the axillary nerve.

Treatment of depression is an important component of maternal and neonatal health. The use of SSRIs and antidepressants in the first trimester are unlikely to carry any congenital risks. However the use of the antidepressants closer to delivery may result in some respiratory, motor, gastrointestinal and central nervous system problems, with the most concerning of these being persistent pulmonary hypertension of the new-born. Other conditions such as cleft palate, jaundice, neural tube defects or floppy baby syndrome have not been shown to occur with SSRI use.

The most probable diagnosis for this patient would be Edward syndrome.Edward syndrome results from trisomy 18. It is the second most common syndrome after Down syndrome. 60% of cases die within 48 hours, and 90% within the first year due to apnoeas. Cardiovascular abnormalities include atrial septal defect, ventricular septal defect and a persistent ductus arteriosus. There is no association with exophthalmos, but it may occur. Right choroid plexus cysts are found on coronal imaging, and 40–70% at post mortem are shown to have multiple large bilateral choroid plexus cysts (>10 mm). These may not become pathological but usually trigger an anomaly scan. Around 1% of cases may present with only a cyst, but 4% may present with other abnormalities.Other options:- Children with the velocardiofacial syndrome have a classic facial appearance with hypertelorism, a tubular nose, a cleft lip/palate abnormality and cardiac anomalies. – Children with Patau syndrome usually present with midline defects and are less likely to have rocker-bottom feet. – Children with Treacher Collins syndrome present with abnormalities of the branchial arches and pharyngeal pouches.

The external aspect of the tympanic membrane is lined by stratified squamous epithelium. Clinical correlation: Following middle ear infections, this type of epithelium can migrate into the middle ear through a perforated tympanic membrane.The ear is composed of three anatomically distinct regions: – External ear: Auricle is composed of elastic cartilage covered by skin. The lobule has no cartilage and contains fat and fibrous tissue. External auditory meatus is variable in length, measuring approximately 2.5cm long in fully grown children. Lateral third of the external auditory meatus is cartilaginous, and the medial two-thirds is bony. The greater auricular nerve innervates the region. The auriculotemporal branch of the trigeminal nerve supplies most of the external auditory meatus and the lateral surface of the auricle. – Middle ear: It is the space between the tympanic membrane and cochlea. The aditus leads to the mastoid air cells is the route through which middle ear infections may cause mastoiditis. Anteriorly the eustachian tube connects the middle ear to the nasopharynx. The tympanic membrane consists of an outer layer of stratified squamous epithelium, a middle layer of fibrous tissue and an inner layer of mucous membrane continuous with the middle ear. The chorda tympani nerve passes on the medial side of the pars flaccida. The glossopharyngeal nerve and pain innervate the middle ear. Thus, pain may radiate to the middle ear following tonsillectomy. – Ossicles:Malleus attaches to the tympanic membrane (the Umbo). Malleus articulates with the incus (synovial joint). Incus attaches to stapes (another synovial joint). – Internal ear:It consists of the cochlea, semicircular canals, and vestibule. Organ of Corti is the sense organ of hearing and is located on the inside of the cochlear duct on the basilar membrane. Vestibule accommodates the utricle and the saccule. These structures contain endolymph and are surrounded by perilymph within the vestibule. The semicircular canals lie at various angles to the petrous temporal bone. All share a common opening into the vestibule.

The next step in the management of this patient is starting a normal saline fluid bolus, following which we should send samples for blood culture, lactate and C-reactive protein. The patient is probably a case of anorexia nervosa (AN).Note:Children with AN are at higher risk of developing infections, and this needs to be considered in this case. Patients with AN may not respond in the usual fashion to sepsis as they may not mount a fever in response to infection. Hypoglycaemia (especially when severe or persistent despite correction) should raise the alarm for an infection as should tachycardia and cool peripheries. Children with severe AN are more likely to be bradycardic. Therefore, a tachycardia should cause the clinician to consider that another process is going on.Other options:- Correcting electrolyte abnormalities is, of course, very important. However, while these are awaited, one needs to consider that this patient is septic and managed accordingly. Children with anorexia nervosa (AN) may have a whole host of electrolyte abnormalities, some of which can be treated with oral or nutritional supplementation although sometimes intravenous correction is required. Electrolytes need to be checked frequently during admission because of the risk of refeeding syndrome, and dietetic input is required to advise on appropriate starting intake.- While maintenance fluids like dextrose are likely to be needed in this case, consideration needs to be given to the underlying cause of the hypoglycaemia. As the sugar has come up following a glucose bolus, a 10% dextrose infusion would be excessive.- An ECG should form a part of any assessment of a child with AN. In this case, it would not be the first thing| however, as part of the acute management of this child, cardiac monitoring should be commenced. One would usually expect a child with AN to be bradycardic so a tachycardia should raise suspicion that another process is going on.- Dietary input will be vital for this child’s ongoing management. However, their acute issues take precedence in this case. Nevertheless, a dietician should be informed and involved from an early stage.

Adrenal insufficiency is a serious medical condition that leads to inadequate secretion of corticosteroids. The consequences of this deficiency are numerous electrolyte and acid-base imbalances, which include hyponatremia, hyperkalaemia, hypercalcemia, hypoglycaemia, metabolic alkalosis, and dehydration.

Answer: Transposition of the great arteriesTransposition of the great arteries (TGA) is the most common cyanotic congenital heart lesion that presents in neonates. The hallmark of transposition of the great arteries is ventriculoarterial discordance, in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.Infants with transposition of the great arteries (TGA) are usually born at term, with cyanosis apparent within hours of birth.The clinical course and manifestations depend on the extent of intercirculatory mixing and the presence of associated anatomic lesions. Note the following:Transposition of the great arteries with intact ventricular septum: Prominent and progressive cyanosis within the first 24 hours of life is the usual finding in infants if no significant mixing at the atrial level is evident.Transposition of the great arteries with large ventricular septal defect: Infants may not initially manifest symptoms of heart disease, although mild cyanosis (particularly when crying) is often noted. Signs of congestive heart failure (tachypnoea, tachycardia, diaphoresis, and failure to gain weight) may become evident over the first 3-6 weeks as pulmonary blood flow increases.Transposition of the great arteries with ventricular septal defect and left ventricular outflow tract obstruction: Infants often present with extreme cyanosis at birth, proportional to the degree of left ventricular (pulmonary) outflow tract obstruction. The clinical history may be similar to that of an infant with tetralogy of Fallot.Transposition of the great arteries with ventricular septal defect and pulmonary vascular obstructive disease: Progressively advancing pulmonary vascular obstructive disease can prevent this rare subgroup of patients from developing symptoms of congestive heart failure, despite a large ventricular septal defect. Most often, patients present with progressive cyanosis, despite an early successful palliative procedure.

Congenital cytomegalovirus infection causes: jaundice, hepatosplenomegaly, petechia, microcephaly, hearing loss and seizures.

Cataracts in infants are most commonly identified by an abnormal red reflex. Due to the high risk of amblyopia in unilateral cataracts, prompt referral to a paediatric ophthalmologist is indicated. Bilateral cataracts may occur in association with several syndromes or diseases, and these children require evaluation for these systemic disorders.Retinoblastoma is rare, but it is the most common primary intraocular tumour in children. About 80% of cases are diagnosed before age 4, with a median age at diagnosis of 2 years. It most frequently presents due to an abnormal red reflex. It is one of the few life-threatening disorders encountered in paediatric ophthalmology. Intraocular retinoblastoma is very treatable, but the mortality for metastatic disease is high. Identification of tumours before systemic spread is critical. Most children with large unilateral tumours will require enucleation (surgical removal of the eye), but the eye and vision may sometimes be preserved if the tumours are identified when they are small.

Keratosis pilaris most often affects the outer aspect of both upper arms. It may also occur on the thighs, buttocks and sides of the cheeks, and less often on the forearms and upper back. The distribution is symmetrical.The scaly spots may appear skin coloured, red (keratosis pilaris rubra) or brown (hyperpigmented keratosis pilaris). They are not itchy or sore.Macules are flat, nonpalpable lesions usually < 10 mm in diameter.Examples include freckles, flat moles, tattoos, and port-wine stains, and the rashes of rickettsial infections, rubella, measles (can also have papules and plaques), and some allergic drug eruptions.Papules are elevated lesions usually < 10 mm in diameter that can be felt or palpated. Examples include nevi, warts, lichen planus, insect bites, seborrheic keratoses, actinic keratoses, some lesions of acne, and skin cancers. Plaques are palpable lesions > 10 mm in diameter that are elevated or depressed compared to the skin surface. Plaques may be flat topped or rounded. Lesions of psoriasis and granuloma annulare commonly form plaques.Nodules are firm papules or lesions that extend into the dermis or subcutaneous tissue. Examples include cysts, lipomas, and fibromas.Vesicles are small, clear, fluid-filled blisters < 10 mm in diameter. Vesicles are characteristic of herpes infections, acute allergic contact dermatitis, and some autoimmune blistering disorders (e.g., dermatitis herpetiformis).Bullae are clear fluid-filled blisters > 10 mm in diameter. These may be caused by burns, bites, irritant contact dermatitis or allergic contact dermatitis, and drug reactions. Classic autoimmune bullous diseases include pemphigus vulgaris and bullous pemphigoid. Bullae also may occur in inherited disorders of skin fragility.

The study described in the question is a ‘cohort’ study.Other options:A prospective observational study – When groups are classified according to one or more factors at a given time and followed forward to determine outcomes (usually some health status)- Although there is in one sense a control group (those who do not develop the health problem), this is not generally called a ‘controlled’ trial. – An ecological study would look at outcomes in different groups (countries or regions usually) who follow different practices.

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

Von Hippel-Lindau syndrome is a genetic disorder inherited in autosomal dominant fashion. It is caused by the mutations of the VHL gene located on chromosome 3. The syndrome is characterized by the creation of multiple benign and malignant tumours involving various bodily systems along with the formation of numerous visceral cysts, including the renal and epididymal cysts. Down’s syndrome is associated with renal cysts, but it does not follow the autosomal dominant mode of inheritance, rather it is caused by non-disjunction of chromosome 21 during meiosis. Exomphalos is a defect of the medial abdominal wall leading to abnormal protrusion of abdominal viscera through it. It is not associated with renal cysts. Turner’s syndrome may be associated with renal cysts formation, but it is not transmitted in an autosomal dominant fashion. Polycystic kidney disease of childhood follows an autosomal recessive pattern of transmission.

The most probable diagnosis for this patient is bilateral retractile testes. This a normal phenomenon in some pre-pubertal boys. Rationale:Testicular descent can continue until about 3-months of age. The pre-pubertal testis is small enough that with activation of the cremasteric reflex, they can enter the inguinal canal. This in itself is a normal finding providing the testis can be brought into the scrotum without tension and does not require surgical correction. With time the testis will lie within the scrotum. Orchidopexy for true undescended testis can be performed from 6-months of age. It is also warranted if the testes remain undescended or intra-abdominally leading to infertility.Other options:- An ascending testis is one, typically, following hernia or orchidopexy surgery that was in the testis but with time is within the inguinal canal and cannot be brought into the scrotum. Orchidopexy is required for this.- No surgery is required as when the testis enlarges with puberty it will remain within the scrotum.- The testes can be brought into the scrotum. Therefore they are not undescended.- The testes are retractile not ascending| ascending testis cannot be brought into the scrotum and would require orchidopexy.

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