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.

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

Eight percentage of infantile haemangiomas are focal and solitary. Sixty percent of cutaneous haemangiomas occur on the head and neck, 25% on the trunk, and 15% on the extremities. Haemangiomas also can occur in extracutaneous sites, including the liver, gastrointestinal tract, larynx, CNS, pancreas, gall bladder, thymus, spleen, lymph nodes, lung, urinary bladder, and adrenal glands.Guidelines on the management of infantile haemangioma were released in December 2018 by the American Academy of Paediatrics stating that:Imaging is not necessary unless the diagnosis is uncertain, there are five or more cutaneous infantile haemangiomas present, or there is suspicion of anatomic abnormalities.

Among the given options, Di-George syndrome is not associated with adrenal gland disorders.Di-George syndrome is characterised by distinct facial features (micrognathia, cleft palate, short philtrum, and low-set ears), hypocalcaemia, mental retardation, cardiac defects (especially tetralogy of Fallot), and immune deficiencies.A useful memory aid is CATCH-22:- Cardiac defects- Abnormal facial features- Thymic aplasia/hypoplasia- Cleft palate- Hypocalcaemia/Hypoparathyroidism- 22 – Due to 22q11 deletionOther options:- Addison’s disease is a result of adrenal hypofunction and may present with collapse secondary to a salt-losing crisis.- Congenital adrenal hyperplasia: CAH is caused by the deficiency of an enzyme (classically 21-hydroxylase deficiency) in the biosynthetic pathway in the adrenal cortex, leading to insufficient production of cortisol and aldosterone, and a build-up of 17-hydroxyprogesterone.- Cushing’s syndrome is a syndrome of cortisol excess. An adrenal tumour is a primary cause.- Pheochromocytoma is a catecholamine releasing tumour of the adrenal gland/s.

Precocious puberty is the development of secondary sexual characteristics before the age of 8 in females, and 9 in males. The first sign of early puberty in females is breast enlargement, followed by the appearance of pubic and axillary hair, and finally menarche, 2-3 years after the onset of thelarche. Precocious puberty is caused by the premature activation of the hypothalamic-pituitary-gonadal axis where FSH and LH levels are raised. Less common is the gonadotrophin independent form, which is due to excess sex hormones, but low FSH and LH levels.

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

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

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

Gilbert’s syndrome is an autosomal recessive condition that results from defective bilirubin conjugation due to a deficiency of UDP glucuronyl transferase – 1. The prevalence is approximately 1-2% in the general population.The clinical presentation of Gilbert’s syndrome include:- Unconjugated hyperbilinaemia- Jaundice can occur during an intercurrent illnessManagement:Blood investigations usually reveal a rise in bilirubin following prolonged fasting or intravenous nicotinic acid.No treatment required for these patients.Other options:- CYP2C9 deficiency causes reduced warfarin metabolism, and subsequent enhanced drug effects. – Pancreatic disease, cholestasis, excessive alcohol consumption and certain drugs are common causes of raised GGT levels- Defective hepatocyte excretion of conjugated bilirubin is related to the pathophysiology of Dubin-Johnson syndrome- Reduced CYP2C19 levels can lead to the disordered metabolism of clopidogrel and other drugs such as proton-pump inhibitors, anticonvulsants and sedatives.

Coeliac disease is associated with the following conditions:- Dermatitis herpetiformis- Autoimmune disorders (e.g. thyroid disease, pernicious anaemia, diabetes)- IgA deficiency- Small-bowel malignancy, particularly lymphoma, if the gluten-free diet is not followed.Serology testing: The IgA tissue transglutaminase antibody is the most sensitive and specific, compared with the anti-endomysial antibody. However, false negatives will occur in children who are IgA-deficient, and IgA levels should be taken at the same time. Other options:Distal obstruction syndrome, meconium ileus, pancreatitis and rectal prolapse are all gastrointestinal manifestations of cystic fibrosis.

Burkitt lymphoma is associated with the c-myc gene translocation, usually t(8|14). Burkitt lymphoma is a rare high-grade non-Hodgkin lymphoma endemic to west Africa and the mosquito belt. It has a close association with the contraction of Epstein-Barr virus (EBV). Burkitt lymphoma often presents with symmetrical painless lymphadenopathy, systemic B symptoms (fever, sweats, and weight loss), central nervous system involvement, and bone marrow infiltration. Classically in the textbooks, the patient also develops a large jaw tumour.Other aforementioned options are ruled out because:1. t(9|22)—Chronic myeloid leukaemia2. t(15|17)—Acute promyelocytic leukaemia3. t(14|18)—Follicular Lymphoma4. t(11|14)—Mantle Cell Lymphoma

Epilepsy is a common paediatric neurologic disorder characterized by seizures of varying frequency and intensity. There are many childhood or infantile epilepsy syndromes that can be categorized as benign epilepsy syndromes as the child suffering from these usually outgrows them after reaching a certain age, and they do not lead to significant cognitive or physical impairment. Some of these may not need any treatment. Such benign epilepsy syndromes include benign rolandic epilepsy, Panayiotopoulos syndrome, Gastaut type-idiopathic childhood occipital epilepsy, and idiopathic photosensitive occipital lobe epilepsy. West syndrome, also called infantile spasms, is a serious infantile epileptic encephalopathy, characterized by multiple clusters of myoclonic spasms, and regression of the previous normally attained milestones. It is associated with severe cognitive and physical impairment, often leading to life long disability.

Anorexia nervosa is a serious, psychiatric eating disorder characterized by distorted self-image due to which abnormal eating behaviours are adopted. This disorder affects multiple bodily systems, including the gastrointestinal system. The GI manifestations of anorexia are enlarged salivary glands due to purging behaviour, gastritis, gastroparesis, acute gastric dilatation, superior mesenteric artery syndrome, elevated liver transaminases, which cause hepatocyte apoptosis leading to cirrhosis, and steatosis leading to fatty liver. Hepatosplenomegaly is not a recognized complication of anorexia nervosa.

Presentation can vary by individual. Early stages are often characterized by malaise, fatigue, and lethargy. One to 3 months of inadequate intake can lead to anaemia, myalgia, bone pain, easy bruising (Figure 3), swelling, petechiae, perifollicular haemorrhages, corkscrew hairs, gum disease, poor wound healing, mood changes, and depression. Perifollicular haemorrhages and easy bruising are often first seen in the lower extremities, as capillary fragility leads to an inability to withstand hydrostatic pressure. Late stages of scurvy are more severe and life threatening| common manifestations include generalized oedema, severe jaundice, haemolysis, acute spontaneous bleeding, neuropathy, fever, convulsions, and death.

Klinefelter syndrome is a chromosomal disease that does not lead to congenital cataracts. A congenital cataract is the clouding of the cornea that is present from birth. Causes can be categorized as genetic, infectious, and metabolic. The most common infectious cause is congenital rubella syndrome. Galactosemia is a metabolic cause of congenital cataracts. Down’s syndrome represents a genetic cause of congenital cataract.

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.

Haemolytic-uremic syndrome (HUS) is a clinical syndrome characterized by progressive renal failure that is associated with microangiopathic (nonimmune, Coombs-negative) haemolytic anaemia and thrombocytopenia. HUS is the most common cause of acute kidney injury in children. It predominantly occurs in infants and children after prodromal diarrhoea. In summer epidemics, the disease may be related to infectious causes.Bacterial infections may include the following:S dysenteriaeE ColiSalmonella typhiCampylobacter jejuniYersinia pseudotuberculosisNeisseria meningitidisS pneumoniaLegionella pneumophilaMycoplasma speciesRickettsial infections may include Rocky Mountain spotted fever and microtatobiotesViral infections may include the following:Human immunodeficiency virus (HIV)CoxsackievirusEchovirusInfluenza virusEpstein-Barr virusHerpes simplex virusFungal infections can include Aspergillus fumigatus.Vaccinations may include the following:Influenza triple-antigen vaccineTyphoid-paratyphoid A and B (TAB) vaccinePolio vaccinePregnancy-associated HUS occasionally develops as a complication of preeclampsia. Patients may progress to full-blown haemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome. Postpartum HUS usually occurs within 3 months of delivery. The prognosis is poor, with a 50-60% mortality rate, and residual renal dysfunction and hypertension occur in most patients.

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

This patient has pulmonary renal syndrome which is most commonly due to an ANCA positive vasculitis. The history of recurrent epistaxis makes Wegener’s granulomatosis the most probable diagnosis. Wegener’s granulomatosis, microscopic polyangiitis, and idiopathic pauci-immune necrotizing crescentic glomerulonephritis (NCGN) are strongly associated with antineutrophil cytoplasmic autoantibodies (ANCAs) directed against either proteinase 3 (anti-PR3) or myeloperoxidase (anti-MPO).

Cow’s milk differs in composition to human breast milk. The sodium content of cows milk is too high, which can easily overwhelm a baby’s developing kidneys and lead to hypernatremia and dehydration. In addition to its iron content being too low, cows milk can cause further increase iron deficiency anaemia by irritating the baby’s intestinal lumen and causing blood loss per rectum. After 12 months a baby’s gastrointestinal tract and organs are able to tolerate cows milk.

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.

Noonan syndrome is one of the most common genetic diseases associated with congenital heart defects, being second in frequency only to Down syndrome.Pulmonary stenosis and hypertrophic cardiomyopathy are generally the most common congenital heart defects found in Noonan syndrome.Pulmonary stenosis is often associated with a thickened and dysplastic valve. It is usually difficult to obtain a satisfactory result using the transcatheter balloon dilatation of such dysplastic valves, so surgical intervention is more likely to be needed.Hypertrophic cardiomyopathy involves predominantly the ventricular septum as asymmetric septal hypertrophy, but may also affect the ventricular free walls. Left ventricular outflow tract obstruction may occasionally be produced.

The average age for girls to begin puberty is 11.The first sign of puberty in girls is usually that their breasts begin to develop.It’s normal for breast buds to sometimes be very tender or for one breast to start to develop several months before the other one.Pubic hair also starts to grow, and some girls may notice more hair on their legs and arms.After a year or so of puberty beginning, and for the next couple of years:girls’ breasts continue to grow and become fuller.Around 2 years after beginning puberty, girls usually have their first period,pubic hair becomes coarser and curlierunderarm hair begins to grow. From the time their periods start, girls grow 5 to 7.5cm (2 to 3 inches) annually over the next year or two, then reach their adult height.After about 4 years of puberty in girls:breasts become adult-likepubic hair has spread to the inner thighgenitals should now be fully developedgirls stop growing taller.

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

Acute lymphoblastic leukaemia (ALL) is an aggressive type of blood and bone marrow cancer which can appear in childhood. Signs of childhood ALL include: Fever, Easy bruising, Petechiae, Bone or joint pain, Painless lumps in multiple areas of the body, Weakness, fatigue or paleness, and Loss of appetite. Blood tests may show elevated white blood cells, decreased values of red blood cells and low platelet count.

The accuracy of the test for calcium levels in the blood is affected by the blood level of albumin. If albumin levels are low, the calcium level can also appear low.This is termed as pseudohypocalcemia.Hypocalcaemia usually presents with muscle spams. These can include spasms of voluntary muscle but also smooth muscle such as in the airways (causing bronchospasm) and in the heart (causing angina).

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.

Marfan syndrome is a disorder that affects the connective tissue found throughout the body, Marfan syndrome can affect many systems, often causing abnormalities in the heart, blood vessels, eyes, bones, and joints. The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and aortic root disease, leading to aneurysmal dilatation, aortic regurgitation and dissection is the main cause of morbidity and mortality in Marfan syndrome.

Gait variations in children are usually physiologically normal and only become a cause of concern when they persist or are associated with pain or other medical symptoms. Genu varus, also known as knock knees causes an outward rotation of the leg, leading the toes pointing outwards. The condition usually resolves by the age of 18 months. In comparison, in- toeing occurs with genu varus. Metatarsus adductus is also associated with an inward pointing of the toes.

The Chi-squared test would have been a useful test to compare the proportions in the scenario. However, due to the small sample size, Fisher’s exact test can be applied to analyse the significance of the difference. Adequate information is not given to determine what sample sizes were used to test the efficacy of the treatment, and to tell whether the treatment should be discontinued without further analysis on the data.

This presentation could be due to either a meningitis or encephalitis, which are clinically not distinguishable from the given history. Encephalitis is mostly viral and in UK herpes simplex virus is the main cause. Advanced neuro imaging and EEG will help to differentiate them however from the given answers CSF analysis is the most appropriate, provided that intracranial pressure is not raised. CSF analysis will help to differentiate a pyogenic meningitis from other forms of meningitis and encephalitis.

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

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

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

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

For Otorhinolaryngologist, removal of foreign bodies (FB) from the ear, nose and throat is one of the common emergency procedures done. Most of the cases especially of the ear and nose can be managed without General Anaesthesia (GA). But in some cases GA may be needed. As the child is mentally unstable, he is unlikely to be able to hold still while the foreign body (pea) is being removed with a forceps, which could result in instrumental damage to the ear canal. Pea is an organic foreign body and not metallic hence the use of magnets would not be of any help either. From the options provided, general anaesthesia would be the best option in this child.

Erythema nodosum is the most common type of inflammation of the subcutaneous fat tissue, referred to as panniculitis. Erythema nodosum appears as painful, erythematous round lumps, usually symmetrically on the anterior aspect of lower extremities. These lesions are self-limiting and tend to resolve within 2-8 weeks without undergoing necrosis. There are various causes of erythema nodosum, but the most important among children is the streptococcal throat infection. Other causes include autoimmune conditions like sarcoidosis, inflammatory bowel disease, mycobacterial infection (TB), and drugs like penicillin and sulphonamides. Coeliac disease is not linked with the formation of erythema nodosum.

The likely diagnosis in this case is Haemolytic Uremic Syndrome (HUS), which is generally seen in young children presenting with a triad of symptoms, namely: acute renal failure, microangiopathic haemolytic anaemia, and thrombocytopenia. The typical cause of HUS is ingestion of a strain of Escherichia coli.

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

Based on the clinical scenario, the most probable diagnosis for this patient is maxillary sinusitis.The maxillary sinus drains from its superior aspect, leaving it prone to infections. It is the most commonly affected sinus in sinusitis.Common symptoms of maxillary sinusitis include postnasal discharge, pain, headache and toothache.Radiological imaging may show a fluid level in the antrum.Common organisms causing maxillary sinusitis include Haemophilus influenzae or Streptococcus pneumoniae.Treatment with antral lavage may facilitate diagnosis and relieve symptoms. Antimicrobial therapy has to be continued for long periods. Antrostomy may be needed.Other options:- Frontal sinusitis more commonly causes intracranial complications, but it is still less frequent than maxillary sinusitis.- The petrosal sinus is not a cavity within bone| rather, it is a venous structure located beneath the brain.- Frontoethmoidal sinusitis: It usually presents with frontal headache, nasal obstruction and altered sense of smell. Inflammation may progress to involve periorbital tissues. Ocular symptoms may occur, and secondary CNS involvement brought about by infection entering via emissary veins. CT scanning is the imaging modality of choice. Early cases may be managed with antibiotics. More severe cases usually require surgical drainage.

Congenital duodenal atresia is one of the more common intestinal anomalies treated by paediatric surgeons, occurring 1 in 2500-5000 live births. In 25-40% of cases, the anomaly is encountered in an infant with trisomy 21 (Down syndrome).Presenting symptoms and signs are the results of high intestinal obstruction. Duodenal atresia is typically characterized by the onset of vomiting within hours of birth. While vomitus is most often bilious, it may be nonbilious because 15% of defects occur proximal to the ampulla of Vater. Occasionally, infants with duodenal stenosis escape detection of an abnormality and proceed into childhood or, rarely, into adulthood before a partial obstruction is noted. Nevertheless, one should assume any child with bilious vomiting has a proximal GI obstruction until proven otherwise, and further workup should be begun expeditiously.Once delivered, an infant with duodenal atresia typically has a scaphoid abdomen. One may occasionally note epigastric fullness from dilation of the stomach and proximal duodenum. Passing meconium within the first 24 hours of life is not usually altered. Dehydration, weight loss, and electrolyte imbalance soon follow unless fluid and electrolyte losses are adequately replaced. If intravenous (IV) hydration is not begun, a hypokalaemic/hypochloraemic metabolic alkalosis with paradoxical aciduria develops, as with other high GI obstruction. An orogastric (OG) tube in an infant with suspected duodenal obstruction typically yields a significant amount of bile-stained fluid.

Fitz-Hugh-Curtis syndrome (FHCS), or perihepatitis, is a chronic manifestation of pelvic inflammatory disease (PID). It is described as an inflammation of the liver capsule, without the involvement of the liver parenchyma, with adhesion formation accompanied by right upper quadrant pain. A final diagnosis can be made through laparoscopy or laparotomy via direct visualization of violin string-like adhesions or through hepatic capsular biopsy and culture. FHCS is a complication of PID. Microorganisms associated with PID are thought to spread in one of three ways:-Through spontaneous ascending infection, microbes from the cervix or vagina travel to the endometrium, through the fallopian tubes, and into the peritoneal cavity. Complications include endometritis, salpingitis, tubo-ovarian abscess, pelvic peritonitis, and perihepatitis.-Microbes can also spread via lymphatic channels such as an infection of the parametrium from an intrauterine device.-Finally, the hematogenous spread is also possible such as with tuberculosis.

Grommets are small tubes surgically inserted into the tympanic membrane to drain viscous inflammatory fluid found in the middle ear in bilateral otitis media with effusion of more than three months duration. There is no indication against using in ear headphones or flying. Swimming or snorkelling can be reinforced with ear plugs. However immersion of the child’s head in soapy water is to be avoided as the water is more likely to enter the ear.