Vitamin A is a fat-soluble compound occurring in various forms. The RDA for 0-12 months old babies is 400-600micrograms/day. Most of the vitamin A is stored in the liver, making animal liver an excellent source of vitamin A. Vitamin A deficiency is characterized by the deposits of keratin in the conjunctiva, known as Bitot’s spots, keratomalacia, night blindness, and anaemia.Vitamin A toxicity or excess is characterized by hyperkeratosis, hypothyroidism, hypo/hyperpigmentation, etc.According to WHO guidelines, children under two years of age who develop measles should be given two additional doses of vitamin A supplementation 24 hours apart, which is necessary for preventing eye damage, blindness, and reducing mortality by 50%.

Duchenne muscular dystrophy has an X-linked recessive pattern of inheritance. Since the first son is affected by the disease, it means that the mother is a carrier. The male children will inherit the Y chromosome from their father and the X chromosome from their mother, having 50% chances of inheriting the X chromosome with the affected gene.

Marfan syndrome (MFS) is a spectrum of disorders caused by a heritable genetic defect of connective tissue that has an autosomal dominant mode of transmission. The defect itself has been isolated to the FBN1 gene on chromosome 15, which codes for the connective tissue protein fibrillin. Abnormalities in this protein cause a myriad of distinct clinical problems, of which the musculoskeletal, cardiac, and ocular system problems predominate.The most severe of these clinical problems include aortic root dilatation and dissection, which have historically been the causative factors in early patient demise. Skeletal deformities such as thoracolumbar scoliosis, thoracic lordosis, and pectus excavatum, may lead to pulmonary difficulties that include restrictive airway disease and cor pulmonale if the deformities are progressive and untreated. Finally, blindness may result from unrecognized and untreated glaucoma, retinal detachment, and cataracts.The skeleton of patients with MFS typically displays multiple deformities including arachnodactyly (i.e., abnormally long and thin digits), dolichostenomelia (i.e., long limbs relative to trunk length), pectus deformities (i.e., pectus excavatum and pectus carinatum), and thoracolumbar scoliosis. In the cardiovascular system, aortic dilatation, aortic regurgitation, and aneurysms are the most worrisome clinical findings. Mitral valve prolapse that requires valve replacement can occur as well. Ocular findings include myopia, cataracts, retinal detachment, and superior dislocation of the lens.Other features:General tall staturePectus excavatum or carinatumDisproportionately long, slender armsDisproportionately long digitsArachnodactylyFinger contracturesReduced extension of elbows (< 170 degrees)Protrusio acetabuli (intrapelvic displacement of the acetabulum)Pes planus (flat feet)HypermobilityArthralgiaJoint instabilityScoliosisKyphosisDolichocephalia (elongated face)High arched palateDental crowdingDental malocclusion

Membranoproliferative glomerulonephritis primarily affects children and young adults, with patients presenting with nephrotic or nephritic syndrome or with asymptomatic renal disease. There are 3 types defined by pathologic features. All three types are associated with hypocomplementemia, but they manifest somewhat different mechanisms of complement activation. This type of glomerulonephritis often progresses slowly to end-stage renal disease, and it tends to recur after renal transplantation, especially type II.

The most probable cause for the patient’s presenting symptoms is Sarcoptes scabeii.Scabies:The boy in the scenario presents with a pruritic rash affecting the palms of the hands, especially in the web spaces between the fingers. Additionally, the fact that his sister is showing similar symptoms is an indication of its infectivity. The female Sarcoptes scabiei var hominis mite burrows into the webs of fingers and the sides of digits as seen in the child.This parasitic skin infestation presents typically with nocturnal itching. Other options:- Herpes simplex virus type 1 (HSV-1): This can affect this age group but would usually present with a vesicular perioral rash with associated erythema. – Human papillomavirus (HPV): Cutaneous human papillomavirus infection causes warts, which can form a dome and fleshy shaped lesions on the palms of the hands, but these are not usually itchy. Similar to the causative agent in the boy, they are contagious.- Poxvirus: These viruses cause molluscum contagiosum which presents as dome-shaped lesions anywhere on the body, rather than specifically in palms of hands or finger webs as seen in the boy. Poxviruses are also very infectious.- Staphylococcal infection: This causes impetigo, which presents with yellow discharge and underlying erythema. Impetigo is not usually itchy and can present on any part of the body, rather than the specific areas seen in the boy.

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.

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

Findings described are suggestive of Waterhouse-Friderichsen syndrome which develops secondary to meningococcaemia. The reported incidence of Addison’s disease is 4 in 100,000. It affects both sexes equally and is seen in all age groups. It tends to show clinical symptoms at the time of metabolic stress or trauma. The symptoms are precipitated by acute infections, trauma, surgery or sodium loss due to excessive perspiration.

The murmur and thrill indicate a right outflow tract murmur, coupled with the right ventricular heave suggests right ventricular hypertrophy. The VSD would not have been amenable to surgery due to the child’s size/weight and so instead would have been palliated with a PA band. As the child grows, this band progressively restricts pulmonary blood flow until the left to right shunt has reversed. Then it is time for the band to be removed and the VSD to be closed.Pulmonary atresia is a cyanotic condition, which may be palliated with an arterial duct stent. This answer is incorrect as the stent placement would not require a midline sternotomy and would give a continuous machinery type murmur. Pulmonary stenosis with PDA ligation is incorrect. The murmur, thrill, and heave all match a pulmonary stenosis but in the absence of an additional shunt lesion the child would not be cyanosed.

Live virus vaccines include: Vaccinia (smallpox), Measles, Mumps, Rubella (MMR combined vaccine), Varicella (chickenpox), Influenza (nasal spray), Rotavirus, Zoster (shingles) and Yellow fever. Inactivated vaccines are Polio (IPV), Hepatitis A and Rabies.

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

An appendicular mass, on the whole, is managed medically with intravenous antibiotics and monitoring for signs of obstruction or on-going sepsis. If the child is not responding to medical management, then surgery is performed. This is due to the high morbidity risk associated with operating on an appendicular mass. Consent for a limited right hemi-colectomy must be taken after explaining the increased risk of complications. The decision whether or not to perform an interval appendicectomy is controversial and currently subject to a multicentre national trial. The likelihood of another episode of appendicitis is 1 in 5. Other options:- Ultrasound and clinical examination is sufficient to confirm the diagnosis, especially in a boy. This may not be the case in females.- Majority of appendicular masses respond to conservative management. – Raised CRP indicates significant inflammatory response and thus intravenous antibiotics are indicated. – Intravenous antibiotics are indicated due to sepsis. Oral antibiotics are not sufficient to tackle sepsis in this scenario.

Sepsis can be described as a condition in which there is a dysregulated inflammatory response to an infection. In the case of neonates, sepsis can be life threatening and may present with respiratory distress more than 4 hours after birth, shock, seizures, and multi organ failure. Risk factors that further point to sepsis include prolonged rupture of maternal membranes for more than 24 hours before birth, a history of a maternal fever during labour, or parenteral antibiotic treatment given to the mother for a suspected or confirmed bacterial infection.

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.

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.

This temperature is considered to be a mild fever and is most often caused by a minor infection in children of this age. Therefore, an infection screen should be conducted and an IV antibiotic.

Rhabdomyosarcoma originates from skeletal muscle cells. A biopsy is needed for grading according to microscopy. Most patients are adult females.

Removal of foreign bodies from the ear is indicated whenever a well-visualized foreign body is identified in the external auditory canal. Insects are better extracted with suction than with forceps or hooks. From the given answers, irrigation with warm water is the most suitable answer.

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.

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

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

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

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

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).

The child has symptoms and signs suggestive of an inflammatory arthropathy. This is why he should firstly be referred for an eye exam to exclude iritis or treat it if present. – Amblyopia is not directly associated with inflammatory arthropathies unless they had recurrent ocular involvement.- Blepharitis is not an associated finding in a child with inflammatory arthropathy.- Episcleritis may occur, and is often non-sight threatening, and therefore would not be the main cause for concern.- Optic neuropathy in juvenile inflammatory arthritis has been reported, although it is rare.

Incontinentia pigmenti is a genetic condition that affects females more than males. It usually manifests in the skin but can affect other parts of the body as well. It presents with a blistering rash that may evolve into wart-like growths. Hyperpigmentation and hair loss are also present, as well as eye and teeth abnormalities. Clinically there are three phases: 1- the bullous phase – crops of vesicles appear in the first 2 weeks of life|2- the papular phase – warty papules that flatten out over the skin| and 3- the hyperpigmented phase – pigmentary changes in the form of whorls and streaks that are hypo- and hyperpigmented in nature.

Still’s disease is a rare systemic disorder that accounts for 10% of cases of juvenile idiopathic arthritis (JIA). The aetiology is unknown. It affects boys and girls equally up to the age of five years of age, following which, girls are more commonly affected. Clinical features of this disease include:- Fever- Maculopapular rash- Myalgia- Generalised lymphadenopathy- Hepatosplenomegaly- Pericarditis and pleuritis Laboratory investigations reveal raised ESR and CRP. There can also be coexisting neutrophilia and thrombocytosis. Anti-nuclear autoantibodies and rheumatoid factor are usually negative in patients with Still’s disease.On the rare case that they are present, their titres are generally low.

The baby has duodenal atresia.Presenting symptoms and signs are 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.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).

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

DiGeorge syndrome is one of the most common microdeletion syndromes, resulting from 22q11 deletion. 10% of the cases can be inherited in an autosomal dominant fashion, while 90% are sporadic. The syndrome is characterized by a deficiency of both T and B-cell lines along with hearing loss, 20-fold increased lifetime chances of developing schizophrenia, renal abnormalities, congenital heart defects, and a borderline or low IQ. Distinctive facial features include micrognathia, long face, short philtrum, cleft palate, and small teeth.