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

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.

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.

Infections of the superficial skin around the eyes are called periorbital, or preseptal, cellulitis. It is predominantly a paediatric disease. Erysipelas is a bacterial skin infection involving the upper dermis which extends into the superficial cutaneous lymphatics. Sinusitis is in sinuses. Orbital infections and conjunctivitis are within the eye.

Randomization is one of the ethical protocols for research work, involving unbiased sample selection. Consent is required before undertaking any research and is taken for the complete research work at once. No separate consent is required for the process of randomization. The consent should explain each and every aspect of the study, including details about the process of randomization. Only particular study designs, like Zelen design, permit the avoidance of consent to randomization but these studies have their setbacks.

Somogyi effect presents with night-time hypoglycaemia followed by early-morning hyperglycaemia, hence the glycosuria.

Primary amenorrhea is defined as the total absence of menarche in a girl of 14 years of age if the secondary sexual characteristics are also absent or in a girl of 16 years of age in whom normal secondary sexual characteristics are present. There are multiple causes of primary amenorrhea, but the most common are constitutional delay, imperforate hymen, congenital adrenal hyperplasia, hypothalamic failure, and testicular feminization. Cushing’s syndrome leads to secondary amenorrhea, which is defined as the absence of a menstrual period for 6 consecutive cycles in a girl who has achieved menarche.

As this boy was dry for a considerable period, there is a high chance of a secondary cause for the bed wetting, such as bladder infections, constipation, diabetes, psychological stress and hormonal problems etc. These have to be excluded.

Clotrimazole interferes with the ergosterol biosynthesis by decreasing ergosteron I biosynthesis, increasing membrane permeability, and disrupting membrane-bound enzyme systems.Vaginal candidiasis is an extremely common condition. Predisposing factors include:- diabetes mellitus- drugs: antibiotics, steroids- pregnancy- immunosuppression – iatrogenic

The most probable cause for the patient’s symptoms is intussusception.Intussusception is a condition in which part of the intestine folds into the section next to it. It most commonly involves the small bowel and rarely the large bowel. Intussusception doesn’t usually require surgical correction. 80% of cases can be both confirmed and reduced using barium, water-soluble or air-contrast enema. However, up to 10% of cases can experience recurrence within 24 hours after reduction, warranting close monitoring during this period.Other options:- Enteric duplication: a duplication cyst could give all these features, although it may contain sufficient gastric epithelium to produce a positive Meckel’s scan. However, this is comparatively rare. – Meckel’s diverticulum: Scintigraphy has poor sensitivity making the possibility of a bleed from a Meckel’s diverticulum a genuine differential for this patient. However, considering the presence of features of bowel obstruction in the patient, a Meckel’s diverticulum bleeding and obstructing at the same time would be a rare phenomenon. – Midgut volvulus: It is also a plausible differential in this patient. However, for the given age group, a midgut volvulus is relatively uncommon compared to intussusception. – Acute appendicitis: While it is true that appendicitis can present acutely with a palpable mass and bowel obstruction, it rarely presents with rectal bleeding.

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disease. The Lisch nodule represents one of the most common NF1 ocular manifestations.NF1 is caused by a genetic mutation which can cause tumours to grow on nerve endings| these cutaneous neurofibromas are benign tumours which grow on the skin, often first appearing during the hormonal changes that occur in teenage years. They vary in size and can appear anywhere on the body. The number of neurofibromas present differs greatly between individuals and over a lifetime Café au lait spots (coffee coloured birthmarks) are often the first and most common sign of NF1, and these are often found at birth and are usually evident by 2 years of age.Other features of NF1 can include Lisch nodules of the iris (small pigmentation in the iris which causes no disturbance to vision), skin-fold freckling (freckling/pigmentation in the groyne and armpits), plexiform neurofibromas (or sub cutaneous neurofibromas) which are diffuse tumours that grow along a nerve and are found in at least 25 % of people with NF1, optic gliomas (tumour of the optic nerve), and skeletal complications including pseudarthrosis and scoliosis. Macrocephaly (large head size) is also common, and short stature is found in around a third of people with NF1. Rare complications include a risk of malignancy, organs being compromised by neurofibromas, seizures, and hypertension.

The combination of cholestasis, congenital heart disease (mainly affecting the pulmonary vasculature) and anterior-segment abnormalities (primarily posterior embryotoxon) suggests a diagnosis of Alagille syndrome. Clinical features:The facial features are characteristic and include a prominent forehead, deep-set eyes and a pointed chin. The most common skeletal manifestation is butterfly vertebrae, a clefting abnormality of the vertebrae most often seen in the thoracic spine and described in up to 87% of cases. Radio-ulnar synostosis and short phalanges have also been described in Alagille but less frequently. Note: Pectus excavatum is a feature of Noonan syndrome, one of the differential diagnoses of pulmonary valve disease.

An odds ratio (OR) is a measure of association between an exposure and an outcome. The OR represents the odds that an outcome will occur given a particular exposure, compared to the odds of the outcome occurring in the absence of that exposure. Odds ratios are most commonly used in case-control studies, however they can also be used in cross-sectional and cohort study designs as well (with some modifications and/or assumptions). Wherea = Number of exposed casesb = Number of exposed non-casesc = Number of unexposed casesd = Number of unexposed non-casesOR=(a/c) / (b/d) = ad/bc

Successful administration of median nerve block can be confirmed by the inability to abduct the thumb. The median nerve supplies all the muscles in the anterior compartment of the forearm, apart from the flexor carpi ulnaris and the flexor digitorum profundus to the outer two fingers: so these two fingers can still be flexed. There is a sensory loss to the thumb, index, middle and half of the ring fingers. Absence of thumb abduction due to paralysis of abductor pollicis brevis is a good test for median nerve paralysis.Other options:- The radial nerve supplies the extensors – hence wrist drop does not occur in this scenario. – The ulnar nerve supplies the skin of the ulnar side of the hand. Hence anaesthesia will not affect this area. – The ulnar nerve also supplies the interossei muscles of the hand, which affect abduction and adduction of the fingers.

Based on the presentation, the developmental age of the child is 8 months.The primitive reflexes are indicators of functional integrity and maturity. The majority of reflexes do not persist beyond 6 months of age. There are 13 reflexes of importance, including:- Moro reflex- Startle reflex- Rooting reflex- Sucking reflex- Grasp reflex- Voluntary palmar grasp reflex- Voluntary reach reflex- Stepping reflex- Asymmetrical tonic neck reflex (ATNR)- Parachute reflex- Plantar reflex- Tendon reflex- ClonusIt is interesting to note that gastrocolic reflex is not a primitive reflex.Ninety-five per cent of reflexes will have disappeared by the ages shown below:- 6 weeks: Stepping- 3-4 months: Palmar grasp and Moro- 6 months: Sucking, rooting, and asymmetrical tonic neck reflex (ATNR)

Bone age is used to determine the maturation of a child’s bones’ and is used to detect pathological growth. This is done using the X-ray of the wrist. Several conditions can either advance or delay the bone age such that they may not match the child’s chronological age. Bone age is advanced in conditions where there are prolonged or elevated sex hormone levels such as precocious puberty, or in genetic overgrowth conditions such as Beckwith-Wiedemann syndrome. Bone age is delayed in constitutional growth delay, chronic ill health, endocrine disorders such as growth hormone deficiencies or hypothyroidism, genetic disorders such as Trisomy 21, Trisomy 18, and Turner’s syndrome. Obesity is unlikely to cause growth delay.

Acoustic neuroma/vestibular schwannoma is a benign slow-growing tumour. The clinical picture of the child suggests neurofibromatosis type 1 (NF1), with cafe-au-lait spots and axillary and inguinal freckling.

Toe walking refers to a pattern of walking in which the infants walk on the balls of their feet, without putting the heel of the feet on the ground. It is considered normal under the age of 2 years, but if it continues beyond that, it can signify some underlying pathology. The diseases that can be associated with toe walking include unilateral hip dislocation, Spinal tumours, Duchenne muscular dystrophy, prematurity, and cerebral palsy. Waardenburg’s syndrome is an autosomal dominant disorder, causing sensorineural deafness, and heterochromatic irises. Toe walking is not a feature.

The deep peroneal nerve lies in the anterior muscular compartment of the lower leg and can be compromised by compartment syndrome affecting this area. It provides cutaneous sensation to the first web space. The superficial peroneal nerve provides more lateral cutaneous innervation.Origin: It originates from the common peroneal nerve, at the lateral aspect of the fibula, deep to peroneus longus. Root values of common peroneal nerve: L4, L5, S1, and S2.Course and relation: It pierces the anterior intermuscular septum to enter the anterior compartment of the lower leg. Following which, it passes anteriorly down to the ankle joint, midway between the two malleoli. It terminates in the dorsum of the foot.Throughout the course it innervates:- Tibialis anterior- Extensor hallucis longus- Extensor digitorum longus- Peroneus tertius- Extensor digitorum brevisAt its termination, it innervates the skin in the web space between the first and second toes.Actions performed by the muscles supplied by the nerve:- Dorsiflexion of ankle joint- Extension of all toes- Inversion of the foot

The boy seems to have a varicocele so the most appropriate next step would be reassurance. A varicocele is an enlargement of the veins within the scrotum called the pampiniform plexus. A varicocele only occurs in the scrotum and is very similar to varicose veins that can occur in the leg. Because a varicocele usually causes no symptoms, it often requires no treatment.

According to the NICE guidelines, the frequency of stool passage is considered constipation when two or more of the following findings are present: Fewer than 3 stools a week, large hard stools, stools that resemble rabbit droppings| symptoms associated with defecation including distress, bleeding or straining| a history of previous episodes of a precious/current anal fissure. The child in the scenario fails to meet the criteria, and has no evidence of impacted faeces on examination. The best course of action is to encourage the parents to give the child more water to prevent dehydration, and feed the child a fibre rich diet including fruits, vegetables and high fibre bread.

Idiopathic hypercalciuria (IH) is the commonest metabolic abnormality in patients with calcium kidney stones. It is characterized by normocalcemia, absence of diseases that cause increased urine calcium, and calcium excretion that is above 250 mg/day in women and 300 mg/day in men. Subjects with IH have a generalized increase in calcium turnover, which includes increased gut calcium absorption, decreased renal calcium reabsorption, and a tendency to lose calcium from bone. Despite the increase in intestinal calcium absorption, negative calcium balance is commonly seen in balance studies, especially on a low calcium diet. The mediator of decreased renal calcium reabsorption is not clear| it is not associated with either an increase in filtered load of calcium or altered PTH levels. There is an increased incidence of hypercalciuria in first-degree relatives of those with IH, but IH appears to be a complex polygenic trait with a large contribution from diet to expression of increased calcium excretion. Increased tissue vitamin D response may be responsible for the manifestations of IH in at least some patients.

This girl most likely has Turner syndrome (TS) also known as 45,X, a condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, they are without menstrual periods, do not develop breasts, and are unable to have children. Heart defects, diabetes, and low thyroid hormone occur more frequently. Most people with TS have normal intelligence. Many, however, have troubles with spatial visualization such as that needed for mathematics. Vision and hearing problems occur more often. Turner syndrome is not usually inherited from a person’s parents. No environmental risks are known and the mother’s age does not play a role. As a chromosomal condition, there is no cure for Turner syndrome. However, much can be done to minimize the symptoms including prescribing growth hormone, either alone or with a low dose of androgen, and oestrogen replacement therapy which is crucial long term for maintaining good bone integrity, cardiovascular health and tissue health

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.

Tinea corporis is a type of dermatophytosis, caused by Trichophyton or Microsporum. The disease is highly contagious and rapidly spreads to all the areas of the body, including the glabrous skin. It produces an erythematous itchy skin rash with a central area of clearance surrounded by raised scaly borders. Lesions can appear as concentric circles that overlap, referred to as tinea imbricate.

A preterm with respiratory distress syndrome presents with the condition as a result of immature lungs and inadequate surfactant production. Management of RDS therefore includes surfactant therapy, oxygen administration and mechanical ventilation, as well as measures such maintaining acid base levels and blood haemoglobin in an intensive care unit. Dexamethasone is not shown to be particularly effective when given to a preterm, but can however be used to prevent or decrease RDS severity when given to the mother before delivery.

Among the given options, the most likely cause for the patient’s presenting symptoms is acute interstitial nephritis secondary to anti-tubercular therapy (ATT)Drug-induced acute interstitial nephritis can occur following treatment with beta-lactams, sulphonamides, rifampicin, ethambutol, and erythromycin. They can cause an acute allergic reaction with the infiltration of immune cells.Acute interstitial nephritis is said to be the most common renal complication in patients undergoing anti-TB treatment. Rifampicin is the most implicated drug, although ethambutol can also be a cause. The pathogenesis involves an immune-complex mediated acute allergic response, which leads to their deposition on renal vessels, the glomerular endothelium, and the interstitial area. Other options:Isoniazid does not affect the kidneys. Pulmonary-renal syndrome is a feature of Goodpasture’s syndrome. It is characterized by renal failure and lung haemorrhage. Severe cardiac or renal failure ensues and is complicated by pulmonary oedema, systemic lupus erythematosus, Henoch-Schönlein purpura, and cryoglobulinemia.

This patient has Wilson’s disease. They Kayser-Fleischer ring (ring that encircles the iris) is diagnostic of this. Low serum copper is seen in Wilson’s disease. With the Kayser-Fleischer ring, this makes all of the other answer choices incorrect.

Patients with HIV have a deficiency of CD4 lymphocytes which are also known as helper T cells (Th). They are involved with antigen-specific responses as well as delayed-type hypersensitivity. The risk of developing P. jiroveci pneumonia is greatest with a CD4 count of 200 x 109/l or below.

Using a Doppler device, you can estimate systolic BP even when the pulse is inaudible. Handheld and portable, the device uses ultrasound waves to detect the velocity of arterial blood flow. Helpful for patients with traumatic injuries or shock, the Doppler technique is also useful for children and patients whose BP is hard to hear because of oedema, obesity, vasoconstriction, or low cardiac output.