3,4-methylenedioxy-methamphetamine (MDMA) is a synthetic drug that alters mood and perception (awareness of surrounding objects and conditions). It is chemically similar to both stimulants and hallucinogens, producing feelings of increased energy, pleasure, emotional warmth, and distorted sensory and time perception. MDMA’s effects last about 3 to 6 hours, although many users take a second dose as the effects of the first dose begin to fade. Over the course of the week following moderate use of the drug, a person may experience:irritabilityimpulsiveness and aggressiondepressionsleep problemsanxietymemory and attention problemsdecreased appetitedecreased interest in and pleasure from sex

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

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

Graves disease is an autoimmune disorder in which patients present with thyrotoxicosis and related ophthalmopathy, and dermopathy. Many affected patients experience hyperthyroidism. Peak incidence of graves disease is after the 3rd decade of life and is more common in women than in men. Graves susceptibility is association with HLA-DR3. Clinical features of Graves disease include an increased metabolic rate, heat intolerance, irritability, weight loss despite increasing appetite, diarrhoea palpitations, chemosis, acropachy and onycholysis.

Hirschsprung’s disease is characterized by congenital absence of the autonomic plexus (Meissner’s and Auerbach’s plexus) in the intestinal wall. Usually limited to the distal colon, it can occasionally involve the entire colon or even the small bowel. There is abnormal or absent peristalsis in the affected segment, resulting in continuous spasm of smooth muscle and partial/complete obstruction. This causes accumulation of intestinal contents and dilatation of proximal segment. Skip lesions are highly uncommon. This disease is seen early in life with 15% patients presenting in first month, 60% by 1 year of age and 85% by the age of 4 years. Symptoms include severe and complete constipation, abdominal distension and vomiting. Patients with involvement of ultra-short segments might have mild constipation with intervening diarrhoea. In older children, symptoms include failure to thrive, anorexia, and lack of an urge to defecate. On examination, an empty rectum is revealed with stool palpable high up in the colon. If not diagnosed in time, it can lead to Hirschsprung’s enterocolitis (toxic megacolon), which can be fulminant and lead to death. Diagnosis involves a barium enema or a rectal suction biopsy. Barium enema shows a transition in diameter between the dilated, normal colon proximal to the narrowed, affected distal segment. It is to be noted that barium enema should be done without prior preparation, which can dilate the abnormal segment, leading to a false-negative result. A 24-hour post-evacuation film can be obtained in the neonatal period -if the colon is still filled with barium, there is a high likelihood of Hirschsprung’s disease. Full-thickness rectal biopsy is diagnostic by showing the absence of ganglion cells. Acetylcholinesterase staining can be done to highlight the enlarged nerve trunks. Abnormal innervation can also be demonstrated by rectal manometry.

Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence. Common features of this condition include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, and salt craving. Also common is a tingling or prickly sensation in the skin (paraesthesia), most often affecting the face. Some individuals with Gitelman syndrome experience excessive tiredness (fatigue), low blood pressure, and a painful joint condition called chondrocalcinosis. Studies suggest that Gitelman syndrome may also increase the risk of a potentially dangerous abnormal heart rhythm called ventricular arrhythmia.

This clinical picture is typical of chickenpox, which is treated with antihistamines and calamine lotion. In the case of fever, acetaminophen can be used. Generally treatment is purely for symptomatic relief.

At the age of three years a child is to be able to dress and undress himself with supervision, eat with a spoon and fork, build a tower with 9 cubes, give their full name and copy a circle. The child will not be able to make good cuts with scissions until he is about 5 years old.

Absence seizures are induced by over breathing or hyperventilation, while the other features suggest partial seizures.

Munchausen syndrome by proxy is a mental illness and a form of child abuse. The caretaker of a child, most often a mother or a father, either makes up fake symptoms or causes real symptoms to make it look like the child is sick. The person with MSP gains attention by seeking medical help for exaggerated or made-up symptoms of a child in his or her care. As health care providers strive to identify what’s causing the child’s symptoms, the deliberate actions of the mother or caretaker can often make the symptoms worse.The person with MSP does not seem to be motivated by a desire for any type of material gain. People with MSP may create or exaggerate a child’s symptoms in several ways. They may simply lie about symptoms, alter tests (such as contaminating a urine sample), falsify medical records, or they may actually induce symptoms through various means, such as poisoning, suffocating, starving, and causing infection.

The sensitivity of a screening test can be described in a variety of ways, typically such as sensitivity being the ability of a screening test to detect a true positive, being based on the true positive rate, reflecting a test’s ability to correctly identify all people who have a condition, or, if 100%, identifying all people with a condition of interest by those people testing positive on the test.The specificity of a test is defined in a variety of ways, typically such as specificity is the ability of a screening test to detect a true negative, being based on the true negative rate, correctly identifying people who do not have a condition, or, if 100%, identifying all patients who do not have the condition of interest by those people testing negative on the test.

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 has a history of pharyngitis followed 10 days later by signs of glomerulonephritis. In this particular case, it is most probably a post-streptococcus glomerulonephritis which accounts for 80% of paediatric cases of glomerulonephritis.

Breastfeeding may be significantly impaired (up to 25%) by breast augmentation. Equally, breast engorgement, which occurs due to vascular congestion, reduces nipple protrusion and subsequent ability to breastfeed successfully. In the latter, regular feeding or expressing is required.

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.

The hypothalamus and pituitary gland control how much testosterone the testes produce and secrete. The hypothalamus sends a signal to the pituitary gland to release gonadotrophic substances (follicle stimulating hormone and luteinizing hormone). Luteinizing hormone (LH) stimulates testosterone production.

The characteristic cells in granulomatous inflammation are giant cells, formed from merging macrophages and epithelioid cells elongated with granular eosinophilic cytoplasm. Granulomatous reactions are seen in patients with tuberculosis. A tuberculous/caseating granuloma is characterised by a zone of central necrosis lined with giant multinucleated giant cells (Langhans cells) and surrounded by epithelioid cells, lymphocytes and fibroblasts. The caseous zone is present due to the damaged and dead giant cells and epithelioid cells. Mast cells are only few in number and fibroblasts lay down collagen. Basophils are not present. The giant cell made up of macrophages are the most abundant cells in this inflammatory process.

Benign intracranial hypertension is characterized by an elevation of the CSF pressure that is not caused by hydrocephalus or any space-occupying lesion. The cause is most likely the decreased absorption of CSF into the dural sinuses. The main symptoms are headache and visual abnormalities. It can lead to blindness if not managed on time. The most important risk factors for BIH are female gender and obesity. The causes of BIH include iron deficiency anaemia, sarcoidosis, Lyme disease, SLE, polycythaemia vera, chronic kidney disease, meningitis, and sleep apnoea.

Fanconi anaemia, a rare autosomal recessive condition, presents with congenital abnormalities and defective hemopoiesis. Clinical signs include pallor and bruising. Hypoplasia of the thumbs and radial hypoplasia are two of the most common congenital abnormalities. Conductive deafness is also common. Those with Fanconi anaemia have a higher risk for developing acute myeloid leukaemia.

Alopecia is a scalp condition characterized by either overall baldness or patches of hair loss over the head. It can be broadly classified as scarring alopecia and non-scarring alopecia. Non-scarring is the most common type and is seen in various conditions like nutritional deficiencies, alopecia areata, hypothyroidism, tinea capitis, and SLE. Scarring alopecia is commonly seen in cases of discoid lupus erythematosus, which is a common cause of widespread inflammatory and scarring lesions all over the body and scalp.

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.

The most appropriate next step in the management would be to refer the patient for an ENT opinion. Rationale:This child has clinical signs of adenotonsillar hypertrophy, symptoms of persistent snoring and features of obstructive sleep apnoea (OSA). Suspected OSA warrants referral to an ENT specialist. Other options:- Capillary blood gas: The investigation consists of overnight oxygen saturation monitoring or polysomnography.- Chest X-ray: A chest x-ray is not indicated.- Phenoxymethylpenicillin (Penicillin V) is the first-line treatment for tonsillitis. However, with a history of several months and no suggestion of fever or sore throat, acute tonsillitis is unlikely.- Weight loss advice: Obesity is a risk factor for obstructive sleep apnoea (OSA) amongst other health problems. The child’s weight should be highlighted and advice and support for weight loss provided however referral to ENT is warranted for further investigation.

Transfusion with blood products carries a risk of acute and more chronic adverse reactions. These reactions can either be immune mediated due to a component mismatch, or non immune, underpinned by bacterial or viral contamination. Reactions range from very mild such as urticaria, to life threatening in the case of transfusion-related acute lung injury. In transfusion with packed red blood cells, the most common adverse event is pyrexia, while urticaria is the most common adverse event that follows infusion with FFP.

Minimal change disease is a type of glomerulonephritis that mostly affects younger children. Proteinuria is present which leads to body oedema. But in these patients blood pressure is normal.

The most probable diagnosis for this patient would be external angular dermoid.External angular dermoids typically form where there are overlapping tissue planes such as the midline. They contain a caseous material. The cysts are essentially benign in nature and are excised for cosmetic purposes or when they encroach on vision.Other options:- Branchial remnant typically presents as a supraclavicular pit.- Sebaceous cysts tend to be present on the scalp.- There is nothing in the clinical scenario to suggest a vascular malformation such as pigment change or ‘bag of worms’.- Lymphatic malformations are typically found in the neck or under the axilla.

There are 6 pharyngeal arches, the fifth does not contribute any useful structures and often fuses with the sixth arch. The structures arising from the aortic arches are as follows:First aortic arch: It regresses except for a very small part that gives rise to the maxillary artery.Second aortic arch: It regresses except for a very small part giving rise to the stapedial artery.Third aortic arch: This arch is the source of the common carotid artery and the proximal part of the internal carotid artery, and the external carotid which arises as a bud from this arch.Right Fourth aortic arch: Is the genesis of the proximal part of the right subclavian artery.Left Fourth aortic arch: Gives rise to the medial portion of the arch of the aorta.Fifth aortic arch: The fifth aortic arch regresses completely and very early in the development.Sixth aortic arch: Either of the sixth aortic arches divides into ventral and dorsal segments, and therefore, their derivatives also divide into these two segments.Right Sixth Arch:Ventral: Gives rise to the right pulmonary artery.Dorsal: It degenerates completely and loses its connection with the dorsal aorta.Left Sixth ArchVentral: It gives rise to the left pulmonary artery that goes to the left pulmonary bud.Dorsal: It forms a vital connection during intrauterine life between the left pulmonary artery and the arch of the aorta. This structure is called ductus arteriosus.

Injuries to the peroneal nerve can cause numbness, tingling, pain, weakness and foot drop. The branches of the common peroneal nerve innervate and control the muscles in the legs that lift the ankle and toes upward (dorsi flexion).

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.

Tuberous sclerosis is an autosomal dominant neurocutaneous condition associated with increased psychiatric co-morbidity. It results from the mutation of TSC1 or TSC2 tumour suppressor genes. Multiple benign tumours of the brain and other vital organs are characteristic of this disease. Important findings include subependymal nodules, bone cysts, cardiac rhabdomyoma, and learning difficulties. Lisch nodules of the iris occur in neurofibromatosis.

A case-control study (also known as case-referent study) is a type of observational study in which two existing groups differing in outcome are identified and compared on the basis of some supposed causal attribute. Case-control studies are often used to identify factors that may contribute to a medical condition by comparing subjects who have that condition/disease (the cases) with patients who do not have the condition/disease but are otherwise similar (the controls).An odds ratio (OR) is a statistic that quantifies the strength of the association between two events, A and B. The odds ratio is defined as the ratio of the odds of A in the presence of B and the odds of A in the absence of B or vice versa.