A consultation with an ENT is required to establish the reason for the child’s drooling and stridor indicating and obstructive process. Enlarged tonsils and adenoids should be checked.

The aetiology of macrocephaly is diverse.The most common cause is benign familial macrocephaly characterized by enlargement of the subarachnoid spaces and accounts for almost 50% of cases.Other causes are:- Enlargement of skull bones – Hyperostosis cranii – associated with disorders such as osteogenesis imperfecta, achondroplasia, and osteopetrosis- Secondary enlargement due to bone marrow expansion – as seen in thalassemia major- Increase in volume of cerebrospinal fluid- Hydrocephalus, Choroid plexus papilloma, Benign familial macrocephaly- Megalencephaly – Leukodystrophies – Canavan disease, Alexander disease, megalencephalic leukoencephalopathy with subcortical cysts- Lysosomal storage disorders – Tay-Sachs, mucopolysaccharidosis, gangliosidosis- Neurocutaneous disorders – Tuberous sclerosis, Sturge-weber syndrome, neurofibromatosis, Gorlin syndrome- Autism spectrum disorder- Other syndromes – Fragile X syndrome, Cowden syndrome, Sotos syndrome- Increased intracranial pressure (ICP)- CNS infections, Pseudotumor cerebriSubdural collections including hygromas- Mass lesions and an increase in the volume of bloodTumourIntraventricular haemorrhage, subdural hematoma, arteriovenous malformation

Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.People with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth (philtrum), widely spaced eyes that are usually pale blue or blue-green in colour, and low-set ears that are rotated backwards. Affected individuals may have a high-arched palate, poor teeth alignment, and micrognathia. Many children with Noonan syndrome have a short neck, and both children and adults may have excess neck skin (also called webbing) and a low hairline at the back of the neck.Between 50 and 70 % of individuals with Noonan syndrome have short stature. At birth, they are usually a normal length and weight, but growth slows over time. Individuals with Noonan syndrome often have either a pectus excavatum or pectus carinatum. Some affected people may also have scoliosis.Most people with Noonan syndrome have some form of critical congenital heart disease. The most common heart defect in these individuals is pulmonary valve stenosis. Some have hypertrophic cardiomyopathy.A variety of bleeding disorders have been associated with Noonan syndrome. Some affected individuals have excessive bruising, nosebleeds, or prolonged bleeding following injury or surgery. Rarely, women with Noonan syndrome who have a bleeding disorder have excessive bleeding during menstruation (menorrhagia) or childbirth.Adolescent males with Noonan syndrome typically experience delayed puberty. They go through puberty starting at age 13 or 14 and have a reduced pubertal growth spurt that results in shortened stature. Most males with Noonan syndrome have undescended testes (cryptorchidism), which may contribute to infertility (inability to father a child) later in life. Females with Noonan syndrome can experience delayed puberty but most have normal puberty and fertility.Most children diagnosed with Noonan syndrome have normal intelligence, but a few have special educational needs, and some have an intellectual disability. Some affected individuals have vision or hearing problems. It has been estimated that children with Noonan syndrome have an eightfold increased risk of developing leukaemia or other cancers over age-matched peers.

Although some individuals with Anorexia Nervosa exhibit no laboratory abnormalities, the semistarvation characteristic of this disorder can affect most major organ systems and produce a variety of disturbances. The induced vomiting and abuse of laxatives, diuretics, and enemas can also cause a number of disturbances leading to abnormal laboratory findings.Haematology: Leukopenia and mild anaemia are common| thrombocytopenia occurs rarely.Chemistry: Dehydration may be reflected by an elevated blood urea nitrogen (BUN). Hypercholesterolemia is common. Liver function tests may be elevated.Hypomagnesemia, hypozincaemia, hypophosphatemia, and hyperamylasaemia are occasionally found. Induced vomiting may lead to metabolic alkalosis (elevated serum bicarbonate), hypochloraemia, and hypokalaemia, and laxative abuse may cause a metabolic acidosis. Serum thyroxine levels are usually in the low-normal range| triiodothyronine levels are decreased. Hyperadrenocorticism and abnormal responsiveness to a variety of neuroendocrine challenges are common.In females, low serum oestrogen levels are present, whereas males have low levels of serum testosterone. There is a regression of the hypothalamic-pituitary-gonadal axis in both sexes in that the 24-hour pattern of secretion of luteinizing hormone (LH) resembles that normally seen in prepubertal or pubertal individuals.

Normal cerebrospinal fluid (CSF) glucose together with lymphocytosis, an increased opening pressure and raised CSF protein are typical of a viral meningitis.

The most possible diagnosis is SVT. The boy is suffering from hemodynamic instability, as indicated by his cold extremities. DC cardioversion is the treatment of choice.

Cranial nerve XI is also known as the accessory nerve. The accessory nerve innervates the trapezius muscle which retracts the scapula. The upper and lower fibres act together to also upwardly rotate it.

Becker’s muscular dystrophy is a disease characterised by progressive weakness and wasting of the skeletal and cardiac muscles. It is inherited and primarily affects males.

The injury described in question leads to an abnormal communication between the orbit and the ipsilateral maxillary sinus – this is termed as a blow-out fracture of the orbit.The maxillary sinuses are found in the maxillary bone, inferior to the orbit. They are the largest of the paranasal air sinuses. The maxillary bone forms the floor of the orbit. This layer of bone separates the orbit from the maxillary sinus. As such, fractures of the floor of the orbit can be associated with herniation of the orbital contents into the maxillary sinus. Other options:- The ethmoidal air cells are a collection of smaller air cells in the ethmoid bone. They lie lateral to the anterior superior nasal cavity. They are separated from the orbit by a very thin plate of ethmoid bone called the lamina papyracea, which is found on the medial wall of the orbit. The thin nature of this bone means it is commonly fractured in orbital trauma. However, this is the incorrect answer to the above question as a communication between the ethmoidal air cells, and the orbit is associated with fractures of the medial wall of the orbit, not the floor. – The frontal sinuses are found in the frontal bones, above the orbits on each side of the head. A large portion of the roof of the orbit is composed of the frontal bone and separates the orbit from the frontal sinus. Fractures of the roof of the orbit can be associated with communication between the frontal sinus and orbit. The frontal bones are strong, and so fracture is associated with high-impact anterior trauma, such as a road traffic accident. – The sphenoid sinuses are found in the posterior portion of the roof of the nasal cavity. The pituitary gland lies nestled within the hypophyseal fossa, with only a thin wall of bone separating it from the sphenoid sinus below. As such, neurosurgeons can gain access to the pituitary gland via the sphenoid sinus, in a procedure called transsphenoidal hypophysectomy. – The nasal cavity extends from the nares to the nasopharynx. It is found more medial and inferior than the orbits. It does not lie adjacent to the orbit at any point and so is unlikely to be involved in an orbital fracture.

Benign neonatal sleep myoclonus is a condition characterised by neonatal onset myoclonic jerks during NREM. Characteristic for this disorder is the absence of electroencephalographic findings.

HELLP syndrome is a complication of pregnancy characterized by haemolysis, elevated liver enzymes, and a low platelet count. It usually begins during the last three months of pregnancy or shortly after childbirth. HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: Haemolysis, Elevated Liver enzyme levels, and Low Platelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue| malaise| fluid retention and excess weight gain| headache| nausea and vomiting| pain in the upper right or middle of the abdomen| blurry vision| and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby. The main treatment is to deliver the baby as soon as possible, even if premature, if there is distress of the mother or the baby. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems.

Based on the clinical presentation, the child probably has orthostatic proteinuria.Orthostatic proteinuria occurs when the kidneys can conserve urine when the patient is recumbent, such as sleeping at night, but leak protein with standing or in exercise. This results in early morning urine being negative for protein but late in the day urine being positive. It is mostly seen in tall thin adolescents and is benign. Other options:- Alport’s syndrome is a hereditary condition associated with haematuria and deafness. – Urinary tract infections can cause proteinuria, but leucocyte esterase and nitrites would also be expected in a child of this age. – Nephritic syndrome can be associated with proteinuria, but haematuria would also be present. – In nephrotic syndrome, proteinuria would be present on all occasions and associated with oedema.

People with Gilbert syndrome have a build-up of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia). In affected individuals, bilirubin levels fluctuate and very rarely increase to levels that cause jaundice. Gilbert syndrome is usually recognized in adolescence. If people with this condition have episodes of hyperbilirubinemia, these episodes are generally mild and typically occur when the body is under stress, for instance because of dehydration, prolonged periods without food (fasting), illness, vigorous exercise, or menstruation. Some people with Gilbert syndrome also experience abdominal discomfort or tiredness. However, approximately 30 percent of people with Gilbert syndrome have no signs or symptoms of the condition and are discovered only when routine blood tests reveal elevated unconjugated bilirubin levels.

The most probable diagnosis for this patient, according to the clinical scenario provided is tuberous sclerosis. It is an autosomal-dominant disorder characterised by hamartomas located throughout the body, often prominently involving the central nervous system and skin. Two loci on chromosomes 9 and 16 have been identified to be associated with this condition. The condition has a variable expression and penetrance and is further characterised by:- Seizures (usually infantile spasms)- Developmental delay- Facial/cutaneous angiofibromas (adenoma sebaceum)- Periungual fibromas (pink projections from the nail folds)- Shagreen patches (leathery thickenings of the skin usually on the back) – Ash leaf macules (areas of depigmentation that become visible under a Wood’s light)- Fundoscopy may reveal white streaks along the fundal vessels.

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.

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.

The blood-brain barrier (BBB) is a term used to describe the unique properties of the microvasculature of the central nervous system (CNS). CNS vessels are continuous nonfenestrated vessels, but also contain a series of additional properties that allow them to tightly regulate the movement of molecules, ions, and cells between the blood and the CNS.Blood vessels are made up of two main cell types: Endothelial Cells (ECs) that form the walls of the blood vessels, and mural cells that sit on the abluminal surface of the EC layer. The properties of the BBB are largely manifested within the ECs, but are induced and maintained by critical interactions with mural cells, immune cells, glial cells, and neural cells, which interact in the neurovascular unit.Astrocytes are a major glial cell type, which extends polarized cellular processes that ensheath either neuronal processes or blood vessels.This includes regulating the contraction/dilation of vascular smooth muscle cells surrounding arterioles as well as PCs surrounding capillaries. Astrocytes have been identified as important mediators of BBB formation and function because of the ability of purified astrocytes to induce barrier properties.

The murmur of tricuspid valve regurgitation is typically a high-pitched, blowing, holosystolic, plateau, nonradiating murmur best heard at the lower left sternal border. The intensity is variable, but tends to increase during inspiration (Carvallo’s sign), with passive leg raising, after a post-extrasystole pause, and following amyl nitrite inhalation. The intensity of the murmur tends to correlate positively with the severity of regurgitation. Right ventricular enlargement may displace the location of the murmur leftward. Right ventricular failure may abolish respiratory variation. When tricuspid regurgitation is caused by pulmonary hypertension, a pulmonic ejection click may be audible. Severe tricuspid regurgitation is commonly accompanied by a third heart sound emanating from the right ventricle and best heard at the lower left sternal border. Severe tricuspid regurgitation typically produces an accentuated jugular cv wave and may produce hepatic congestion with a pulsatile liver.The auscultatory findings associated with ventricular septal defect are variable, depending on a variety of morphologic and hemodynamic considerations. The systolic murmur associated with a Roger’s-type ventricular septal defect (regurgitant jet flows directly into the right ventricular outflow tract) in patients with low pulmonary vascular resistance is a low to medium pitched, holosystolic murmur with midsystolic accentuation. The intensity of the murmur is typically grade 3 or higher.Patent ductus arteriosus produces a continuous murmur in patients with normal pulmonary vascular resistance.

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.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency in humans.It has a high prevalence in persons of African, Asian, and Mediterranean descent. It is inherited as an X-linked recessive disorder.G6PD deficiency is polymorphic, with more than 300 variantsG6PD deficiency can present as neonatal hyperbilirubinemia. Besides, persons with this disorder can experience episodes of brisk haemolysis after ingesting fava beans or being exposed to certain infections or drugs. Less commonly, they may have chronic haemolysis. However, many individuals with G6PD deficiency are asymptomatic.Most individuals with G6PD deficiency do not need treatment. However, they should be taught to avoid drugs and chemicals that can cause oxidant stress. Infants with prolonged neonatal jaundice as a result of G6PD deficiency should receive phototherapy with a bili light.

Hyperkalaemia is not to evaluate or detect AKI but rather the result of it. If one of the rest of the options is present, then AKI would be suspected.

Possible Zika virus infections have been identified in breastfeeding babies, but Zika virus transmission through breast milk has not been confirmed. Additionally, we do not yet know the long-term effects of Zika virus on young infants infected after birth. Because current evidence suggests that the benefits of breastfeeding outweigh the risk of Zika virus spreading through breast milk, CDC continues to encourage mothers to breastfeed, even if they were infected or lived in or travelled to an area with risk of Zika.

Relative risk = (Incidence in exposed group)/incidence in unexposed group). So in this case RR = (50/100)/(50/200) = 2.

Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. This condition is inherited in an X-linked recessive pattern It is characterized by neurological and behavioural abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. Excess uric acid can be released from the blood and build up under the skin and cause gouty arthritis (arthritis caused by an accumulation of uric acid in the joints). Uric acid accumulation can also cause kidney and bladder stones.The nervous system and behavioural disturbances experienced by people with Lesch-Nyhan syndrome include abnormal involuntary muscle movements, such as tensing of various muscles (dystonia), jerking movements (chorea), and flailing of the limbs (ballismus). People with Lesch-Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Self-injury (including biting and head banging) is the most common and distinctive behavioural problem in individuals with Lesch-Nyhan syndrome.

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

Puberty is when a child’s body begins to develop and change as they become an adult.The average age for girls to begin puberty is 11, while for boys the average age is 12.It’s completely normal for puberty to begin at any point from the ages of 8 to 14. The process can take up to 4 years.

DiGeorge syndrome usually presents at a young age with abnormal faces. Chest x-ray is characterised by an absent thymic shadow and recurrent infections due to an abnormal T-cell mediated immune response. Sometimes it presents by convulsions of the new-born due to hypocalcaemia as a result of a malfunctioning parathyroid gland and low levels of PTH.

Ectoderm derivatives include the adrenal medulla, posterior pituitary, the epidermis of the skin, nails, hair, sweat glands, mammary glands, sebaceous glands, the central nervous system, the peripheral nervous system, the retina and lens of eye, the pupillary muscle of the iris, melanocytes, Schwann cells and odontoblasts.

The x-ray is suggestive of bronchiectasis. The most probable aetiology especially considering recurrent chest infections at such a young age is cystic fibrosis.

Infective endocarditis occurs when microorganisms enter the bloodstream and infect damaged endocardium or endothelial tissue. It most commonly involves the heart valves (either native or prosthetic), but it may also occur at the site of a septal defect, on the chordae tendineae, or on the mural endocardium. The prototypic lesion is at the site of the infection| the vegetation is a mass of platelets, fibrin, microcolonies of microorganisms, and scant inflammatory cells. Endocarditis is classified as acute or subacute, which applies to the features and the progression of infection until diagnosis.The oral cavity, the skin, and the upper respiratory tract are the primary portals for Streptococcus viridans| Staphylococcus species| and Haemophilus aphrophilus, Aggregatibacter (formerly Actinobacillus) actinomycetemcomitans, Cardiobacterium hominis, Eikenella corrodens, and Kingella kingae (HACEK) organisms. Streptococcal and staphylococcal organisms are responsible for more than 80% of cases of bacterial IE.Streptococcus viridans accounts for approximately 50-60% of cases of subacute disease.While S aureus infection is the most common cause of IE, including Prosthetic valve endocarditis, acute IE, and IV Drug Abusers IE