The clinical presentation and way the boy ‘climbs up’ his legs to get up from a supine position (Gowers’ sign) suggests proximal muscle weakness secondary to dermatomyositis.Dermatomyositis is an inflammatory myopathy that typically presents between the ages of five years and ten years. The onset is insidious, and the proximal muscle weakness and raised creatine kinase might be mistaken for muscular dystrophy. However, the systemic illness and rash are characteristic features of the condition.

Pulmonary surfactant is a lipoprotein complex that is responsible for preventing the collapse of alveoli and increasing lung compliance.It is produced in the endoplasmic reticulum and secreted from the lamellar bodies of type 2 pneumocytes.Surfactant is essential for reducing surface tension at the air-water interface in the alveoli, thus preventing the collapse of alveoli during expiration. It is composed of dipalmitoyl phosphatidylcholine (DPPC), which is a phospholipid.In fetal development, production of surfactant begins around 26 weeks of gestation and reaches mature levels by 35 weeks.The deficiency of surfactant can result in neonatal respiratory distress syndrome or hyaline membrane disease, particularly in premature new-born babies.

Intussusception is a condition in which one segment of intestine telescopes inside of another, causing an intestinal obstruction. Although intussusception can occur anywhere in the gastrointestinal tract, it usually occurs at the junction of the small and large intestines. Most describe the symptoms of intussusception as a triad of colicky abdominal pain, bilious vomiting, and currant jelly stool. The primary symptom of intussusception is described as intermittent crampy abdominal pain.

The submandibular glands provide the bulk of salivary secretions contributing close to 70%. The sublingual glands provide 5% and the remainder from the parotid.

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 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.

Answer: Oculogyric crisisOculogyric crisis is an acute dystonic reaction of the ocular muscles characterized by bilateral dystonic elevation of visual gaze lasting from seconds to hours. This reaction is most commonly explained as an adverse reaction to drugs such as antiemetics, antipsychotics, antidepressants, antiepileptics, and antimalarials. Metoclopramide is a benzamide selective dopamine D2 receptor antagonist that is used as an antiemetic, with side effects that are seen frequently in children.1 The most common and most important side effects of metoclopramide are acute extrapyramidal symptoms, which require immediate treatment. Acute dystonic reactions occur as contractions of the muscles, opisthotonos, torticollis, dysarthria, trismus, and oculogyric crisis.

The sign being elicited in this patient is Nikolsky’s sign. Based on the findings, the patient is suffering from toxic epidermal necrolysis.Nikolskys sign: Rubbing the skin causes exfoliation of the outer layer and usually blistering within a few minutes. Other options:- Cullen’s sign: Periumbilical bruising due to intra-abdominal haemorrhage. If the discolouration is seen in the flanks, it is called Cullen’s sign. Underlying pathology includes ruptured ectopic pregnancy and haemorrhagic pancreatitis. – Forscheimer’s sign: It is a fleeting exanthem that is seen as small, red spots (petechiae) on the soft palate. Associated with rubella and glandular fever. Gorlin’s sign: It is the ability to touch the tip of the nose with the tongue. Increased incidence in children with connective tissue disorder, e.g. Ehler Danlos syndrome. – Auspitzs sign: These are small bleeding points are left behind when psoriatic scales are lifted off. It is not a very sensitive or specific sign. Other cutaneous signs include:- Hair collar sign: It is a collar of hypertrichosis around an area of cranial dysraphism.- Hertoghe’s sign (Queen Anne’s sign): It is the loss of lateral one-third of eye-brows. It is associated with numerous conditions, including lupus, HIV, and hypothyroidism. – Dariers sign: It is the swelling, itching and erythema that occurs after stroking skin lesions of a patient with systemic mastocytosis or urticarial pigmentosa. – Dermatographism: Rubbing the skin causes a raised, urticarial lesion. – Koebners phenomenon: It is the appearance of new skin lesions in areas of trauma.- Breakfast, lunch, and dinner sign: Linear pathway of a group of three to five papules caused by the common bed bug, Cimex lectularius. – Buttonhole sign: In type 1 neurofibromatosis, neurofibromas can be invaginated with the finger back into the subcutis. The nodule will reappear after the release of pressure. The sign is also positive for dermatofibromas. – Crowe’s sign: Axillary freckling seen in type I neurofibromatosis.

Bilirubin encephalopathy (BE), also known as kernicterus is a preventable complication of neonatal jaundice. Bilirubin deposits in the basal ganglia, hippocampus, geniculate bodies and cranial nerve nuclei, exerting direct neurotoxic effects and causing mass-destruction of neurons by apoptosis and necrosis.The clinical features of this diagnosis have been well described and can be divided into 3 stages:Phase 1 (first few days of life): Decreased alertness, hypotonia, and poor feeding are the typical signs. Obviously, these are quite nonspecific and could easily be indicative of a multitude of neonatal abnormalities. A high index of suspicion of possible BIND at this stage that leads to prompt intervention can halt the progression of the illness, significantly minimizing long-term sequelae. Of note, a seizure is not typically associated with acute bilirubin encephalopathy.Phase 2 (variable onset and duration): Hypertonia of the extensor muscles is a typical sign. Patients present clinically with retrocollis (backward arching of the neck), opisthotonos (backward arching of the back), or both. Infants who progress to this phase develop long-term neurologic deficits. Phase 3 (infants aged >1 wk): Hypotonia is a typical sign.

Fertilization occurs when the sperm reaches an egg released during ovulation. At the time of fertilization, the interaction of sperm with the zona pellucida stimulates the release of calcium. This process initiates a corona reaction that prevents polyspermy.