Leiner disease belongs to a heterogeneous group of disorders associated with permanent or temporary complement C5 plasma deficiency. It is a rare disease that follows an autosomal recessive pattern of transmission. It is prevalent in female, breast-fed babies. The hallmark of this syndrome is severe diarrhoea, severe generalized seborrheic dermatitis, central nervous system defects, marked wasting, recurrent local and systemic infections, and failure to thrive.

The most overt phenotypic features of Klinefelter syndrome are caused by testosterone deficiency and, directly or indirectly, by unsuppressed follicle-stimulating and luteinizing hormones. Affected men typically have (in decreasing order of frequency): infertility, small testes, decreased facial hair, gynecomastia, decreased pubic hair, and a small penis. Because of their long legs, men with Klinefelter syndrome often are taller than predicted based on parental height. Body habitus may be feminized. In childhood, when there is a relative quiescence in the hormonal milieu, ascertainment of the syndrome may be difficult because the effects of hypogonadism (i.e., small external genitalia and firm testes) may be subtle or not present at all.

Ebstein’s anomaly is characterised by apical displacement and adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium, thereby displacing the functional tricuspid orifice apically and dividing the right ventricle into two portions. The main haemodynamic abnormality leading to symptoms is tricuspid valve incompetence. The clinical spectrum is broad| patients may be asymptomatic or experience right-sided heart failure, cyanosis, arrhythmias and sudden cardiac death (SCD). Many Ebstein’s anomaly patients have an interatrial communication (secundum atrial septal defect (ASD II) or patent foramen ovale). Other structural anomalies may also be present, including a bicuspid aortic valve (BAV), ventricular septal defect (VSD), and pulmonary stenosis. The morphology of the tricuspid valve in Ebstein anomaly, and consequently the clinical presentation, is highly variable. The tricuspid valve leaflets demonstrate variable degrees of failed delamination (separation of the valve tissue from the myocardium) with fibrous attachments to the right ventricular endocardium.The displacement of annular attachments of septal and posterior (inferior) leaflets into the right ventricle toward the apex and right ventricular outflow tract is the hallmark finding of Ebstein anomaly.

After a period of 14 days, if jaundice persists in a term new-born, having ruled out the other possibilities, biliary atresia should be considered as a possible diagnosis.Biliary atresia is a rare but serious condition. Symptoms include obstructive jaundice (dark urine and pale stool). Management:Surgery within 8 weeks is recommended. Survival is around 90% using current treatment regimes. Without treatment, children will survive to around 18 months.

The most common cause of acute urticaria is a viral infection. Individual lesions typically are short-lived and last less than 24 hours. Urticaria can be due to or can be made worse by cold temperatures. One of the other causes of urticaria is salicylic acid.

An important predictor of the foetal well-being is the evaluation of amniotic fluid volumes, commonly done using ultrasonography. Amniotic fluid index (AFI) is calculated by measuring the largest vertical diameter of the fluid pocket in all four quadrants of the uterine cavity and then added together. Oligohydramnios or decreased amniotic fluid volume can be defined as an AFI less than 5cm and occurs in about 4-5% of the pregnancies. It is associated with a number of foetal abnormalities and complications. Foetal abnormalities that lead to oligohydramnios include premature rupture of membranes, intrauterine growth retardation, and congenital foetal abnormalities among others. A single umbilical artery is an anatomical defect of the umbilical cord, which leads to IUGR, uteroplacental insufficiency and may be associated with multiple congenital abnormalities as well, which all ultimately lead to the development of oligohydramnios. It also leads to multiple complications, out of which the incidence of chorioamnionitis is very high. Other complications include fetal growth retardation, limb contractures, GI atresia, and even fetal death.

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 child’s problem should be assessed properly to find the reason for unhappiness at the school. There can be many reasons such as bullying at school, abuse etc. A clinical psychologist should assess this child to take the necessary details and plan the further management.

6 month old babies that go through normal developmental milestones, should enjoy playing with others and especially their parents.The other milestones are expected of a 9-month-old.

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.

The patient has hyperprolactinaemia with otherwise normal oestradiol, FSH and LH. This is highly suggestive of Prolactinoma rather than a non functioning tumour.In polycystic ovaries, there is increase in the level of LH while FSH is normal or low.

The baby most probably has dystrophic epidermolysis bullosa, a primarily autosomal dominant disorder associated with keratin 5 and 14 defects. Initial management consists of supportive measures such as protecting the skin.

Cystic fibrosis is an autosomal recessive inherited disorder that affects the lungs or the pancreas. In the case of an affected child whose parents do not have the disorder but carry one copy of the mutated gene, each sibling has a 50% chance of being a carrier of the disease. They can inherit one copy of the gene from each parent. There is a 25 % chance that the child may inherit both mutated genes and be homozygous for the trait.

Broca’s area is usually supplied by branches from the middle cerebral artery and thus will be spared when the anterior cerebral artery is occluded.Note:The two internal carotid arteries and two vertebral arteries form an anastomosis known as the Circle of Willis on the inferior surface of the brain. Each half of the circle is formed by:1. Anterior communicating artery2. Anterior cerebral artery3. Internal carotid artery4. Posterior communicating artery5. Posterior cerebral arteries and the termination of the basilar arteryThe circle and its branches supply the corpus striatum, internal capsule, diencephalon and midbrain.

Craniopharyngiomas (also known as Rathke pouch tumours, adamantinomas or hypophyseal duct tumours) affect children mainly between the age of 5 and 10 years. It constitutes 9% of brain tumours affecting the paediatric population. These are slow-growing tumours which can also be cystic, and arise from the pituitary stalk, specifically the nests of epithelium derived from Rathke’s pouch. Histologically, this tumour shows nests of squamous epithelium which is lined on the outside by radially arranged cells. Calcium deposition is often seen with a papillary type of architecture.
ACTH-secreting pituitary adenomas are rare and mostly microadenomas. Paediatric astrocytoma’s usually occur in the posterior fossa. Although null cell adenomas can cause mass effect and give rise to the described symptoms, they are not suprasellar. Prolactinomas can also show symptoms of headache and disturbances in the visual field, however they are known to be small and slow-growing.

The general target of weight gain in the neonatal intensive care unit is to replicate the intrauterine growth in the third trimester, which equates to the daily weight gain of nearly 15 g/kg/day with infants receiving 120 kcal/kg/day

Pale, bulky, malodorous stools are evidence of fat malabsorption syndrome. The diagnostic test is jejunal biopsy to rule out other differential diagnoses such as celiac disease, giardiasis or Crohn’s disease etc.

The organisms most likely to cause post-splenectomy sepsis include:- Streptococcus pneumoniae- Haemophilus influenzae- MeningococciEncapsulated organisms carry the most significant pathogenic risk following splenectomy. Hyposplenism:It may complicate certain medical conditions where splenic atrophy occurs or maybe the result of medical intervention such as splenic artery embolization and splenectomy for trauma. The diagnosis of hyposplenism is difficult, and while there may be peripheral markers of the splenectomised state (e.g. Howell-Jolly bodies), these are neither 100% sensitive or specific. The most sensitive test is a radionucleotide labelled red cell scan.It dramatically increases the risk of post-splenectomy sepsis, particularly with encapsulated organisms. Since these organisms may be opsonized, but this then goes undetected at an immunological level due to loss of the spleen. For this reason, individuals are recommended to be vaccinated and have antibiotic prophylaxis.Key recommendations:- All those with hyposplenism or prior to an elective splenectomy should receive pneumococcal, Haemophilus type b and meningococcal type C vaccines. These should be administered two weeks before or two weeks following splenectomy. The vaccine schedule for meningococcal disease primarily consists of a dose of Men C and Hib at two weeks and then a dose of the MenACWY vaccine one month later. Those aged under two may require a booster at two years. A dose of pneumococcal polyvalent polysaccharide vaccine (PPV) is given at two weeks. A conjugate vaccine (PCV) is offered to young children. The PCV is more immunogenic but covers fewer serotypes. Boosting PPV is either guided by serological measurements (where available) or by routine boosting doses at five-yearly intervals.Annual influenza vaccination is recommended in all cases- Antibiotic prophylaxis is offered to all. The risk of post-splenectomy sepsis is highest immediately following splenectomy. Individuals with an inadequate response to pneumococcal vaccination are another high-risk group. High-risk individuals should be counselled to take penicillin or macrolide prophylaxis. Those at low risk may choose to discontinue therapy. All patients should be advised about taking antibiotics early in the case of intercurrent infections.- Asplenic individuals travelling to malaria-endemic areas are at high risk and should have both pharmacological and mechanical protection.

Fabry disease (Angiokeratoma corporis diffusum) is an X-linked lysosomal disorder which occurs due to deficiency or absence of alpha-galactosidase A (α-GAL A) activity as a result of a genetic mutation in the GLA gene. As Fabry’s disease follows X-linked genetics it manifestis predominantly in men. Ongoing burning, tingling pain and discomfort, known as acroparesthesia, mainly affecting the hands and feet is the most debilitating symptom in childhood.

Diabetes ketoacidosis is one of the most serious and acute complications of diabetes. At the time of presentation and during treatment of diabetic ketoacidosis (DKA), several metabolic and electrolyte derangements can ultimately result in respiratory compromise. Most commonly, hypokalaemia, hypomagnesemia and hypophosphatemia can eventually lead to respiratory muscles failure. Furthermore, tachypnoea, hyperpnea and more severely, Kussmaul breathing pattern can develop. Also, hydrostatic and non-hydrostatic pulmonary oedema can occur secondary to volume shifts into the extracellular space and secondary to increased permeability of the pulmonary capillaries. The presence of respiratory failure in patients with DKA is associated with higher morbidity and mortality. Being familiar with the causes of respiratory compromise in DKA, and how to treat them, may represent better outcomes for patients with DKA.

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 disorders, e.g. Ehler Danlos syndrome. – Auspitzs sign: These are small bleeding points 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.

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 Ca and phosphates to be released from bones to buffer the acidosis causing hypercalciuria, thus precipitating calcium compounds in the kidney. Other consequences of the dRTA in children include rickets, hypokalaemia, and polyuria. While dRTA can occur as a result of various pathologies including autoimmune disease, proximal renal tubular acidosis often presents as part of Fanconi’s syndrome. One way to differentiate between the two conditions is with an acid challenge test. In proximal RTA offering the child an acid load will decrease the urinary ph whereas in distal disease the pH will be unaffected due to impairment in hydrogen ion secretion.

The child has Chronic suppurative otitis media (CSOM) which is defined as a perforated tympanic membrane with persistent drainage from the middle ear for more than 2-6 weeks.CSOM differs from chronic serous otitis media in that chronic serous otitis media may be defined as a middle ear effusion without perforation that is reported to persist for more than 1-3 months. Patients with chronic suppurative otitis media (CSOM) present with a draining ear of some duration and a premorbid history of recurrent acute otitis media, traumatic perforation, or the placement of ventilation tubes. Typically, they deny pain or discomfort. A common presenting symptom is hearing loss in the affected ear. Reports of fever, vertigo, and pain should raise concerns about infratemporal or intracranial complications. A history of persistent CSOM after appropriate medical treatment should alert the physician to consider cholesteatoma.The external auditory canal may or may not be oedematous and is not typically tender. The discharge varies from fetid, purulent, and cheese like to clear and serous. Granulation tissue is often seen in the medial canal or middle ear space. The middle ear mucosa visualized through the perforation may be oedematous or even polypoid, pale, or erythematous.

In older children who are able to have regular meal timings, the insulin regimen of choice is the basal-bolus regimen, which comprises a dose of long-acting insulin in combination with three doses of short-acting insulin. The dosage timings coincide with the meal times, ensuring greater flexibility and feasibility. The long-acting insulin serves to provide a stable glycaemic control. The other given regimens are suitable for younger children with a more irregular meal schedule.

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.

An enlarged lymph node does not necessarily need treatment especially if it is caused by a virus. If it is bacterial, antibiotics should be prescribed. Amoxicillin is first line treatment in non-penicillin allergic patients and side effects include allergic reactions like skin rash and itching

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

Projectile vomiting is the hallmark symptom of hypertrophic pyloric stenosis. It is the most common cause of intestinal obstruction in infancy, which has a male-to-female predominance of 4-5:1. Current management recommendations include ultrasonography for diagnosis, correction of electrolytes, and surgical intervention.

The most common position of the appendix is the retrocecal position.Note: If a retrocecal appendix is difficult to remove, then mobilisation of the right colon significantly improves access.Other options:The various positions of the appendix are:- Retrocecal (74%)- Pelvic (21%)- Postileal- Subcaecal- Paracaecal- Preileal

Chédiak–Higashi syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.