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.

Haemophilia B (also known as Christmas disease) is due to a deficiency in factor IX. Haemophilia A is due to a deficiency in factor VIII.

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.

Maternal and fetal toxoplasma infection may be avoided by advising pregnant women to wear gloves when gardening or handling cat litter and to cook meat thoroughly. Affected babies are treated with pyrimethamine, sulfadiazine, and folic acid.

Time- EventWeek 1: ImplantationWeek 2: Formation of bilaminar diskWeek 3: Formation of primitive streakFormation of notochordGastrulationWeek 4: Limb buds begin to formNeural tube closesHeart begins to beatWeek 10: Genitals are differentiated

WHO states that diabetes can be diagnosed from a single fasting glucose of > 7.0 mmol/l with characteristic symptoms or a glucose level of > 11.1 mmol/l 2 hours after a glucose load. Two fasting glucose levels of > 7.0 mmol/l on separate occasions can also fit the diagnosis in the absence of characteristic symptoms.

Umbilical hernias are common in young children and they carry a low risk of incarceration as compared to inguinal hernias. About 90% umbilical hernias resolve by the age of 4 years. The best management for young children is to wait for resolution without surgical repair, unless there are complications. Parents should be assured that the child does not need to be referred to the general surgeon, nor should any home remedies such as taping a coin over the hernia be encouraged. If after the age of 4 it has not resolved, then surgery is indicated. This also applies to girls to prevent an unsightly hernia should she get pregnant.

Achondroplasia is one of the commonest forms of skeletal dysplasias that lead to dwarfism. Multiple skeletal deformities are associated with it but the common cranial abnormalities are macrocephaly, frontal bossing, depressed nasal bridge, narrowed foramen magnum, and the presence of communicating hydrocephalus. A prominent maxilla is not associated with achondroplasia.

Angio-oedema, is the rapid swelling of the skin, mucosa and submucosal tissues. The underlying mechanism typically involves histamine or bradykinin. The version related to histamine is to due an allergic reaction to agents such as insect bites, food, or medications. The version related to bradykinin may occur due to an inherited C1 esterase inhibitor deficiency, medications e.g. angiotensin converting enzyme inhibitors, or a lymphoproliferative disorder.

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.

Diagnostic criteria of PCOsAccording to the American Association of Clinical Endocrinologists, at least two of three of the criteria below are required for diagnosis of PCOS after excluding other causes of irregular bleeding and elevated androgen levels.Hyperandrogenism (clinical or laboratory)Oligo- and/or anovulationPolycystic ovaries on ultrasoundDiagnosis of PCOS is possible without the presence of ovarian cysts.Rule out any other causes of hyperandrogenism and anovulation.Blood hormone levels↑ Testosterone (both total and free) or free androgen index↑ LH (LH:FSH ratio > 2:1)Oestrogen is normal or slightly elevated A clinical picture of hyperandrogenism overrules any normal hormone levels and can fulfil a diagnostic criterium of PCOS.

Lamotrigine does not significantly increase risk of birth defects during pregnancy.

Acute epiglottitis is a life-threatening disorder with serious implications to the anaesthesiologist because of the potential for laryngospasm and irrevocable loss of the airway. There is inflammatory oedema of the arytenoids, aryepiglottic folds and the epiglottis| therefore, supraglottitis may be used instead or preferred to the term acute epiglottitis.Acute epiglottitis can occur at any age. The responsible organism used to be Hemophilus influenzae type B (Hib), but infection with group A b-haemolytic Streptococci has become more frequent after the widespread use of Hemophilus influenzae vaccination. The typical presentation in epiglottitis includes acute occurrence of high fever, severe sore throat and difficulty in swallowing with the sitting up and leaning forward position in order to enhance airflow. There is usually drooling because of difficulty and pain on swallowing. Acute epiglottitis usually leads to generalized toxaemia. The most common differential diagnosis is croup and a foreign body in the airway. A late referral to an acute care setting with its serious consequences may result from difficulty in differentiation between acute epiglottitis and less urgent causes of a sore throat, shortness of breath and dysphagia.

Answer: Undertake a laparotomyIntussusception, which is defined as the telescoping or invagination of a proximal portion of intestine (intussusceptum) into a more distal portion (intussuscipiens), is one of the most common causes of bowel obstruction in infants and toddlers.Intussusception may be ileoileal, colocolic, ileoileocolic, or ileocolic (the most common type).Most infants with intussusception have a history of intermittent severe cramping or colicky abdominal pain, occurring every 5-30 minutes. During these attacks, the infant screams and flexes at the waist, draws the legs up to the abdomen, and may appear pale. These episodes may last for only a few seconds and are separated by periods of calm normal appearance and activity. However, some infants become quite lethargic and somnolent between attacks.Infants with intussusception require surgical correction. Prompt laparotomy following diagnosis is crucial for achieving better outcomes. Primary anastomosis can be performed successfully, and stomas can be created in the critically ill patients or those with late detection and septicaemia.

Answer: Surveillance annual flexible sigmoidoscopy from age 13 years until age 30 years. Familial adenomatous polyposis (FAP) is the most common adenomatous polyposis syndrome. It is an autosomal dominant inherited disorder characterized by the early onset of hundreds to thousands of adenomatous polyps throughout the colon. If left untreated, all patients with this syndrome will develop colon cancer by age 35-40 years. In addition, an increased risk exists for the development of other malignancies.Most patients with FAP are asymptomatic until they develop cancer. As a result, diagnosing presymptomatic patients is essential.Of patients with FAP, 75%-80% have a family history of polyps and/or colorectal cancer at age 40 years or younger.Nonspecific symptoms, such as unexplained rectal bleeding (haematochezia), diarrhoea, or abdominal pain, in young patients may be suggestive of FAP.In a minority of FAP families a mutation cannot be identified and so annual flexible sigmoidoscopy should be offered to at risk family members from age 13–15 years until age 30, and at three to five year intervals thereafter until age 60 years.

Breast milk jaundice is a type of jaundice associated with breast-feeding. It typically occurs one week after birth. The condition can sometimes last up to 12 weeks, but it rarely causes complications in healthy, breast-fed infants. The exact cause of breast milk jaundice isn’t known. However, it may be linked to a substance in the breast milk that prevents certain proteins in the infant’s liver from breaking down bilirubin. The condition may also run in families. Breast milk jaundice is rare, affecting less than 3 percent of infants. When it does occur, it usually doesn’t cause any problems and eventually goes away on its own. It’s safe to continue breast-feeding.

The swelling and bruising on the mandible needs to be checked for fractures. A facial X-ray can adequately visualize this.

The most common congenital cyanotic heart disease and the most common cause of blue baby syndrome, Tetralogy of Fallot shows four cardiac malformations occurring together. These are ventricular septal defect (VSD), pulmonary stenosis (right ventricular outflow obstruction), overriding aorta (degree of which is variable), and right ventricular hypertrophy. The primary determinant of severity of disease is the degree of pulmonary stenosis. Tetralogy of Fallot is seen in 3-6 per 10,000 births and is responsible for 5-7% congenital heart defects, with slightly higher incidence in males. It has also been associated with chromosome 22 deletions and DiGeorge syndrome. It gives rise to right-to-left shunt leading to poor oxygenation of blood. Primary symptom is low oxygen saturation in the blood with or without cyanosis at birth of within first year of life. Affected children ay develop acute severe cyanosis or ‘tet spells’ (sudden, marked increase in cyanosis, with syncope, and may result in hypoxic brain injury and death). Other symptoms include heart murmur, failure to gain weight, poor development, clubbing, dyspnoea on exertion and polycythaemia. Chest X-ray reveals characteristic coeur-en-sabot (boot-shaped) appearance of the heart. Treatment consists of immediate care for cyanotic spells and Blalock–Taussig shunt (BT shunt) followed by corrective surgery.

Low oxygen delivery in hypotension, hypoxia, oedema, intracranial hypertension or changes in cerebral blood flow should all be prevented to avoid secondary brain injury. There is no evidence to suggest that hypothermia prevents secondary brain injuries.

ADH primarily acts on the collecting ducts.Other options:- The juxtaglomerular apparatus is the site of renin production.- The proximal tubule conducts isosmotic reabsorption of about 60% of sodium chloride and volume. Most of the glucose, amino acids, potassium and phosphate are absorbed here.- The loop of Henle is the site of 25% of sodium reabsorption. Active Chloride transport provides the basis for the counter current multiplier aiding urinary concentration.- The distal convoluted tubule is impermeable to water and acts via active sodium chloride absorption to dilute urine.

Haemolytic-uremic syndrome (HUS) is a clinical syndrome characterized by progressive renal failure that is associated with microangiopathic (nonimmune, Coombs-negative) haemolytic anaemia and thrombocytopenia. HUS is the most common cause of acute kidney injury in children. It predominantly occurs in infants and children after prodromal diarrhoea. In summer epidemics, the disease may be related to infectious causes.Bacterial infections may include the following:S dysenteriaeE ColiSalmonella typhiCampylobacter jejuniYersinia pseudotuberculosisNeisseria meningitidisS pneumoniaLegionella pneumophilaMycoplasma speciesRickettsial infections may include Rocky Mountain spotted fever and microtatobiotesViral infections may include the following:Human immunodeficiency virus (HIV)CoxsackievirusEchovirusInfluenza virusEpstein-Barr virusHerpes simplex virusFungal infections can include Aspergillus fumigatus.Vaccinations may include the following:Influenza triple-antigen vaccineTyphoid-paratyphoid A and B (TAB) vaccinePolio vaccinePregnancy-associated HUS occasionally develops as a complication of preeclampsia. Patients may progress to full-blown haemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome. Postpartum HUS usually occurs within 3 months of delivery. The prognosis is poor, with a 50-60% mortality rate, and residual renal dysfunction and hypertension occur in most patients.

Breath-holding spells are usually caused by either a change in the child’s breathing or a slowing of the heart rate. In some children, breath-holding spells may be related to iron deficiency anaemia, a condition in which the body doesn’t produce a normal number of red blood cells. Conclusion: Not only Iron deficiency anaemia but also iron deficiency alone without anaemia is associated with a risk of high-frequency cyanotic breath holding spells. Iron therapy results in reduction in spells’ frequency which was correlated with increasing ferritin and iron levels.

From the given scenario, the extraocular muscle affected in the child is superior oblique muscle. Point to remember:All of the extraocular muscles are supplied by the oculomotor nerve (3rd cranial nerve), except superior oblique (trochlear nerve/4th cranial nerve) and lateral rectus (abducens nerve/6th cranial nerve).The superior oblique muscle causes the eye to move downwards and medially. The unopposed inferior oblique, in this case, causes the eye to deviate upwards and medially. Children tend to tilt their head (torticollis) to the side opposite to the affected eye with their chin down toward the shoulder, and their face turned away from the affected side to decrease the diplopia.

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.

Haematuria and abdominal swelling may indicate either polycystic kidney disease or a tumour. Because of the patient’s age, the likelihood of a tumorous growth is small, thus an ultrasound is the best choice for this case.

Answer: LaparoscopyThe diagnostic accuracy of laparoscopy for impalpable testis is well recognized. Approximately 20% of undescended testes are truly impalpable, and laparoscopy is actually regarded as the gold standard for their localization| none of the currently available imaging techniques (ultrasound, computerized tomography, or magnetic resonance imaging) has proven to be 100% reliable in predicting the presence or absence of a testis.In this respect, not only can laparoscopy be considered the most reliable tool to provide information on the location of the testis but also to confirm its absence.Undescended testes in boys is a very common congenital abnormality in which one or both testes does not reach the bottom of the scrotum prior to birth. The incidence of the condition is 3–5% among all boys at birth, and decreases to 0.8–1% after 6 months of age.Males with undescended testes have a lower sperm count, poorer quality sperm, and lower fertility rate, compared to males whose testicles descend normally| the rate of subfertility increases with bilateral involvement and increasing age at the time of orchidopexy.

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.

The child has symptoms and signs suggestive of an inflammatory arthropathy. This is why he should firstly be referred for an eye exam to exclude iritis or treat it if present. – Amblyopia is not directly associated with inflammatory arthropathies unless they had recurrent ocular involvement.- Blepharitis is not an associated finding in a child with inflammatory arthropathy.- Episcleritis may occur, and is often non-sight threatening, and therefore would not be the main cause for concern.- Optic neuropathy in juvenile inflammatory arthritis has been reported, although it is rare.

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.

While the clinical scenario and the anosmic presentation of the child are highly suggestive of Kallmann’s syndrome, reduced testosterone, FSH and LH levels can confirm the diagnosis.Kallman’s syndrome is a recognised cause of delayed puberty secondary to hypogonadotropic hypogonadism. It is usually inherited as an X-linked recessive trait. Kallman’s syndrome is thought to be caused by a failure of GnRH-secreting neurons to migrate to the hypothalamus.Clinical features of Kallmann’s syndrome include:- Delayed puberty- Hypogonadism, cryptorchidism- Anosmia- Low sex hormone levels – Inappropriately low/normal LH and FSH levels- Some patients can present with associated cleft lip/palate and visual/hearing defects.