Infection of chickenpox in the first half of pregnancy can result in congenital varicella syndrome. It presents as cerebral, cortical and cerebellar hypoplasia with convulsions and rudimentary digits. Prevention is by administering varicella vaccine, even before pregnancy. Varicella immunoglobulin is administered to pregnant women who are exposed to infection. Infection during pregnancy is treated with acyclovir.

Adenoid tissue sometimes swell as a result of fighting off the infection as germs are trapped in the adenoids. Adenoid enlargement is suspected.

The sinus venosus is a large quadrangular cavity which precedes the atrium on the venous side of the chordate heart. It exists distinctly only in the embryonic heart (where it is found between the two venae cavae); however, the sinus venosus persists in the adult. In the adult, it is incorporated into the wall of the right atrium to form a smooth part called the sinus venarum, which is separated from the rest of the atrium by a ridge of fibres called the crista terminalis. The sinus venosus also forms the SA node and the coronary sinus.

Diabetes insipidus (DI) is defined as the passage of large volumes (>3 L/24 hr) of dilute urine (< 300 mOsm/kg). It has the following 2 major forms:Central (neurogenic, pituitary, or neurohypophyseal) DI, characterized by decreased secretion of antidiuretic hormone (ADH; also referred to as arginine vasopressin [AVP])Nephrogenic DI, characterized by decreased ability to concentrate urine because of resistance to ADH action in the kidney.The boy most probably has nephrogenic diabetes insidious (DI) not central DI so he is not responding to the ADH treatment.

Jaundice in a new-born on the day of delivery is most likely due to Rh incompatibility. This occurs when the mother is Rh-negative and the baby is Rh-positive. Antibodies in the mother against the Rh factor in the baby will destroy the red blood cells in the baby, increasing the bilirubin in the blood. Breast milk jaundice and Galactosemia do not occur immediately after birth, and congenital rubella syndrome and formula feeding does not cause jaundice in babies.

Mild learning disabilities indicates an IQ = 50-70, or mental age of 9-12 years ˘ Moderate learning disabilities indicates an IQ = 35-49, or mental age of 6-9 years ˘ Severe learning disabilities indicates an IQ = 20-34, or mental age of 3-6 years ˘ Profound learning disabilities indicates an IQ = 20, or mental age of less than 3 years ˘ Average IQ is 100. The arbitrary cut-off to indicate learning disabilities is 70.

The most probable diagnosis in this patient is lead poisoning.Lead poisoning: While it is not common, it can be potentially fatal. One of the key presenting features here is pica, the ingestion of non-nutritive substances such as soil, soap, paper or wood. Pica can also be observed in children in iron-deficiency anaemia, developmental delay and pregnancy. However, in a child who is exposed to lead in their environment (e.g. from lead paint or pipes), lead poisoning is most likely. It is commonly associated with iron deficiency which in turn increases the lead absorption. Treatment is either with oral D-penicillamine or intravenous sodium calcium edetate.

The most probable diagnosis for this patient would be Crohn’s disease.Crohn’s disease:An inflammatory bowel disease which can affect any part of the bowel from the mouth to the anus. Symptoms include abdominal pain, diarrhoea, pyrexia and weight loss. Extra-intestinal manifestations include arthritis, uveitis, fatigue, anaemia and rashes including pyoderma gangrenosum and erythema nodosum.Other options:- Anorexia nervosa is an important diagnosis to consider. There are no indicators in the description that she has a fear of gaining weight or a strong desire to be thin.- Diabetic ketoacidosis is incorrect because there is no polydipsia or polyuria. A patient in DKA is more likely to present with vomiting and not diarrhoea.- Recurrent aphthous stomatitis is not a correct answer because it does not explain all of the symptoms described, only the mouth ulcers.- Ulcerative colitis (UC) is also incorrect. UC is a form of inflammatory bowel disease that causes inflammation in the colon. The main symptom is bloody stools, which is not mentioned as a feature in history.

The patient history suggests a spontaneous tension pneumothorax which is a life-threatening situation in which excess air is introduced into the pleural space surrounding the lung. When there is a significant amount of air trapped in the pleural cavity, the increasing pressure from this abnormal air causes the lung to shrink and collapse, leading to respiratory distress. This pressure also pushes the mediastinum (including the heart and great vessels) away from its central position, e.g. deviated trachea, and diminishing the cardiac output. Tension pneumothoraxes cause chest pain, extreme shortness of breath, respiratory failure, hypoxia, tachycardia, and hypotension. These are definitively managed by insertion of a chest tube. However, in the emergency setting temporizing measures are needed while chest tube materials are being gathered. In these situations, urgent needle thoracostomy (also called needle decompression) is performed.

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.

Chickenpox is caused by the varicella-zoster virus. The clinical signs of infection are fever and a maculopapular rash – this is a unique rash with both flat and raised lesions on the skin.

Congenital heart defects are common (40-50%); they are frequently observed in patients with Down syndrome who are hospitalized (62%) and are a common cause of death in this aneuploidy in the first 2 years of life.The most common congenital heart defects are the following:- Endocardial cushion defect (43%), which results in atrioventricular septal defect (AVSD)/AV canal defect- Ventricular septal defect (32%)- Secundum atrial septal defect (10%)- Tetralogy of Fallot (6%)- Isolated patent ductus arteriosus (4%).About 30% of patients have more than one cardiac defect. The most common secondary lesions are patent ductus arteriosus (16%), atrial septal defect, and pulmonic stenosis (9%). About 70% of all endocardial cushion defects are associated with Down syndrome.Valve abnormalities, such as mitral valve prolapse or aortic regurgitation may develop in up to 40-50% of adolescents and adults who were born without structural heart disease.

Stridor is a sign of upper airway obstruction. One of the most common causes of stridor in children is laryngomalacia. In the absence of laryngomalacia, stridor presenting with respiratory distress, few chest signs and no preceding coryza symptoms or fever all point to the inhalation of a foreign object. This is common in children, with a peak incidence between 1 and 2 years of age. This child did not present with a high temperature, usually indicative of epiglottitis . The incidence of epiglottis has decreased due to the H. Influenza type b vaccine. Additionally viral croup and bronchiolitis present with upper respiratory tract infection. Asthma rarely presents with stridor but is rather associated with a wheeze.

Urine culture and sensitivity is used to diagnose a urinary tract infection (UTI). A mid-stream clean catch urine sample is the most common type of sample collected. It is important to follow the clean catch process to have accurate results from an uncontaminated sample. Urine cultures can also check for infections of the bladder or kidney.

Marfan syndrome is a disorder that affects the connective tissue found throughout the body, Marfan syndrome can affect many systems, often causing abnormalities in the heart, blood vessels, eyes, bones, and joints. The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and aortic root disease, leading to aneurysmal dilatation, aortic regurgitation and dissection is the main cause of morbidity and mortality in Marfan syndrome.

People with Systemic Juvenile Idiopathic Arthritis (also known as Stills disease) can have recurrent fevers, a macular rash, joint pain, joint deformities, an enlarged liver and/or spleen, and can occasionally have polyserositis, lung involvement or pericardial effusions. Rheumatoid factor and antinuclear antibodies are usually negative. Treatment is with non-steroidal anti-inflammatory drugs (NSAIDs) and the prognosis is better than for adult rheumatoid arthritis.In pauciarticular Still’s disease, antinuclear antibodies are present. Large joints are affected and most patients develop classic features of seronegative spondylarthritis.

A lymphangioma is a swelling or mass that occurs mainly in the head, neck, and mouth. Lymphangiomas are the result of a congenital condition and are usually apparent at birth, or at least by the time a person is 2 years old. It is rare in adult population and when detected, it can be treated with surgical excision. Branchial cyst in most cases does not transilluminate which lymphangioma does.

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.

Patients with breast cancer develop clinical symptoms rather late at advanced tumour stages. Typical signs may include:Changes in breast size and/or shape; asymmetric breastsPalpable mass: typically a single, nontender, firm mass with poorly defined margins, most commonly in the upper outer quadrantSkin changes: Retractions or dimpling (due to tightening of the Cooper ligaments), Peau d’orange: skin resembling an orange peel (due to obstruction of the lymphatic channels): Redness, oedema, and pitting of the hair folliclesNipple changes: inversion, blood-tinged dischargeAxillary lymphadenopathy: firm, enlarged lymph nodes (> 1 cm in size), that are fixed to the skin or surrounding tissueIn advanced stages: ulcerations

Based on the clinical scenario, the boy is going through normal pubertal changes.In the 3 years before puberty, low pulsatile LH levels become detectable during sleep. LH and FSH are produced in the anterior pituitary and released due to pulsatile gonadotrophin-releasing hormone (GnRH) secreted by the hypothalamus. There is an increase in the amplitude and frequency of LH secretion as puberty approaches, which causes enlargement of the gonads. In boys, the testicles produce testosterone, and in girls, the ovaries produce oestradiol and ovarian androgens, which, with the adrenal androgens, produce secondary sexual characteristics.Note:The average age at onset of puberty is 11 years in girls. The first sign is breast bud development, followed by the appearance of pubic hair 6-12 months later. Menarche usually occurs 2-2.5 years after breast bud development. Peak height velocity in girls occurs at breast stage 2-3 and virtually always precedes menarche. The onset of puberty in boys is at 11.5 years. The first sign is testicular enlargement (>3 ml) and thinning of the scrotum. This is followed by the pigmentation of the scrotum and growth of the penis, and pubic hair follows. Peak height velocity (growth spurt) is two years later in boys than in girls and occurs at testicular stage 4-5 (i.e. testicular volume 10-12 ml), which is around 13-14 years of age. Breast enlargement occurs in 40-60% of boys (rarely, significant enough to cause social embarrassment in 10%) and is a result of oestradiol produced by the metabolism of testosterone. It usually resolves within three years. During puberty, elongation of the eye often occurs, causing short-sightedness.

If the 95% confidence interval contains zero (more precisely, the parameter value specified in the null hypothesis), then the effect will not be significant at the 0.05 level.If the 95% CI for the DIFFERENCE between the 2 groups contains the value 0, this means that the p-value will be greater than 0.05. Conversely, if the 95% CI does not contain the value 0, then the p-value will be strictly less than 0.05. The same applies when comparing groups using a ratio, such as an odds ratio or risk ratio. When using a RATIO instead of a DIFFERENCE, the situation of no difference between the 2 groups will be indicated by a value of 1 instead of 0. If the ratio equals to 1, the 2 groups are equal. Hence, if the 95% CI of the ratio contains the value 1, the p-value will be greater than 0.05. Alternatively, if the 95% CI does not contain the value 1, the p-value is strictly less than 0.05.

Ichthyosis vulgaris presents clinically with xerosis, hyperkeratosis, excess scaling, keratosis pilaris, and palmar and plantar hyperlinearity. It most commonly affects the extensor surfaces of the limbs and spares flexor surfaces, the face, and the neck.

These cardiovascular findings are suggestive of coarctation of the aorta, which is common among patients with Turner’s syndrome. Physical features of Turner’s syndrome include a short neck with a webbed appearance, a low hairline at the back of the head, low-set ears, and narrow fingernails and toenails that are turned upward.Atrioventricular septal defect is the most common cardiac anomaly in Down’s syndrome. Structural heart defects at birth (i.e., ventricular septal defect, atrial septal defect, patent ductus arteriosus) are common in Edward’s syndrome. Pulmonary stenosis with or without dysplastic pulmonary valve and hypertrophic cardiomyopathy are common in Noonan’s syndrome. Supravalvar aortic stenosis and peripheral pulmonary stenosis are found in William’s syndrome.

Arnold-Chiari malformation type II is one of the congenital hindbrain abnormalities that leads to a disruption of the relationship between different hindbrain structures. It is characterized by congenital hydrocephalus, herniation of cerebellar tonsils into the pinal canal with an enlarged 4th ventricle, spina bifida associated with myelomeningocele, and various levels of denervation atrophy of the muscles of the lower limb. The association of type II Arnold-Chiari with myelomeningocele carries importance from an etiological perspective, forming the basis of CSF escape theory.

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.

Carbon monoxide is a colourless gas, which is toxic to animals. It has a high affinity for haemoglobin (around 250 times greater than oxygen). It combines with haemoglobin forming carboxyhaemoglobin, which decreases the oxygen-carrying capacity of the blood, leading to a left-shift in the oxygen-dissociation curve. CO is produced endogenously in limited amounts (0.4ml per hour), but the toxic levels are higher.

Inguinal hernias are a common surgical condition in preterm male infants. Surgical repair is usually suggested shortly after birth due to a fear of incarceration or strangulation. These hernias are often indirect as they pass though the processes vaginalis, rather than the posterior wall of the inguinal canal. Recurrence of the hernia is the most common post operative complication. While other complications can occur if left un-repaired, hydrocele and testicular atrophy are not as common, neither is spontaneous resolution.

Intussusception causes abdominal pain leading to painful lower GI bleeding. Intussusception is a condition in which part of the intestine folds into the section next to it. It most commonly involves the small bowel and rarely the large bowel. Intussusception doesn’t usually require surgical correction. 80% of cases can be both confirmed and reduced using barium, water-soluble or air-contrast enema.However, up to 10% of cases can experience recurrence within 24 hours after reduction, warranting close monitoring during this period.Most children have self-limiting and minor bleeds. However, children with massive bleeds will need emergency care and stabilisation.The various causes of lower GI bleeding in neonates include:- Anal fissures- Milk protein or soy allergy- Intussusception- Volvulus- Coagulopathies including haemorrhagic disease of the new-born- Arteriovenous malformations- Necrotising enterocolitis- Hirschsprung enterocolitis- Meckel’s diverticulitis- Drugs (NSAIDs, heparin, indomethacin used for patent duct closure, dexamethasone)The various causes of lower GI bleeding in children aged between 1 month to 2 years include:- Infection- Anal fissures- Intussusception- Malrotation with volvulus- Milk protein or soy allergy- Polyp- Meckel’s diverticulum- Duplication cyst- Foreign body- AV malformation- Colitis of immune deficiency- Tumour- HaematomaThe causes of lower GI bleeding in children older than 2 years include:- Polyp- Inflammatory bowel disease (IBD)- Infectious diarrhoea (caused by Escherichia coli and Shigella)- Intussusception- Haemangiomas- Arteriovenous malformations- Vasculitis- Tumour

The most likely cause of microcephaly in an asymptomatic 3-year-old child is congenital rubella syndrome.Microcephaly is defined as head circumference > two standard deviations below the mean.The causes of microcephaly include:- Genetic disorders: Down syndrome, Edward syndrome, Patau syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome.- Infective: Meningitis, toxoplasmosis, CMV, rubella, varicella, HIVand Zika.- Acquired causes: Severe brain malformations, neurodegenerative diseases, hypoxic-ischemic injury, infarction, antenatal exposure to drugs, alcohol, and other toxins. Severe malnutrition and uncontrolled phenylketonuria in the mother are other causes of microcephaly in children.- Craniosynostosis- Neurometabolic disorders- Early non-accidental trauma- Fanconi anaemia- Other causes include: Familial and nonfamilial nonsyndromic microcephalyMost children with microcephaly have one or several associated symptoms:- Developmental delay- Seizures- Visual abnormalities- Short stature

Gait variations in children are usually physiologically normal and only become a cause of concern when they persist or are associated with pain or other medical symptoms. Genu varus, also known as knock knees causes an outward rotation of the leg, leading the toes pointing outwards. The condition usually resolves by the age of 18 months. In comparison, in- toeing occurs with genu varus. Metatarsus adductus is also associated with an inward pointing of the toes.