Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene. These cases occur in people with no history of the disorder in their family.The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta).Associations include:Tall statureLearning disability (50%)Lens subluxation (usually upwards)Femoral herniaHemivertebraeCardiac problems (Aortic/mitral regurgitation, aneurysms)Joint hypermobilityArachnodactyly

Myelomeningocele is the most common type of open neural tube defect and a serious central nervous system disorder associated with significant morbidity. It is also called open spina bifida since the dura, and arachnoid matter herniates through the defect in the vertebral column. The commonest association is the decreased folate levels during early pregnancy. The alpha-fetoprotein levels are raised in the amniotic fluid. CSF leak is a common presentation with associated macrocephaly and hydrocephaly. Prenatal surgical repair is linked to a better prognosis.

The characteristic cells in granulomatous inflammation are giant cells, formed from merging macrophages and epithelioid cells elongated with granular eosinophilic cytoplasm. Granulomatous reactions are seen in patients with tuberculosis. A tuberculous/caseating granuloma is characterised by a zone of central necrosis lined with giant multinucleated giant cells (Langhans cells) and surrounded by epithelioid cells, lymphocytes and fibroblasts. The caseous zone is present due to the damaged and dead giant cells and epithelioid cells.
Mast cells are only few in number and fibroblasts lay down collagen.
Basophils are not present.
The giant cell made up of macrophages are the most abundant cells in this inflammatory process.

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.

Answer: Congenital diaphragmatic herniaCongenital diaphragmatic hernia (CDH) occurs when the diaphragm muscle — the muscle that separates the chest from the abdomen — fails to close during prenatal development, and the contents from the abdomen (stomach, intestines and/or liver) migrate into the chest through this hole.Examination in infants with congenital diaphragmatic hernias include the following findings:Scaphoid abdomenBarrel-shaped chestRespiratory distress (retractions, cyanosis, grunting respirations)In left-sided posterolateral hernia: Poor air entry on the left, with a shift of cardiac sounds over the right chest| in patients with severe defects, signs of pneumothorax (poor air entry, poor perfusion) may also be foundAssociated anomalies: Dysmorphisms such as craniofacial abnormalities, extremity abnormalities, or spinal dysraphism may suggest syndromic congenital diaphragmatic herniaIleal atresia is a congenital abnormality where there is significant stenosis or complete absence of a portion of the ileum. There is an increased incidence in those with chromosomal abnormalities. Ileal atresia results from a vascular accident in utero that leads to decreased intestinal perfusion and subsequent ischemia a segment of bowel. This leads to narrowing, or in the most severe cases, complete obliteration of the intestinal lumen. In the postnatal period, an abdominal radiograph will show air in the dilated loops of proximal bowel. An ileal atresia is often discovered prenatally at a routine prenatal ultrasound scan or following the development of polyhydramnios. On ultrasound, there is frequently a proximal dilated intestinal segment.Meconium Ileus (MI) is a condition where the content of the baby’s bowel (meconium) is extremely sticky and causes the bowel to be blocked at birth. In most cases the bowel itself is complete and intact but it is just the inside that is blocked.In some cases there has been a twist of the bowel before birth, which has caused the bowel to be blind ending (an atresia). Most babies with meconium ileus (90%) have Cystic Fibrosis (CF) and it is this that has caused the sticky meconium. Meconium ileus is a rare condition affecting only 1 in 25,000 babies. There is normally a delay in your baby passing meconium (black sticky stool normally passed within 24 hours of delivery) and your baby may also be reluctant to feed and may vomit a green fluid called bile which would normally pass through the bowel.Your baby may be uncomfortable because of constipation and trapped air in the bowel and the abdomen (tummy) will become distended. Some babies present at delivery with a distended abdomen and may be unwell due to infection around the bowel.Pyloric stenosis is a problem that affects babies between birth and 6 months of age and causes forceful vomiting that can lead to dehydration. It is the second most common problem requiring surgery in new-borns. The lower portion of the stomach that connects to the small intestine is known as the pylorus. In pyloric stenosis, the muscles in this part of the stomach enlarge, narrowing the opening of the pylorus and eventually preventing food from moving from the stomach to the intestine.

Celiac disease has characteristic shortened intestinal villi. When patients with celiac disease eat products containing gluten, they are unable to absorb the nutrients due to flattened or shortened intestinal villi. The blistering rash present on the patient’s elbows strongly suggests celiac disease. This rash is a sign of the condition Dermatitis Herpetiformis which is associate with celiac disease. Therefore, it is also often called ‘gluten rash’.

According to APLS, your next step should be one of the following: synchronous DC shock, amiodarone, or cardiology advice for alternative antiarrhythmics.

The most probable diagnosis for this patient is Maple syrup urine disease (MSUD).Note:- Healthy new-borns have blood sugars between 3.3 and 5 mmol/L- Neonatal hypoglycaemia is glucose < 2.2 mmol/L if measured in the first 3 days of life.- Neonatal hypoglycaemia is glucose < 2.5 mmol/L after the first 3 days of life.Causes of persistent hypoglycaemia include:- Preterm- IUGR- SGA- Hyperinsulinism due to maternal diabetes- Beckwith-Wiedemann syndrome- Hypoxia at birth- Sepsis- Cardiopulmonary disease- Inborn errors of metabolism- Hepatic enzyme deficiencies- Glycogen storage disease

Congenital cytomegalovirus infection causes: jaundice, hepatosplenomegaly, petechia, microcephaly, hearing loss and seizures.

This child is experiencing delayed speech. By the age of 2, a child should be able to combine at least 2 words to make a very simple sentence.

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.

Congenital hypothyroidism is one of the most important diseases of the new-born, which may lead to mental and physical retardation when treatment is delayed or an appropriate dosage of thyroxine is not administered. The most alarming and earliest sign is jaundice, especially when it is prolonged, during the neonatal period.

Neuroanatomically, the frontal lobe is the largest lobe of the brain lying in front of the central sulcus. It is divided into 3 major areas defined by their anatomy and function. They are the primary motor cortex, the supplemental and premotor cortex, and the prefrontal cortex. Damage to the primary motor, supplemental motor, and premotor areas lead to weakness and impaired execution of motor tasks of the contralateral side. The inferolateral areas of the dominant hemisphere are the expressive language area (Broca area, Brodmann areas 44 and 45), to which damage will result in a non-fluent expressive type of aphasia.

Ideally, the test is done in the first 4 to 5 weeks, but it can be done at up to 3 months of age.The identification of all new-borns with hearing loss before age 6 months has now become an attainable realistic goal. In the past, parents and paediatricians often did not suspect a hearing loss until the age of 2-3 years, after important speech and language milestones have not been met. By the time these milestones are missed, the hearing-impaired child has already experienced irreversible delays in speech and language development.

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.

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.

The level of statistical significance is often expressed as a p-value between 0 and 1. The smaller the p-value, the stronger the evidence that you should reject the null hypothesis.A p-value less than 0.05 (typically ≤ 0.05) is statistically significant. It indicates strong evidence against the null hypothesis, as there is less than a 5% probability the null is correct (and the results are random). Therefore, we reject the null hypothesis, and accept the alternative hypothesis.However, this does not mean that there is a 95% probability that the research hypothesis is true. The p-value is conditional upon the null hypothesis being true is unrelated to the truth or falsity of the research hypothesis.A lower p-value is sometimes interpreted as meaning there is a stronger relationship between two variables. However, statistical significance means that it is unlikely that the null hypothesis is true (less than 5%).To understand the strength of the difference between two groups (control vs. experimental) a researcher needs to calculate the effect size.

Inhaled objects are more likely to enter the right lung for several reasons. First the right bronchus is shorter, wider and more vertical than the left bronchus. Also, the carina (a ridge-like structure at the point of tracheal bifurcation) is set a little towards the left. The terminal bronchiole is a very small space and impossible for the seed to lodge here.

Hypopigmentation is a side-effect that is more likely to be due to eczema rather than topical steroids therapy.All the options provided are potential side-effects of topical steroid therapy. They are observed when the potency of the steroid used is too high, or the amount of drug used is too much.. FTU or fingertip unit application is what is recommended, with caution, in delicate areas such as the face. Hypopigmentation can occur in eczema and is a post-inflammatory response, in contrast to the total depigmentation which is seen in vitiligo. Chronic eczema causes lichenification of skin, where the epidermis is thickened, and not skin atrophy.

Cluster headaches present with unilateral severe headache that may be associated with ipsilateral cranial autonomic symptoms including| lacrimation, rhinorrhoea, ophthalmic injection, and occasionally, Horner syndrome (ipsilateral miosis, ptosis, and facial anhidrosis).

In the Hirschberg test, the corneal reflex should fall in the same place in both eyes. If there is a malalignment then the reflection of the light will appear in different places in the two eyes. The cover test is then used to differentiate between a latent deviation, or a manifest deviation.In the Bruckner test, the direct ophthalmoscope is used to obtain a red reflex simultaneously in both eyes. If strabismus is present, the deviated eye will have a lighter and brighter reflex than the fixating eye.The swinging flashlight test is a test of the pupils response to light, and to check for a relative afferent pupillary defect (RAPD).The Angle Kappa test measures the angle between the line of sight and the corneal-pupillary axis. It is a monocular measurement.

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

Several types of right-sided aortic arch exist, the most common ones being right-sided aortic arch with aberrant left subclavian artery and the mirror-image type. The variant with aberrant left subclavian artery is associated with congenital heart disease in only a small minority of affected people. The mirror-image type of right aortic arch is very strongly associated with congenital heart disease, in most cases tetralogy of Fallot. A right-sided aortic arch does not cause symptoms on itself, and the overwhelming majority of people with the right-sided arch have no other symptoms. However when it is accompanied by other vascular abnormalities, it may form a vascular ring, causing symptoms due to compression of the trachea and/or oesophagus.

Pyloric stenosis affects infants, typically in the second to fourth weeks of life and is caused most commonly by hypertrophy and thickening of the pylorus. It usually presents with projectile vomiting and failure to thrive. The infant usually has a normal appetite. Features include: ‘projectile’ vomiting, typically 30 minutes after a feed, constipation and dehydration may also be present and a palpable mass may be present in the upper abdomen.

Recurrent bacterial infections may be due to lack of B-cell function, consequently resulting in a lack of gamma globulins production. Once the maternal antibodies have depleted, the disease manifests with greater severity and is called x-linked agammaglobulinemia also known as ‘X-linked hypogammaglobulinemia’, ‘XLA’ or ‘Bruton-type agammaglobulinemia. it is a rare x linked genetic disorder that compromises the bodies ability to fight infections.
Acute leukaemia causes immunodeficiency but not so specific.
DiGeorge syndrome is due to lack of T cell function.
Aplastic anaemia and EBV infection does not cause immunodeficiency.

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.

Epiglottitis is characterized by the abrupt onset of severe symptoms. Without airway control and medical management, symptoms may rapidly progress to respiratory obstruction and death in a matter of hours.Usually, no prodromal symptoms occur in children. Fever is usually the first symptom, and temperatures often reach 40°C. Acute epiglottitis may result in sudden, complete upper airway obstruction. Classic signs in children are four D’s: drooling, dyspnoea, dysphagia, and dysphonia.

Torsade de pointes is an uncommon and distinctive form of polymorphic ventricular tachycardia (VT) characterized by a gradual change in the amplitude and twisting of the QRS complexes around the isoelectric line.Conditions associated with torsade include the following:Electrolyte abnormalities – Hypokalaemia, hypomagnesemia, hypocalcaemiaEndocrine disorders – Hypothyroidism, hyperparathyroidism, pheochromocytoma, hyperaldosteronism, hypoglycaemiaCardiac conditions – Myocardial ischemia, myocardial infarction, myocarditis, bradyarrhythmia, complete atrioventricular (AV) block, takotsubo cardiomyopathyIntracranial disorders – Subarachnoid haemorrhage, thalamic hematoma, cerebrovascular accident, encephalitis, head injuryNutritional disorders – Anorexia nervosa, starvation, liquid protein diets, gastroplasty and ileojejunal bypass, celiac diseaseRisk factors for torsade include the following:Congenital long QT syndromeFemale genderAcquired long QT syndrome (causes of which include medications and electrolyte disorders such as hypokalaemia and hypomagnesemia)BradycardiaBaseline electrocardiographic abnormalitiesRenal or liver failure

Among the given options, the most likely cause for the patient’s presenting symptoms is acute interstitial nephritis secondary to anti-tubercular therapy (ATT)Drug-induced acute interstitial nephritis can occur following treatment with beta-lactams, sulphonamides, rifampicin, ethambutol, and erythromycin. They can cause an acute allergic reaction with the infiltration of immune cells.Acute interstitial nephritis is said to be the most common renal complication in patients undergoing anti-TB treatment. Rifampicin is the most implicated drug, although ethambutol can also be a cause. The pathogenesis involves an immune-complex mediated acute allergic response, which leads to their deposition on renal vessels, the glomerular endothelium, and the interstitial area. Other options:Isoniazid does not affect the kidneys. Pulmonary-renal syndrome is a feature of Goodpasture’s syndrome. It is characterized by renal failure and lung haemorrhage. Severe cardiac or renal failure ensues and is complicated by pulmonary oedema, systemic lupus erythematosus, Henoch-Schönlein purpura, and cryoglobulinemia.

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.