Coarctation of the aorta is one of the serious forms of congenital heart diseases Occurring in about 1 in 2,500 births. It is characterized by a congenitally narrowed proximal thoracic aorta. Coarctation can occur in isolation but can accompany other cardiac lesions, including a bicuspid aortic valve in 70% of the cases and berry aneurysms in 10% of the cases. Coarctation of the aorta is commonly found in association with Turner’s syndrome, Edward’s syndrome, and Patau syndrome.

The x-ray is suggestive of bronchiectasis. The most probable aetiology especially considering recurrent chest infections at such a young age is cystic fibrosis.

Celiac disease is classified as a Type IV hypersensitivity mediated by T-cell response. Negatively charged gliadin has been shown to induce interleukin 15 in the enteric epithelial cells, stimulating the proliferation of the natural killer cells and intraepithelial lymphocytes to express NK-G2D, a marker for natural killer T lymphocytes.

Atopic dermatitis is an allergic condition which is more apparent in those children who have a positive family history in their 1st or 2nd degree relatives. In some cases, there might be a positive history of bronchial asthma. The best treatment option in this case would be topical application of 1% hydrocortisone ointment to the affected areas of the child. We cannot prescribe a strong ointment to the face because it may lead to skin atrophy, telangiectasia and other steroid related topical complications.

From the given clinical scenario, the peroxisomal disorder in question is Refsum’s disease.It is characterised by anosmia, early-onset retinitis pigmentosa (night blindness), chronic ataxia, variable neuropathy, deafness and ichthyosis. It is an inherited disorder of fatty acid oxidation with phytanic acid accumulation in the blood and tissues. This leads to the motor and sensory neuropathy. Other options:- Loss of sensation in extremities, dysarthria and diabetes is suggestive of Friedrich’s Ataxia. It is the most common autosomal recessive cause of ataxia. Associated features include dysarthria, scoliosis, diabetes and hypertrophic cardiomyopathy. – Numbness of the limbs, seizures and developmental delay suggests mitochondrial cytopathy such as NARP (Neuropathy, Ataxia and Retinitis Pigmentosa). Learning difficulties, developmental delays and convulsions are not uncommon, as with many mitochondrial disorders. – Rapid, chaotic eye movements, behaviour change and irritability, suggest opsoclonus-myoclonus syndrome. It is thought to be a Para infectious or paraneoplastic condition (secondary to neuroblastoma) linked to an abnormal immune response. Children present unwell with altered behaviour, irritability, ataxia, random chaotic eye movements and later myoclonus. – Sweet-smelling urine, lethargy and seizures suggest Maple Syrup Urine Disease (MSUD). It is an autosomal recessive organic acidaemia. There is a distinct sweet odour to the urine of affected individuals, particularly at times of acute illness. Without treatment, MSUD can lead to seizures, brain damage, coma and death. The most common and classic form affects babies shortly after birth, but variant forms may not be evident until later childhood.

The most probable diagnosis for this child would be rheumatic fever due to a previous history of rheumatic fever, evidence of streptococcal disease from a throat swab, a raised ASO titre and a positive streptococcal antigen test or a leukocytosis.Acute Rheumatic Fever:ARF occurs because of an abnormal immune response to a streptococcal antigenic component. It has a latent period of 1–3 weeks and is more common in the lower socio-economic classes. It peaks at around 5–15 years of age and affects the blood vessels, joints, nervous system and subcutaneous tissues. It is characterised as an autoimmune disease, and there is a risk of rheumatic fever occurring after infection in 3% of the population. The recurrence is greater in younger children and increases with each attack. Duckett-Jones criteria:The diagnostic criteria for acute rheumatic fever.Major: – Pancarditis- Chorea (Sydenham’s) – Polyarthritis (flitting)- Erythema marginatum- Subcutaneous nodulesMinor criteria include the presence of arthralgia, fever, prolonged PR interval, raised ESR, raised CRP.Note that:To make the diagnosis of rheumatic fever: Two major and/or one major with two minor criteria are required. Evidence of a recent streptococcal infection with a raised ASO titre or an antiribonuclease B level is sufficient. Exceptions to this rule are mentioned below:- Chorea alone is diagnostic.- Insidious or late-onset carditis with no other explanation.- Rheumatic recurrence: The presence of one major and one minor criterion with a prior streptococcal disease that is recurring.Consequences of pericarditis include heart block, pericardial effusion, tachycardia, cardiomegaly, pericardial friction rub, congestive cardiac failure, valvular disease and a Carey–Coombes apical mid-diastolic rumbling murmur.New heart murmurs are often audible, including those of mitral regurgitation and aortic regurgitation. Skin nodules affect the perivascular tissues and are non-specific lesions resulting from fibroid degeneration.Management:Medication includes aspirin for the acute phase, non-steroidal anti-inflammatory drugs for arthritis, prednisolone for severe carditis, and high-dose penicillin for immediate management with antibiotic prophylaxis in the long term. Antibiotics may include penicillin V, erythromycin or benzylpenicillin. Diazepam and haloperidol may be required to control the chorea.

A local exam might not help in locating the cause of the bleeding because it might be underneath the superficial structures. A thorough examination should be done under GA to accurately locate the source of bleeding.

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. Foetal hydrops, developmental dysplasia of the hip and, macrosomia lead to polyhydramnios. Cleft palate is not associated with any of them.

After birth, the infant takes its first breath and is exposed to a myriad of stimuli. The pulmonary vessels dilate, and pulmonary vascular resistance (PVR) decreases remarkably while the systemic vascular pressure rises above the PVR. This allows blood from the right ventricle to enter the lungs for oxygenation. In most cases, this increased oxygenation, along with other factors, causes the ductal wall to constrict and the ductus arteriosus to close functionally. As left-sided pressures rise higher than right-sided pressures, the foramen ovale functionally closes. With the clamping of the umbilical cord and the cessation of blood flow, pressures in the portal sinus decrease. This causes the muscle in the sinus wall near the ductus venosus to contract. The lumen of the duct becomes filled with connective tissue, and, in two months, the ductus venosus becomes a fibrous strand embedded in the wall of the liver, thus establishing adult circulation.

18-month-old milestonesSocial and EmotionalLikes to hand things to others as play May have temper tantrums May be afraid of strangers Shows affection to familiar people Plays simple pretend, such as feeding a doll May cling to caregivers in new situations Points to show others something interesting Explores alone but with parent close by Language/CommunicationSays several single words Says and shakes head “no” Points to show someone what he wants Cognitive (learning, thinking, problem-solving)Knows what ordinary things are for| for example, telephone, brush, spoon Points to get the attention of others Shows interest in a doll or stuffed animal by pretending to feed Points to one body part Scribbles on his own Can follow 1-step verbal commands without any gestures| for example, sits when you say “sit down” Movement/Physical DevelopmentWalks alone May walk up steps and run Pulls toys while walking Can help undress herself Drinks from a cup Eats with a spoon

Prader-Willi Syndrome is a genetic disorder that occurs when a chromosome from paternal chromosome 15q is deleted or unexpressed during the formation of the egg or sperm, or in embryonic development. Individuals usually inherit one copy of this gene from each parent, and in this case on the paternal gene remains active in parts of the brain and other organs. This phenomenon is known as genetic imprinting, and is also seen in Angelman’s syndrome. Symptoms seen in Prader-Willi range from poor muscle tone during infancy to developmental and cognitive delays. Many individuals suffer from hypogonadism that affects fertility in both males and females. In Angelman’s syndrome the maternal chromosome 15q is unexpressed. The condition is also called happy puppet syndrome as affected children present with a happy demeanour, ataxic gait, and flapping movements of the limbs.

In an acute and severe asthma attack the child cannot complete sentences in one breath because they are too breathless. The O2 saturation is less than 92% and PEF is between 33-50% best or predicted. In children that are 2-5 years old, HR is more than 140 bpm and more than 125 bpm in those older than 5 years old. The RR in children between 2-5 years old is more than 40/min, and more than 30/min in those older than 5 years old.

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

Patent ductus arteriosus is a heart defect that occurs in around 50% of the preterm or low birth weight infants. It is characterized by the failure of the fetal ductus arteriosus to close after birth. There are certain risk factors which predispose an infant to a patent ductus arteriosus. The most important risk factor is trisomy 21 or Down’s syndrome, which is associated with multiple cardiac defects. Other factors are congenital rubella syndrome, birth at high altitudes, and female gender.

The withdrawal and withholding of care has been reported in neonatology for over 30 years. ‘Withdrawal’ of life-saving treatment implies the elective discontinuation of ongoing life-supportive measures. ‘Withholding’ of treatment occurs when interventions necessary for immediate survival, such as surgical intervention or resuscitation (bag and mask/endotracheal ventilation, cardiac massage or adrenaline) are deliberately not administered.Withdrawal of treatment most commonly takes the form of withdrawing of ventilatory support. In the extremely premature neonate who has had poor response to bag and mask ventilation, this may mean stopping ventilation breaths, explaining to the parents the reason for discontinuation and offering comfort care according to the parents’ wishes. Parents should be prepared for the sequelae that may follow withdrawal from mechanical ventilation. The infant may become agitated secondary to hypoxia, display terminal gasping and, depending on the size and gestation of their infant, tachypnoea, intercostal recession or stridor may be evident. Parents may want to be involved in the extubation process. Following ventilator withdrawal, the length of time prior to death cannot be predicted and can be a significant cause of parental anguish if this is not explained. A side room and privacy should be made available for the family. NICE guidance suggests that women ‘should not be encouraged to hold their dead baby if they do not wish to’, although this is very much dependent on individuals.

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.

Due to breakdown of the red blood cell membrane in haemophilic patients, cholesterol crystals are formed by the lipids. On the other hand lipofuscin deposition does not occur in haemolysis or haemorrhage. Neutrophil accumulation suggests acute inflammation. Anthracotic pigment is an exogenous carbon pigment that deposits in the lung from dust. Russell bodies are intracellular accumulations of immunoglobins in plasma cells. Curschmann’s spirals and Charcot Leyden crystals are pathognomonic of asthma.

The baby needs more oxygen saturation which could be attempted by increasing the mean airway pressureAfter initial resuscitation and stabilization, the following should be the ventilator settings used:Rate: 30-40/minutePeak inspiratory pressure (PIP) – determined by adequate chest wall movement.An infant weighing less than 1500 grams: 16-28 cm H2O.An infant weighing greater than 1500 grams: 20-30 cm H2O. Positive end expiratory pressure (PEEP): 4 cm of H2O OR 5-6 cm if FiO2 > 0.90.FiO2: 0.4 to 1.0, depending on the clinical situation.Inspiratory time: 0.3-0.5 sec.After 15 to 30 minutes, check arterial blood gases and pH.If the PaO2 or the O2 saturation is below accepted standards, the FiO2 can be raised to a maximum of 1.0. If the PaO2 or O2 saturation is still inadequate, the mean airway pressure can be raised by increasing either the PIP, PEEP, inspiratory time or the rate, leaving inspiratory time constant.If the PaCO2 is elevated, the rate or peak inspiratory pressure can be raised.

In the pattern of mendelian inheritance, X- linked dominant inheritance means that all who inherit the X chromosome will present with the condition. In the case of maternal x-linked inheritance, sons and daughters have an equal chance of inheriting the condition as there is a 50% chance of inheriting the defective X chromosome from their mother as opposed to a non affected X chromosome from their father. However, in paternal X-linked dominant inheritance, sons will be unaffected as they inherit a Y chromosome from their father while daughters are sure to inherit the defective X-chromosome.

Kawasaki disease is an acute febrile illness of early childhood characterized by vasculitis of the medium-sized arteries. Diagnostic criteria include fever of at least 5 days duration along with 4 or 5 of the principal clinical features – extremity changes, polymorphous rash, oropharyngeal changes, conjunctival injection and unilateral nonpurulent cervical lymphadenopathy.

Vitamin A is a fat-soluble compound occurring in various forms. The RDA for 0-12 months old babies is 400-600micrograms/day. Most of the vitamin A is stored in the liver, making animal liver an excellent source of vitamin A. Vitamin A deficiency is characterized by the deposits of keratin in the conjunctiva, known as Bitot’s spots, keratomalacia, night blindness, and anaemia.Vitamin A toxicity or excess is characterized by hyperkeratosis, hypothyroidism, hypo/hyperpigmentation, etc.According to WHO guidelines, children under two years of age who develop measles should be given two additional doses of vitamin A supplementation 24 hours apart, which is necessary for preventing eye damage, blindness, and reducing mortality by 50%.

The thyroglossal duct cyst is the most common congenital anomaly of the central portion of the neck. The thyroglossal duct cyst is intimately related to the central portion of the hyoid bone and usually elevates along with the larynx during swallowing. Thyroglossal cysts can be defined as an irregular neck mass or a lump which develops from cells and tissues left over after the formation of the thyroid gland during the developmental stages.

The most appropriate action in this baby would be to perform HIV PCR and commence cART and PCP prophylaxis if HIV positive.Treatment guidelines for HIV-positive infants state that all should receive combination antiretroviral therapy (cART) and Pneumocystis jiroveci pneumonia (PJP) prophylaxis, irrespective of CD4 count or viral load.

Neurofibromatosis (aka Von Recklinghausen’s disease) includes: neurofibrosarcomas, pheochromocytoma, optic nerve tumours, scoliosis and acoustic neuromas.

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.

A 2 year old child who is developing normally should be able to point to three body parts, identify familiar objects in his environment such as a crayon or a toy and follow simple instructions.At 3 years old he should be able to copy a circle, jump up and down and name three colours.

Transient tachypnoea of the new-born (TTN) is the commonest cause of respiratory distress in new-borns and self-limiting. It can affect any new-born shortly after birth. Its most prominent feature is tachypnoea. Nasal flaring, grunting, or intercostal retractions may also be present.

Based on the clinical scenario, the most likely risk factor in this child to develop gallstones is sickle cell disease.Note:Haemolysis is the most frequent cause for gallstones in children and the likeliest cause because of his ethnicity would be sickle cell disease. The gallstones are pigmented which form from bilirubin. 70% of patients with sickle cell disease will develop gallstones| the prevalence of gallstones is related to the rate of haemolysis.Other options:- Gilbert’s syndrome: it is a common condition in which bilirubin glucuronidation (i.e. converting bilirubin into a water-soluble form) is affected. During times of stress (viral illness, fasting, etc.) there is an excess bilirubin production, and jaundice may develop. It is a benign condition but there is some evidence of an increased risk of developing gallstones. However, sickle cell disease is a more likely risk factor in this case.- Hereditary spherocytosis: Hereditary spherocytosis is a disease of the white population and is less likely to be the underlying cause in this case.- Male gender: After puberty, the incidence of gallstones is higher in women. Before puberty, the incidence is equal.- Obesity: Obesity is a risk factor for gallstones and is thought to be behind the rising incidence among young adults. Nevertheless, haemolytic states remain the most common reason for gallstones in children.

Children who present with ruptured appendices are at increased risk of intra abdominal collections or abscesses. A swinging temperature is the first clue in indicating an intra abdominal abscess in a patient who had recently undergone surgery for a perforated appendix. The best course of action is therefore to get an ultrasound of the fluid collection before proceeding to rule out any other complication.

CSF is produced mainly by a structure called the choroid plexus in the lateral, third and fourth ventricles. CSF flows from the lateral ventricle to the third ventricle through the interventricular foramen (also called the foramen of Monro). The third ventricle and fourth ventricle are connected to each other by the cerebral aqueduct (also called the Aqueduct of Sylvius). CSF then flows into the subarachnoid space through the foramina of Luschka (there are two of these) and the foramen of Magendie (only one of these).Absorption of the CSF into the blood stream takes place in the superior sagittal sinus through structures called arachnoid villi . When the CSF pressure is greater than the venous pressure, CSF will flow into the blood stream.