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.

The symptoms of excessive salivation and diarrhoea, along with hypotension, bradycardia, and bronchoconstriction, indicates excess parasympathetic nervous system activity. The patient is showing features of acetylcholine toxicity. Pesticides typically contain organophosphates that are potent inhibitors of acetylcholinesterase. This enzyme is responsible for the metabolism of acetylcholine. Acetylcholine is the neurotransmitter used in the neuromuscular junction, as well as at select points in the autonomic nervous system. The autonomic acetylcholine receptors can be nicotinic (more sensitive to nicotine) or muscarinic (more sensitive to muscarine). The most relevant receptors in this scenario are the muscarinic receptors as the majority are located in the parasympathetic nervous system smooth muscle, exocrine glands, and cardiac conduction system.Other options:- Accordingly, to cause the symptoms described, there must be an abundance of acetylcholine which stimulates the muscarinic receptors to enhance the parasympathetic effects. Therefore the reduction in the formation of acetylcholine option must be incorrect as this would produce the opposite effect. – Noradrenaline is the primary neurotransmitter in the sympathetic nervous system, and both answer options relating to noradrenaline would increase the neurotransmitter and potentiate the sympathetic nervous system effects, making them incorrect.Features can predict the accumulation of acetylcholine (mnemonic = SLUD):- Salivation- Lacrimation- Urination- Defecation/diarrhoeaCardiovascular symptoms include hypotension and bradycardia. The patient can show associated small pupils and muscle fasciculationManagement:- Atropine- The role of pralidoxime is still unclear – meta-analyses to date have failed to show any clear benefit.

Hyposplenism is associated with thrombocytosis. Other features of hyposplenism are: – Howell-Jolly bodies and acanthocytosis, occurring secondary to haemolysis.- Pappenheimer bodies: These are granular deposits of iron found within the RBCs.- Lymphocytosis and monocytosis.Causes for hyposplenism include:- Congenital asplenia- Iatrogenic splenectomy: Following trauma or treatment for ITP, thalassemia or spherocytosis).- Autosplenectomy: Secondary to sickle cell anaemia, coeliac disease, dermatitis herpetiformis, essential thrombocythemia or splenic arterial thrombosis).

Idiopathic hypercalciuria (IH) is the commonest metabolic abnormality in patients with calcium kidney stones. It is characterized by normocalcemia, absence of diseases that cause increased urine calcium, and calcium excretion that is above 250 mg/day in women and 300 mg/day in men. Subjects with IH have a generalized increase in calcium turnover, which includes increased gut calcium absorption, decreased renal calcium reabsorption, and a tendency to lose calcium from bone. Despite the increase in intestinal calcium absorption, negative calcium balance is commonly seen in balance studies, especially on a low calcium diet. The mediator of decreased renal calcium reabsorption is not clear| it is not associated with either an increase in filtered load of calcium or altered PTH levels. There is an increased incidence of hypercalciuria in first-degree relatives of those with IH, but IH appears to be a complex polygenic trait with a large contribution from diet to expression of increased calcium excretion. Increased tissue vitamin D response may be responsible for the manifestations of IH in at least some patients.

This is the clinical picture of dermatitis herpetiformis associated with gluten-sensitive enteropathy. To establish the diagnosis, you should measure the coeliac antibodies. Darrier’s sign (where the skin urticates when it is stroked) is positive in urticaria pigmentosa.

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in type IV collagen genes (COL4A5) and are inherited in an X-linked autosomal recessive pattern. Alport syndrome has autosomal dominant inheritance in about 5 percent of cases.People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (haematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys become less able to function as this condition progresses, resulting in end-stage renal disease (ESRD).People with Alport syndrome frequently develop sensorineural hearing loss, which is caused by abnormalities of the inner ear, during late childhood or early adolescence. Affected individuals may also have misshapen lenses in the eyes (anterior lenticonus) and abnormal coloration of the light-sensitive tissue at the back of the eye (retina). These eye abnormalities seldom lead to vision loss.Significant hearing loss, eye abnormalities, and progressive kidney disease are more common in males with Alport syndrome than in affected females.

Among the given options, psoriasis is not associated with hypertrichosis.The causes of hypertrichosis include:- Drugs: minoxidil, ciclosporin, and diazoxide.- Congenital hypertrichosis lanuginosa and congenital hypertrichosis terminalis.- Porphyria cutanea tarda- Anorexia nervosa

Immunity against mumps develops over a long time. There is nothing to be done except to proceed with the usual vaccination schedule.

The presentation of the child is highly suggestive of Henoch-Schonlein purpura (HSP). It is an IgA-mediated, autoimmune hypersensitivity vasculitis that targets the small vessels of the skin, GI tract, kidneys, and joints.It is most commonly seen in children aged 3 – 6 years old and is twice as common in boys than girls. Preceding viral URTI with low-grade pyrexia is common. The most common organism associated with HSP is, however, Group A streptococcal infection.A purpuric rash is seen on the back of the legs and buttocks and can less frequently affect the arms. Arthralgia is common (usually knees/ankles) in these patients.Abdominal pain and bloody diarrhoea may occur. And half of the children with HSP have renal involvement. Rarely, it can lead to end-stage renal failure.Treatment includes adequate hydration, occasionally steroids, and other immunosuppressants. The disease can recur in 1 in 3 children.

The commonest time for bacterial meningitis is in the 1st month of life and group B Streptococcus is the commonest organism. The anterior fontanelle is full, but does not bulge with normal flexion. Neurological manifestations include seizures, irritability, poor tone, lethargy and tremors, however no findings of sensorineural deafness have been noted. One of the risk factors for introduction of meningeal infection is Meningomyelocele.

The most appropriate next step would be to request for an EEG (electroencephalogram).The two primary differential diagnoses for the clinical scenario presented would be night terrors (hypnopompic hallucinations) due to underlying narcolepsy or frontal lobe epilepsy.Though occult airway obstruction and obstructive sleep apnoea can cause sleep disturbances, the clinical scenario presented is more suggestive of neurological disorders.The hyper-motor activity, along with arm posturing (often dystonic in appearance) and multiple occurrences per night would favour epilepsy. The daytime somnolence could be secondary to the nocturnal seizures.

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.

The mesonephric duct is one of the paired embryogenic tubules that drain the primitive kidney (mesonephros) to the cloaca. It also gives off a lateral branch forming the ureteric bud. In both the male and the female the Wolffian duct develops into the trigone of the urinary bladder. When the ducts are exposed to testosterone during embryogenesis, male sexual differentiation occurs: the mesonephric duct develops into the rete testis, the ejaculatory ducts, the epididymis, the ductus deferens and the seminal vesicles.

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.

A 3 year old should be able to match two colours, copy a circle, walk up and down the stairs, and jump up and down. By the time they are 4 they can copy a cross, draw a person with three parts, count to 10, stand on one foot.

Live attenuated vaccines such as the MMR, should be avoided in HIV+ patients.

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.

Coarctation of the aorta may be defined as a constricted aortic segment that comprises localized medial thickening, with some infolding of the medial and superimposed neointimal tissue.The presence of associated defects and aortic arch anomalies, the extent of patency of the ductus arteriosus, the rapidity of the process of closure of the ductus arteriosus, and the level of pulmonary vascular resistance determine the timing of clinical presentation and the severity of symptoms. Young patients may present in the first few weeks of life with poor feeding, tachypnoea, and lethargy and progress to overt CHF and shock. These patients may have appeared well before hospital discharge, and deterioration coincides with closure of the patent ductus arteriosus. Presentation may be abrupt and acute with ductal closure.Neonates may be found to have tachypnoea, tachycardia, and increased work of breathing and may even be moribund with shock. Keys to the diagnosis include blood pressure (BP) discrepancies between the upper and lower extremities and reduced or absent lower extremity pulses to palpation. However, when the infant is in severe heart failure, all pulses are diminished.The murmur associated with coarctation of the aorta may be nonspecific yet is usually a systolic murmur in the left infraclavicular area and under the left scapula.

This is a case of an anaphylactic reaction that requires immediate intervention. IM adrenaline dose for 6-12 year old children is 300 micrograms IM.

Lung buds are formed by 4-5 weeks of gestation.Development of the respiratory tract has five stages:- Embryonic (at 4 – 5 weeks of gestation):Formation of lung buds, trachea and mainstem bronchi occur. These structures are formed from a ventral outpouching of foregut pharynx. At this stage, the beginnings of the five lung lobes are present.- Pseudoglandular (at 5 – 16 weeks of gestation):Formation of terminal bronchioles, cartilage and smooth muscles occur in this stage. Adult numbers of airways proximal to acini are in place.- Canalicular (at 16-24 weeks gestation): Differentiation of type I and II epithelial cells can be done in this stage. There is also an increase in the size of proximal airways).- Saccular (at 24 – 40 weeks of gestation): Terminal saccule formation occurs. Production of surfactant takes place at this stage with an increase in the number of goblet cellsUp to half the adult number of alveoli are in place by this stage.- Alveolar (occurs between 32 weeks of gestation till the post-natal age 8): Formation of alveoli and septation occurs with the expansion of air spaces.

In the case of anterior nasal bleeds, when the bleeding point is clearly visualised the best management step is cautery, either electrical or chemical.

The central nervous system comprises of two types of cells| neurons and neuroglial cells. Glial cells are the support cells that serve a number of important functions. Three types of neuroglia comprise the mature nervous system, which are ependymal cells, microglia, and macroglia. The macroglia are of two types oligodendrocytes and astrocytes. Microglia are the neuroglial cells that serve the function of phagocytosis since they are derived from the hematopoietic stem cells and share properties with tissue macrophages. They remove the cellular debris from the site of injury or normal cellular turnover by performing scavenger function.

Although some individuals with Anorexia Nervosa exhibit no laboratory abnormalities, the semistarvation characteristic of this disorder can affect most major organ systems and produce a variety of disturbances. The induced vomiting and abuse of laxatives, diuretics, and enemas can also cause a number of disturbances leading to abnormal laboratory findings.Haematology: Leukopenia and mild anaemia are common| thrombocytopenia occurs rarely.Chemistry: Dehydration may be reflected by an elevated blood urea nitrogen (BUN). Hypercholesterolemia is common. Liver function tests may be elevated.Hypomagnesemia, hypozincaemia, hypophosphatemia, and hyperamylasaemia are occasionally found. Induced vomiting may lead to metabolic alkalosis (elevated serum bicarbonate), hypochloraemia, and hypokalaemia, and laxative abuse may cause a metabolic acidosis. Serum thyroxine levels are usually in the low-normal range| triiodothyronine levels are decreased. Hyperadrenocorticism and abnormal responsiveness to a variety of neuroendocrine challenges are common.In females, low serum oestrogen levels are present, whereas males have low levels of serum testosterone. There is a regression of the hypothalamic-pituitary-gonadal axis in both sexes in that the 24-hour pattern of secretion of luteinizing hormone (LH) resembles that normally seen in prepubertal or pubertal individuals.

Clinical diagnosis of neurofibromatosis type 1 requires the presence of at least 2 of 7 criteria to confirm the presence of neurofibromatosis, type 1. Many of these signs do not appear until later childhood or adolescence, and thus confirming the diagnosis often is delayed despite a suspicion of NF1. The 7 clinical criteria used to diagnose NF1 are as follows:- Six or more café-au-lait spots or hyperpigmented macules greater than 5 mm in diameter in prepubertal children and greater than 15 mm postpubertal- Axillary or inguinal freckles (>2) – Two or more typical neurofibromas or one plexiform neurofibroma- Optic nerve glioma- Two or more iris hamartomas (Lisch nodules), often identified only through slit-lamp examination by an ophthalmologist- Sphenoid dysplasia or typical long-bone abnormalities such as pseudarthrosis- A first-degree relative (e.g., mother, father, sister, brother) with NF1

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.

Cataracts in infants are most commonly identified by an abnormal red reflex. Due to the high risk of amblyopia in unilateral cataracts, prompt referral to a paediatric ophthalmologist is indicated. Bilateral cataracts may occur in association with several syndromes or diseases, and these children require evaluation for these systemic disorders.Retinoblastoma is rare, but it is the most common primary intraocular tumour in children. About 80% of cases are diagnosed before age 4, with a median age at diagnosis of 2 years. It most frequently presents due to an abnormal red reflex. It is one of the few life-threatening disorders encountered in paediatric ophthalmology. Intraocular retinoblastoma is very treatable, but the mortality for metastatic disease is high. Identification of tumours before systemic spread is critical. Most children with large unilateral tumours will require enucleation (surgical removal of the eye), but the eye and vision may sometimes be preserved if the tumours are identified when they are small.

Group B beta-haemolytic Streptococcus (GBS) and Escherichia coli are the most common cause of early sepsis. Group B Streptococcus (GBS), also known as Streptococcus agalactiae, is best known as a cause of postpartum infection and as the most common cause of neonatal sepsis. The GBS organism colonizes the vagina, GI tract, and the upper respiratory tract of healthy humans. GBS infection is almost always associated with underlying abnormalities. In elderly persons aged 70 years or older, GBS infection is strongly linked with congestive heart failure and being bedridden.Penicillin remains the drug of choice for group B streptococcal infection but resistance may occur.

DiGeorge syndrome is one of the most common microdeletion syndromes, resulting from 22q11 deletion. 10% of the cases can be inherited in an autosomal dominant fashion, while 90% are sporadic. The syndrome is characterized by a deficiency of both T and B-cell lines along with hearing loss, 20-fold increased lifetime chances of developing schizophrenia, renal abnormalities, congenital heart defects, and a borderline or low IQ. Distinctive facial features include micrognathia, long face, short philtrum, cleft palate, and small teeth.

Omega-shaped epiglottis is a characteristic feature in the X-ray of a patient with laryngomalacia.

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.

The most probable diagnosis for the clinical scenario provided is coarctation of the aorta. It contributes to about 4% of all congenital heart disease and is more prominent in males than females.It is associated with trisomy 13 and 18, Turner syndrome, valproate toxicity as well as ventricular septal defects, persistent ductus arteriosus, mitral valve abnormalities and berry aneurysms of the circle of Willis. Other associated cardiac abnormalities include a bicuspid aortic valve (50%), mitral valve disease, aortic regurgitation (20%) and subaortic stenosis. Ninety-eight per cent of coarctations occur at the level of the pulmonary artery after the subclavian artery. It is for this reason that, on observation, the proximal blood pressure varies compared with the distal blood pressure. The blood pressure in the right arm is often higher than that in the left arm. Clinically, these children present with hypertension, prominent carotid pulses, radio-femoral delay, left ventricular hypertrophy and an ejection systolic murmur maximum over the posterior left interscapular area. An apical click over the aortic valve may be heard. Coarctation of the aorta may be simple (post-ductal), or complex (pre-ductal or with a septal defect), and may be associated with aortic stenosis, transposition of the great arteries or a bicuspid aortic valve. The ECG and chest radiograph may be normal. However, as the child enters the first decade, evidence of cardiomegaly, congestive heart failure, post-stenotic dilatation with a dilated subclavian artery and rib notching may be noticed. The ECG may show right ventricular hypertrophy, left ventricular hypertrophy in infancy and right axis deviation. Complications of coarctation of the aorta include left ventricular failure, cerebral haemorrhage, aortic dissection, renal vascular stenosis and infective endocarditis. This condition may result in death due to an aortic aneurysm or rupture in the third or fourth decade of life. It may also cause premature ischaemic heart disease as a result of hypertension. If left untreated, 20% of individuals die before 20 years of age and 80% before 50 years of age. Treatment options include surgical balloon dilatation or the grafting of a subclavian flap, and should surgical correction not normalise the blood pressure, further medical management is required.

Embryologically the testes are retroperitoneal structures in the posterior abdominal wall, attached to the anterolateral abdominal wall by the gubernaculum. The gubernaculum ‘pulls’ the testes through the deep inguinal ring, inguinal canal and superficial inguinal ring and over the pelvic brim. The gubernaculum is preceded by the processus vaginalis that is derived from the peritoneum anterior to the testes. The processus vaginalis pushes the muscle and fascial layers. These eventually make up the canal and the spermatic cord, into the scrotum. The gubernaculum persists as the scrotal ligament while part of the processus vaginalis remains as a bursa-like sac i.e. the tunica vaginalis testes. The testes therefore could be caught in any one of these places along its path of descending. The testes are never in the perineum.

Based on the clinical presentation, the pubic hair development is in Tanner stage 2.The Tanner stages for pubic hair are as follows:Stage 1 – pre-adolescentStage 2 – sparse hair that is long, slightly pigmented and downyStage 3 – hair spread over the junction of the pubes, darker and coarserStage 4 – adult-type hair, but the area covered is smaller than it is in an adult.Stage 5 – adult in quantity and type

Neonatal hyperbilirubinemia is a common clinical condition and can be categorized as conjugated and unconjugated hyperbilirubinemia. Conjugated hyperbilirubinemia results from obstructive or hepatocellular causes mainly. The causes of conjugated hyperbilirubinemia include inborn errors of metabolism like galactosemia and aminoaciduria, obstruction from choledochal cysts, and biliary atresia. Long term TPN also leads to conjugated hyperbilirubinemia. Spherocytosis is a hereditary condition belonging to the group of haemolytic anaemias, resulting from plasma membrane protein deficiency. This defect of the RBC plasma membrane decreases their life span, making them osmotically fragile and prone to haemolysis. This leads to an increase in the unconjugated bilirubin levels, with a risk of developing kernicterus.

In nephrotic syndrome, one of the main pathological processes is the excretion of protein by the kidneys. The resultant signs including| low serum albumin, oedema and hypovolemia all occur as a result of fluid escaping into the extracellular space due to a low oncotic pressure. While an albumin infusion may help to increase oncotic pressure, its indications specifically include hypovolemia, which is assessed by a capillary refill time more than 5 seconds, an elevated haematocrit, or severe symptomatic oedema, such as scrotal oedema. Hypertension not an indication for an infusion, and most patients needing an albumin infusion have oliguria.

The most probable diagnosis for this patient, according to the clinical scenario provided is tuberous sclerosis. It is an autosomal-dominant disorder characterised by hamartomas located throughout the body, often prominently involving the central nervous system and skin. Two loci on chromosomes 9 and 16 have been identified to be associated with this condition. The condition has a variable expression and penetrance and is further characterised by:- Seizures (usually infantile spasms)- Developmental delay- Facial/cutaneous angiofibromas (adenoma sebaceum)- Periungual fibromas (pink projections from the nail folds)- Shagreen patches (leathery thickenings of the skin usually on the back) – Ash leaf macules (areas of depigmentation that become visible under a Wood’s light)- Fundoscopy may reveal white streaks along the fundal vessels.

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.

Liddle’s syndrome,  is an autosomal dominant disorder, that is characterized by early, and frequently severe, high blood pressure associated with low plasma renin activity, metabolic alkalosis, low blood potassium, and normal to low levels of aldosterone. Liddle syndrome involves abnormal kidney function, with excess reabsorption of sodium and loss of potassium from the renal tubule. Bartter Syndrome also presents with hypokalaemia, however blood pressure of these patients is usually low or normal.

Upper brachial plexus roots innervate the proximal muscles of the shoulder and the upper arm. In this particular case, only these areas are affected, suggesting that the levels of brachial plexus injury are at roots C5-C6.

The differentials of the child’s condition are likely to include an Iron deficiency anaemia, or a hemoglobinopathy such as sickle cell disease or thalassemia based on the presentation of pallor, growth failure and easy fatiguability. While the full blood count and film present a hypochromic microcytic anaemia with reticulocytosis, the normal serum ferritin levels rule out iron deficiency anaemia. Thalassemia is to be suspected over sickle cell disease as the patient comes from the Mediterranean region known for a high incidence of thalassemia. Sickle cell anaemia also tends to present with normocytic normochromic red blood cells, with many sickled cells. Vitamin B12 deficiency and Aplastic anaemia are ruled out as they present with a macrocytic anaemia, and a decrease in white blood cells, platelets and red blood cells respectively.

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.

The Chi squared test is used to find the relationship between two variables, determining whether they are not independent of each other. This test of statistical significance allows you to determine the degree of confidence with which you can accept or reject the null hypothesis. The student t test compares the significant differences in data means, while rank correlation, linear regression and the correlation coefficient all help to measure the linear relationship between variables.

Cases of neonatal infant ambiguous genitalia can be a great source of psychological stress for families. One of the most important next steps in managing the case is reassuring the parents that the best care will be given to the baby and then informing them about the investigations that will need to be performed before a sex can be assigned. The sex should not be guessed just by examination nor assigned by karyotyping. Thorough investigations must be completed with the help of endocrinologists for the best outcome.

Intussusception is the most suggested case here based on the child’s symptoms. The urgent course of treatment is to bring the child to a paediatric surgical unit. If air reduction attempts fail, surgery will have to be done. Risk factors for intussusception include viral infection and intestinal lymphadenopathy.

Cranial nerve VI, also known as the abducent nerve, innervates the ipsilateral lateral rectus (LR), which functions to abduct the ipsilateral eye. Patients usually present with an isolated abduction deficit, binocular horizontal diplopia, worse in the distance, and esotropia in primary gaze. Patients also may present with a head-turn to maintain binocularity and binocular fusion and to minimize diplopiaExamination for a sixth nerve palsy involves documenting the presence or absence of papilledema, examining the ocular motility, evaluating the eyelids and pupils, and excluding involvement of other cranial nerves (e.g., V, VII, VIII).

Most cases of Trisomy 18, also called Edwards syndrome, are not inherited but occur as random events during the formation of eggs and sperm. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 18. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 18 in each of the body’s cells.Mosaic trisomy 18 is also not inherited. It occurs as a random event during cell division early in embryonic development. As a result, some of the body’s cells have the usual two copies of chromosome 18, and other cells have three copies of this chromosome.Partial trisomy 18 can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 18 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 18. Although they do not have signs of trisomy 18, people who carry this type of balanced translocation are at an increased risk of having children with the condition.Canavan disease is a type of leukodystrophy and a degenerative disorder that causes progressive damage to nerve cells in the brain. It is inherited in an autosomal recessive manner.Cystic Fibrosis is the most common lethal recessive disease of white people, with a carrier frequency of 1:25 and is inherited in an autosomal recessive manner.Galactosaemic is autosomal recessive and due to mutations in the GALT gene.Phenylketonuria is the most common inborn error of metabolism in the UK with an incidence of 1:10,000 and a carrier rate of 1:50.

The diagnosis of scabies can often be made clinically in patients with a pruritic rash and characteristic linear burrows. Definitive testing relies on the identification of mites or their eggs, eggshell fragments, or scybala. This is best undertaken by placing a drop of mineral oil directly over the burrow on the skin and then superficially scraping longitudinally and laterally across the skin with a scalpel blade. (Avoid causing bleeding.) Scraping 15 or more burrows often produces only 1 or 2 eggs or mites, except in a case of crusted scabies, in which many mites will be present. The sample is placed on a microscope slide and examined under low and high power. Potassium hydroxide should not be used, since it can dissolve mite pellets. Failure to find mites is common and does not rule out the diagnosis of scabies.

Transfusion with blood products carries a risk of acute and more chronic adverse reactions. These reactions can either be immune mediated due to a component mismatch, or non immune, underpinned by bacterial or viral contamination. Reactions range from very mild such as urticaria, to life threatening in the case of transfusion-related acute lung injury. In transfusion with packed red blood cells, the most common adverse event is pyrexia, while urticaria is the most common adverse event that follows infusion with FFP.

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.

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.