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.

Jacob is likely to be four years old as demonstrated by his activities throughout the day. Most 4 year olds are able to run well, jump and hop, but find skipping a little more difficult. They are able to brush their teeth and dress themselves with supervision, and go to the toilet alone.

The parotid duct (Stensen’s duct), which provides an exit for the gland’s secretions, passes through the anterior edge of the gland in the superficial lobe, turns medially at the anterior border of the masseter, penetrates the buccinator, then enters the oral cavity lateral to the second maxillary molar.

Infantile spasm belongs to the spectrum of seizure disorders. Infantile spasm manifests itself with loss of consciousness and jerky movements. The peak age of onset is between 4 and 6 months. Approximately 90% of infantile spasms begin before 12 months of age. It is rare for infantile spasms to begin during the first 2 weeks of life or after 18 months.

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

Bone age is a valuable tool for determining the skeletal maturation in children. An X-ray of the left hand and wrist or knee is used to calculate bone age, which is then compared with the chronological age of the subject to know if the bone age is advanced or delayed. Certain standardized methods are used to score skeletal maturity, the most common methods are the Tanner-Whitehouse (TW) and Greulich-Pyle (GP) methods. The growth plate comprises a resting zone, a proliferative zone, hypertrophic cartilage zone, calcified cartilage zone, and then the ossification zone. This is the zonal distribution from the epiphysis to the diaphysis. After the closure of growth plates, spinal growth still occurs to some extent, adding up to the final height. The growth plates in boys close at around 17 to 19 years of age, while in girls, they close at around 13 to 15 years.

The initial symptoms of spasmodic abdominal pain, rectal bleeding and vomiting might point towards intussusception, but the peak incidence is in children aged 6–9 months. Considering that this child has additional symptoms of haematuria, proteinuria and a purpuric rash, it is more likely that the child has Henoch–Schönlein purpura (HSP). HSP is an identifiable cause of intussusception. 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 – 6years 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.

Primary sclerosing cholangitis (PSC) is a long-term progressive disease of the liver and gallbladder characterized by inflammation and scarring of the bile ducts which normally allow bile to drain from the gallbladder. Early cholangiographic changes can include fine or deep ulcerations of the common bile duct. As PSC progresses, segmental fibrosis develops within the bile ducts, with saccular dilatation of the normal areas between them, leading to the typical beads-on-a-string appearance seen on cholangiography. Although these strictures can be found anywhere on the biliary tree, the intrahepatic and extrahepatic bile ducts are simultaneously involved in the vast majority of cases.

Infections of the superficial skin around the eyes are called periorbital, or preseptal, cellulitis. It is predominantly a paediatric disease. Erysipelas is a bacterial skin infection involving the upper dermis which extends into the superficial cutaneous lymphatics. Sinusitis is in sinuses. Orbital infections and conjunctivitis are within the eye.

The clinical picture suggests intracranial haemorrhage which is uncommon but prevalent in pre-term babies. The rest of the options suggest peripheral causes which do not affect the central function.

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.

Osteochondromas, or osteocartilaginous exostoses, are the most common benign bone tumours, and tend to appear near the ends of long bones. The overgrowth can occur in any bone where cartilage forms bone, and they are capped by cartilage. They are most common in people between the ages of 10-20 years old.

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.

A child may be diagnosed with PANDAS when:- Obsessive-compulsive disorder (OCD), tic disorder, or both suddenly appear following a streptococcal (strep) infection, such as strep throat or scarlet fever.- The symptoms of OCD or tic symptoms suddenly become worse following a strep infection.The symptoms are usually dramatic, happen “overnight and out of the blue,” and can include motor or vocal tics or both and obsessions, compulsions, or both. In addition to these symptoms, children may become moody or irritable, experience anxiety attacks, or show concerns about separating from parents or loved ones.

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.

A micturating cystourethrogram (MCUG) is one type of imaging test also called a voiding cystourethrogram (VCUG). The MCUG can check whether the flow of urine from the child’s bladder is being blocked, or whether it goes up the wrong way. It can help diagnose certain conditions, including vesicoureteral reflux and posterior urethral valves.

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.

Injuries to the peroneal nerve can cause numbness, tingling, pain, weakness and foot drop. The branches of the common peroneal nerve innervate and control the muscles in the legs that lift the ankle and toes upward (dorsi flexion).

Coarctation of the aorta is one of the serious forms of congenital heart diseases characterized by a congenitally narrowed down proximal thoracic aorta. This narrowing is usually located distal to the origin of the left subclavian artery. Coarctation can occur in isolation but can accompany other cardiac lesions, including a bicuspid aortic valve. When the coarctation is located just above the left subclavian artery, raised blood pressure can be noted in the right arm. The most common type of murmur found in coarctation of the aorta is a diastolic murmur of aortic regurgitation due to the presence of a bicuspid aortic valve. Exercise augmented cardiac output is only affected in cases where coarctation of the aorta leads to heart failure. Hypertension persists even after the surgical repair and needs to be closely monitored.

The average amount of energy required by a well preterm baby in a thermo-neutral environment is 50/kcal/kg to maintain essential body functions while it takes about 70 kcal/kg/day for optimal growth. It is important to ensure that enough proteins are given per calorie to limit catabolism and promote cell building. Caloric need usually increases when the baby is ill.

The history is suggestive of a post-traumatic seizure which frequently occurs after moderate or severe traumatic brain injury. Although upgoing plantars can be identified in a post-ictal status, an intracranial bleed has to be excluded. A single seizure cannot be considered epilepsy

The clinical presentation is suggestive of congenital rubella syndrome. The classic triad of presenting symptoms includes sensorineural hearing loss, ocular abnormalities (cataract, infantile glaucoma, and pigmentary retinopathy) and congenital heart disease (patent ductus arteriosus and pulmonary artery stenosis). Other findings in congenital rubella syndrome include CNS abnormalities (mental retardation, behavioural disorders, encephalographic abnormalities, hypotonia, meningoencephalitis, and microcephaly), hepatosplenomegaly, and jaundice.

Oligomenorrhoea and BMI of 40.4 is suggestive of Polycystic ovary syndrome (PCOS). To diagnose PCOS 2 out of following 3 criteria should be present : oligo/anovulation, hyperandrogenism, clinical (hirsutism or less commonly male pattern alopecia) or biochemical (raised FAI or free testosterone) and polycystic ovaries on ultrasound.

Hydrocephalus is a serious medical condition resulting from excessive accumulation of cerebrospinal fluid in the brain leading to abnormal pressure build-up inside the brain. Hydrocephalus can be categorized into two types according to the flow of CSF between the ventricles. When the CSF flows freely between the ventricles, but is blocked after it exits the ventricular system, the hydrocephalus is said to be a communicating hydrocephalus. When the flow of CSF within the ventricles is blocked, the resulting hydrocephalus is termed as obstructive, or non-communicating. The communicating hydrocephalus is caused by insufficient reabsorption of CSF in the subarachnoid space, which is also observed in cases of bacterial meningitis, in which inflammatory process leads to the thickening of the leptomeninges and thereby reduces CSF reabsorption. Arnold Chiari malformation is associated with obstructive hydrocephalus due to blocked ventricles. Congenital aqueduct stenosis causes the blockage of third and lateral ventricles. Congenital atresia of the foramen of Monro leads to blocked lateral ventricles and thus results in obstructive hydrocephalus. Tumour of the posterior fossa is associated with blockage of the fourth ventricle outflow.

Certain CHDs may present with a differential cyanosis, in which the preductal part of the body (upper part of the body) is pinkish but the post ductal part of the body (lower part of the body) is cyanotic, or vice versa (reverse differential cyanosis). The prerequisite for this unique situation is the presence of a right-to-left shunt through the PDA and severe coarctation of the aorta or aortic arch interruption or severe pulmonary hypertension. In patients with severe coarctation of the aorta or interruption of the aortic arch with normally related great arteries, the preductal part of the body is supplied by highly oxygenated pulmonary venous blood via the LA and LV, whereas the post ductal part is supplied by deoxygenated systemic venous blood via the RA, RV, main pulmonary artery (MPA) and the PDA. In the new-born with structurally normal heart, a differential cyanosis may be associated with persistent pulmonary hypertension of the new-born. In the cases of TGA with coarctation of the aorta or aortic arch interruption, the upper body is mostly supplied by systemic venous blood via the RA, RV, and ascending aorta, whereas the lower body is supplied by highly oxygenated pulmonary venous blood via the LA, LV, MPA, and then the PDA. For accurate detection of differential cyanosis, oxygen saturation should be measured in both preductal (right finger) and post ductal (feet) parts of the body.

Adrenal insufficiency is a serious medical condition that leads to inadequate secretion of corticosteroids. There are three main types of adrenal insufficiency: primary, secondary, and tertiary, based on the location of the abnormality. Primary adrenal insufficiency is caused by any pathology located inside the adrenal glands. The most common cause of primary adrenal insufficiency is Addison’s disease, which is an autoimmune condition. Adrenoleukodystrophy is an X-linked neurodegenerative disease that also causes primary adrenal insufficiency. Secondary adrenal insufficiency is caused by any pathological impairment of the pituitary gland or the hypothalamus. The important causes of secondary adrenal insufficiency include iatrogenic (steroid use), pituitary tumours like craniopharyngioma, and conditions leading to panhypopituitarism like Sheehan’s syndrome. Tertiary adrenal insufficiency is caused by the deficiency of the corticotropin-releasing hormone. Hypoparathyroidism does not cause adrenal insufficiency.

The first brachial arch (mandibular) gives rise to the mandibular and maxillary processes. Muscles and bones of this process originate within the arch’s mesoderm. The first arch cartilage (Meckel’s) ossifies to form the incus and malleus of the middle ear. Its perichondrium gives rise to he sphenomandibular ligament and through intermembraneous ossification after the mandible forms, the rest of the cartilage disappears. Muscles of the first arch include: mylohyoid, tensor tympany and palati, temporalis, masseter and lateral pterygoids and the anterior belly of the epigastric. This first arch is supplied by the trigeminal nerve.

The gastrocolic reflex is a physiological reflex that involves increase in colonic motility in response to stretch in the stomach and by-products of digestion in the small intestine. It is shown to be uneven in its distribution throughout the colon, with the sigmoid colon affected more than the right side of the colon in terms of a phasic response. Various neuropeptides have been proposed as mediators of this reflex, such as serotonin, neurotensin, cholecystokinin and gastrin.

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.

Infective endocarditis (IE) is an acute infective pathology of the endocardium secondary to some underlying cardiac pathology like VSD and TOF. Most commonly, it is bacterial in origin, caused by staphylococcus aureus in the majority of cases. Clinical features include fever, arthralgias, weight loss, anorexia, new-onset, or changing existing murmur. Skin manifestations include Osler’s nodes, Janeway lesions, splinter haemorrhages, and clubbing. Roth spots are conjunctival haemorrhages found in IE. Beau’s lines are not found in IE.

Intensive physical training and participation in competitive sports during childhood and early adolescence may affect athletes’ pubertal development.Female athletes who do not begin secondary sexual development by the age of 14 or menstruation by the age of 16 warrant a comprehensive evaluation and treatment.Since she is still 14, adequate diet and observation are enough.

The child has a history of pharyngitis followed 10 days later by signs of glomerulonephritis. In this particular case, it is most probably a post-streptococcus glomerulonephritis which accounts for 80% of paediatric cases of glomerulonephritis.

A lucid interval, in which the patient portrays a temporary improvement in condition after a traumatic brain injury, is especially indicative of an epidural haematoma.

Angelman syndrome is a rare genetic and neurological disorder caused by deletion or abnormal expression of the UBE3A gene and characterized by severe developmental delay and learning disabilities| absence or near absence of speech| inability to coordinate voluntary movements (ataxia)| tremulousness with jerky movements of the arms and legs and a distinct behavioural pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling. Although those with the syndrome may be unable to speak, many gradually learn to communicate through other means such as gesturing. In addition, children may have enough receptive language ability to understand simple forms of language communication. Additional symptoms may occur including seizures, sleep disorders and feeding difficulties. Some children with Angelman syndrome may have distinctive facial features but most facial features reflect the normal parental traits.

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

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

Certain infections and medications cause characteristic skin lesions, which are the result of hypersensitivity reactions to these agents. A skin rash characterized by the eruption of macules, papules, and target-like circular lesions is referred to as erythema multiforme. The target or iris lesions appear rounded with a red centre surrounded by a pale ring, which in turn is surrounded by a dark red outer ring. These are acute and self-limiting with a propensity for distal extremities. The most common infectious cause is the infection with herpes simplex virus 1 and 2 to a lesser extent. Other notable infectious causes of erythema multiforme include Mycoplasma pneumoniae, cytomegalovirus, HIV, hepatitis c virus, varicella zoster virus, adenovirus, and some fungal infections. Norovirus infection has not been implicated in the aetiology of erythema multiforme.

Answer: RicketsRickets is a disease of growing bone that is unique to children and adolescents. It is caused by a failure of osteoid to calcify in a growing person. The signs and symptoms of rickets can include:pain – the bones affected by rickets can be sore and painful, so the child may be reluctant to walk or may tire easily| the child’s walk may look different (waddling)skeletal deformities – thickening of the ankles, wrists and knees, bowed legs, soft skull bones and, rarely, bending of the spinedental problems – including weak tooth enamel, delay in teeth coming through and increased risk of cavitiespoor growth and development – if the skeleton doesn’t grow and develop properly, the child will be shorter than averagefragile bones – in severe cases, the bones become weaker and more prone to fractures.Marfan syndrome (MFS) is a genetic disorder of the connective tissue. The degree to which people are affected varies. People with Marfan tend to be tall and thin, with long arms, legs, fingers and toes. They also typically have flexible joints and scoliosis. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. Other commonly affected areas include the lungs, eyes, bones and the covering of the spinal cord.Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem if you have a wound that requires stitches, because the skin often isn’t strong enough to hold them.A more severe form of the disorder, called Ehlers-Danlos syndrome, vascular type, can cause the walls of your blood vessels, intestines or uterus to rupture. Osteoporosis is a disease in which bone weakening increases the risk of a broken bone. It is the most common reason for a broken bone among the elderly. Bones that commonly break include the vertebrae in the spine, the bones of the forearm, and the hip. Until a broken bone occurs there are typically no symptoms. Bones may weaken to such a degree that a break may occur with minor stress or spontaneously. Chronic pain and a decreased ability to carry out normal activities may occur following a broken bone.Osteoporosis may be due to lower-than-normal maximum bone mass and greater-than-normal bone loss. Bone loss increases after menopause due to lower levels of oestrogen. Osteoporosis may also occur due to a number of diseases or treatments, including alcoholism, anorexia, hyperthyroidism, kidney disease, and surgical removal of the ovaries.

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.

Puberty is a period of transitioning into adulthood by developing full reproductive potential by undergoing drastic physiological and psychological changes. For boys, it occurs around 9-16 years of age typically. The process of pubertal changes is usually divided into stages called tanner’s stages. The physiologic changes of puberty are initiated by the release of gonadotropin-releasing hormones from the hypothalamus, which then interact with numerous endogenous and environmental stimuli to bring about the physical pubertal features. Tanner stage 2 in boys is characterized by the thinning and reddening of the scrotal skin.The growth spurt of around 9cm per year is expected in boys, at the peak velocity.Testicular enlargement of >3cm commences puberty.Pubarche, in the absence of other secondary sexual characteristics, is pathological.Adrenarche is the increase in the secretion of adrenal androgens, occurring prior to increased gonadotropin release.

The correct answer is triple X syndrome with a genotype of XXX and an almost normal female phenotype. The extra X chromosome is inactive. The final phenotype of an individual is determined after normal sexual and gonadal differentiation, a process that involves several genes located on chromosomes X and Y. Disorders of sexual differentiation result in cases of ambiguous genitalia and are caused by a number of genetic abnormalities. Among these disorders is the turner syndrome with a genotype of 45X0, characterized by gonadal dysgenesis and ovarian failure. DAX-1 gene mutation leads to congenital adrenal hypoplasia and hypogonadotropic hypogonadism, which results in virilization of female external genitalia. Campomelic dysplasia results from mutation of the SOX-9 gene, leading to 46XY sex reversal. Danys-Drash syndrome is characterized by disordered sexual development in affected males due to the mutated WT-1 gene, which also causes Wilm’s tumour.

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

Hypopigmentation refers to a decrease in the amount of the pigment melanin in the skin, which leads to an abnormally lighter skin tone. Hypopigmentation can be generalized or localized. Generalized hypopigmentation occurs in albinism or can be ethnicity related. Causes of localized hypopigmentation include Incontinentia pigmenti, Lichen planus, Tuberous sclerosis, Piebaldism, vitiligo, and leprosy. Celiac disease is not associated with hypopigmentation.

90% of patients with meconium ileus have cystic fibrosis (CF). Indeed, in 10 – 15% of cases of CF, the patient presents with meconium ileus.

Coxsackie viruses are a group of RNA viruses with over 20 serotypes| depending on specific viral characteristics, these serotypes are further divided into groups A and B. Infection is associated with a wide range of symptoms, which are dependent on the exact serotype. Hand, foot, and mouth disease (HFMD) and herpangina are commonly caused by group A coxsackie viruses, while pleurodynia and myocarditis are caused by group B coxsackie viruses. Both groups may cause viral meningitis, conjunctivitis, or flu‑like symptoms. Diagnostic procedures and treatment should be tailored to the specific disease manifestation. Coxsackie A :HerpanginaHand, foot, and mouth diseaseCharacteristics: highly contagiousClinical presentationGeneral symptoms: fever, reduced general conditionSkin/mucosaMaculopapular and partially vesicular rash on the hands and feetOral ulcersDiagnosis: clinicalTreatment: symptomaticPrognosis: almost always self‑limiting

In secretory OM, effusion in the middle ear is present which does not produce any pain to the patient in comparison to acute OM which produces otalgia. The family members are the ones to notice hearing loss as the patient usually is not aware of it. On otoscopy, the features described in the question are prominent. Otitis externa is usually painful and it also produces an itching sensation. Chronic otitis media is painful and may interfere with balance problems. Cholesteatoma is an abnormal cystic growth in the middle ear that usually discharges foul-smelling fluids and as it grows, otalgia can appear.

The right testicular vein is a tributary of the inferior vena cava, while the left testicular vein drains into the left renal vein.Note:The testicular venous drainage begins in the septa and these veins together with those of the tunica vasculosa converge on the posterior border of the testis as the pampiniform plexus. The pampiniform plexus, in turn, drains to the testicular vein.

The azygos lobe is usually well seen on the chest radiograph, where it is limited by the azygos fissure, a fine, convex (relative to the mediastinum) line that crosses the apex of the right lung.

Malabsorption of fat-soluble vitamins is likely in most people with Cystic Fibrosis (CF).Factors that may contribute to fat-soluble vitamin deficiencies in CF include:- Fat maldigestion and malabsorption as a consequence of pancreatic insufficiency and bile salt deficiency.- Fat maldigestion and malabsorption due to suboptimal PERT or poor adherence to PERT especially with vitamin replacement therapy.- Poor dietary intake due to anorexia or poor dietary sources of vitamins.- Poor adherence to prescribed fat-soluble vitamin supplementation.- Inappropriate vitamin supplementation regimens.- Increased utilisation and reduced bioavailability.- Short gut syndrome due to previous bowel resection.- CF-related liver disease.- Chronic antibiotic use.Vitamin A is a fat-soluble vitamin that plays a role in the eye (dark adaptation), skin, respiratory and immune systems. Vitamin A deficiency may cause night blindness and can proceed to xerophthalmia in CF.Severe vitamin D deficiency causes rickets in children and Osteomalacia in adults.Vitamin E acts as an antioxidant reducing the effects of free radicals produced by infection and chronic inflammation, thus helping to protect cell membranes from oxidative damage.Vitamin E deficiency has been associated with haemolytic anaemia in infants and may cause ataxia, neuromuscular degeneration and compromised cognitive function. Oxidative stress is enhanced in CF due to chronic respiratory inflammation.Vitamin K is important for blood coagulation and bone health.

Ventilatory rates of 40-60 breaths/min should be provided initially, with proportionally fewer assisted breaths provided if the infant’s spontaneous respiratory efforts increase. Although this practice has not been extensively studied, initial inflation of the new-born’s lungs with either slow-rise or square-wave inflation to a pressure of 30-40 cm H2 O for approximately 5 seconds has been reported to result in more rapid formation of Functional Residual Capacity (FRC).At the moment of delivery and first breath, the neonatal lung is converting from a fetal non-aerated status to a neonatal status. The neonatal lung requires gas exchange, and this necessitates the development of FRC with the resorption of lung fluid and the resolution of most of the atelectasis. Therefore, initial slow ventilation with more prolonged inspiratory times may be useful to assist in this task, balanced against the need to avoid inappropriate inspiratory pressures.Flow-controlled, pressure-limited mechanical devices are acceptable for delivering PPV. These mechanical devices control flow and limit pressure and be more consistent than bags. Self-inflating and flow-inflating bags remain a standard of care. Laryngeal mask airways are effective for assisted ventilation when bag-mask ventilation and intubation are unsuccessful.

The vignette describes an infant with a sustained post-delivery brachial plexus injury that does not improve with time. MRI is the most appropriate intervention to assess the injury and evaluate the treatment options.

Clinical signs of early pregnancy-Amenorrhoea-Nausea and vomiting -Breast enlargement and tenderness -Hyperpigmentation of the areola and formation of linea nigra: Most likely due to increased levels of melanocyte-stimulating hormone produced by the placenta -Increased urinary frequency-Fatigue-Cravings for or aversions to certain foods-Abdominal bloating and constipation

Frequent regurgitation of milk and microcytic anaemia is suggestive of a hiatus hernia. The reflux causes regurgitation of milk and frequent ulceration of the lower oesophageal mucosa potentially resulting in blood loss and anaemia. Duodenal atresia usually presents with bilious vomiting and pyloric stenosis presents with projectile vomiting. Alpha 1 antitrypsin deficiency and cystic fibrosis usually do not present with vomiting.

Upper respiratory tract infection when not treated accordingly can lead to otitis media and the patient presents with severe earache and fever.

The adult height potential may be calculated for a male child by (father’s height in cm + mother’s height in cm) / 2 then add 7 cm.In the scenario provided: (170 + 150)/2 + 7 = 167 cm = 1.67 m.For a female child by (father’s height in cm + mother’s height in cm) / 2 then minus 7 cm.This can then be plotted on a height centile chart to find the mid-parental centile.Causes of short stature include:- Normal variant (often familial)- Constitutional delay of growth and puberty- Chronic illness, e.g. cystic fibrosis, inflammatory bowel disease- Endocrine: growth hormone deficiency, hypothyroidism, steroid excess syndromes: Turner’s, Down’s, Prader-Willi- Skeletal dysplasias, e.g. achondroplasia

Oesophageal atresia refers to a congenitally interrupted oesophagus. One or more fistulae may be present between the malformed oesophagus and the trachea. The lack of oesophageal patency prevents swallowing. In addition to preventing normal feeding, this problem may cause infants to aspirate and literally drown in their own saliva, which quickly overflows the upper pouch of the obstructed oesophagus. If a tracheoesophageal fistula (TEF) is present, fluid (either saliva from above or gastric secretions from below) may flow directly into the tracheobronchial tree.The complete absence of gas in the GI tract denotes the absence of a distal tracheoesophageal fistula (TEF)| however, distal fistulae simply occluded by mucous plugs have been rarely reported.If no distal TEF is present, a gastrostomy may be created. In such cases, the stomach is small, and laparotomy is required. In all cases of oesophageal atresia in which a gastrostomy is created, care should be taken to place it near the lesser curvature to avoid damaging the greater curvature, which can be used in the formation of an oesophageal substitute. When a baby is ventilated with high pressures, the gastrostomy may offer a route of decreased resistance, causing the ventilation gases to flow through the distal fistula and out the gastrostomy site. This condition may complicate the use of ventilation.

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

External oblique forms the outermost muscle of the three muscles comprising the anterolateral aspect of the abdominal wall. Its aponeurosis comprises the anterior wall of the inguinal canal.

The clinical presentation is typical of a slipped femoral epiphysis, which refers to a fracture through the growth plate (physis), resulting in slippage of the overlying end of the femur. It is the most common hip disorder in adolescence. SCFEs usually cause groin pain on the affected side, but sometimes cause knee or thigh pain. The range of motion in the hip is restricted in internal (medial) rotation, abduction, and flexion.

Favus is a fungal infection of the scalp, resulting in the formation of a yellowish crusted plaque over the scalp and leads to scar formation with alopecia. Tinea capitus is a fungal infection of the scalp resulting in scaling and non scarring hair loss. Folliculitis presents with multiple perifollicular papules which can be caused by both bacteria and fungi. Cradle cap usually affects infants where the whole scalp is involved. It can lead to hair loss and responds to topical antifungals and keratolytics.

The Meckel’s diverticulum is a vestigial remnant of the omphalomesenteric duct. This structure is also referred to as the vitelline and contains two types of ectopic tissue, namely| gastric and pancreatic.

An incarcerated indirect inguinal hernia presents with abdominal pain, bloating, nausea, vomiting, and intestinal obstruction. It is characterized by the appearance of a tender mass in the inguinal area. Manual reduction in children requires analgesia and sedation.

Hyposplenism usually occurs after the surgical removal of the spleen or in pathological processes where the splenic tissue is replaced with abnormal tissue. It is often associated with diseases such as sickle cell disease, Coeliac disease, SLE and Dermatitis Herpetiformis. Myxoedema however bears no known association with hyposplenism. Patients with hyposplenism are at risk of fulminant bacterial infection.

Neurofibromatosis is a genetic disease caused by the mutation of the neurofibromin gene on Chromosome 17. The diagnostic criteria for Neurofibromatosis type 1 are two or more of the following:-6 or more cafe au lait macules-2 or more cutaneous neurofibroma or one plexiform Neurofibroma-Axillary of groin freckling -Optic pathway glioma -2 or more Lisch nodules (hamartomas of the iris seen on slit lamp examination)-Bony dysplasia (such as sphenoid wing dysplasia, bowing of the long bones, or pseudarthrosis)-First degree relative with neurofibromatosis type 1

4-year-old milestonesSocial and EmotionalEnjoys doing new things Plays “Mom” and “Dad” Is more and more creative with make-believe play Would rather play with other children than by himself Cooperates with other children Often can’t tell what’s real and what’s make-believe Talks about what she likes and what she is interested in Language/CommunicationKnows some basic rules of grammar, such as correctly using “he” and “she” Sings a song or says a poem from memory such as the “Itsy Bitsy Spider” or the “Wheels on the Bus” Tells stories Can say first and last nameCognitive (learning, thinking, problem-solving)Names some colours and some numbers Understands the idea of counting Starts to understand time Remembers parts of a story Understands the idea of “same” and “different” Draws a person with 2 to 4 body parts Uses scissors Starts to copy some capital letters Plays board or card games Tells you what he thinks is going to happen next in a book Movement/Physical DevelopmentHops and stands on one foot up to 2 seconds Catches a bounced ball most of the time Pours, cuts with supervision, and mashes own food

Exposure to excessive androgens is usually accompanied by premature epiphyseal maturation and closure, resulting in a final adult height that is typically significantly below that expected from parental heights. congenital adrenal hyperplasia (CAH) is associated with precocious puberty caused by long term exposure to androgens, which activate the hypothalamic-pituitary-gonadal axis. Similarly, CAH is associated with hyperpigmentation and hyperreninemia due to sodium loss and hypovolaemia.

Intussusception is an urgent condition that must be excluded first as it may lead to life-threatening complications.

Milestones of 3 years old:Social and Emotional:Copies adults and friends Shows affection for friends without prompting Takes turns in games Shows concern for crying friend Understands the idea of “mine” and “his” or “hers” Shows a wide range of emotions Separates easily from mom and dad May get upset with major changes in routineDresses and undresses self Language/Communication:Follows instructions with 2 or 3 steps Can name most familiar things Understands words like “in,” “on,” and “under” Says first name, age, and sexNames a friend Says words like “I,” “me,” “we,” and “you” and some plurals (cars, dogs, cats) Talks well enough for strangers to understand most of the time Carries on a conversation using 2 to 3 sentences Cognitive (learning, thinking, problem-solving):Can work toys with buttons, levers, and moving parts Plays make-believe with dolls, animals, and people Does puzzles with 3 or 4 pieces Understands what “two” means Copies a circle with pencil or crayon Turns book pages one at a time Builds towers of more than 6 blocks Screws and unscrews jar lids or turns door handle Movement/Physical Development:Climbs well Runs easily Pedals a tricycle (3-wheel bike) Walks up and down stairs, one foot on each step

Henoch-Schönlein purpura (HSP) rashes are commonly found on the legs, feet, and buttocks while Immune thrombocytopenia (ITP) rashes manifest predominantly on the lower legs. HSP happens following a sore throat while ITP usually happens following an URTI or Flu. HSP is an inflammation of a blood vessel (vasculitis) while ITP is immune mediated insufficiency of platelets.

The hypothalamus and pituitary gland control how much testosterone the testes produce and secrete. The hypothalamus sends a signal to the pituitary gland to release gonadotrophic substances (follicle stimulating hormone and luteinizing hormone). Luteinizing hormone (LH) stimulates testosterone production.

Among the provided options, we would expect a normally developing 18-month-old child to be able to carry toys while walking.At 18 months, a normally developing child will show the following gross motor abilities:- walks with the feet slightly apart- runs carefully with the head held high- pushes and pulls objects around the floor- walks upstairs if the hand is held- kneels on a flat surface without support- carry toys while walking.Other options:- Intentionally kicking a ball is a skill typically acquired by 2.5 years, not 18 months.- Jumping with two feet together from a small step is usually acquired by 2.5 years, not 18 months.- Propelling a tricycle forwards by pushing with the feet on the floor is a milestone generally acquired by 2 years, not 18 months.- Throwing a small ball overhand without falling is a milestone for children aged 2 years, not 18 months.

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.

This girl most likely has Turner syndrome (TS) also known as 45,X, a condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, they are without menstrual periods, do not develop breasts, and are unable to have children. Heart defects, diabetes, and low thyroid hormone occur more frequently. Most people with TS have normal intelligence. Many, however, have troubles with spatial visualization such as that needed for mathematics. Vision and hearing problems occur more often. Turner syndrome is not usually inherited from a person’s parents. No environmental risks are known and the mother’s age does not play a role. As a chromosomal condition, there is no cure for Turner syndrome. However, much can be done to minimize the symptoms including prescribing growth hormone, either alone or with a low dose of androgen, and oestrogen replacement therapy which is crucial long term for maintaining good bone integrity, cardiovascular health and tissue health

Presentation can vary by individual. Early stages are often characterized by malaise, fatigue, and lethargy. One to 3 months of inadequate intake can lead to anaemia, myalgia, bone pain, easy bruising (Figure 3), swelling, petechiae, perifollicular haemorrhages, corkscrew hairs, gum disease, poor wound healing, mood changes, and depression. Perifollicular haemorrhages and easy bruising are often first seen in the lower extremities, as capillary fragility leads to an inability to withstand hydrostatic pressure. Late stages of scurvy are more severe and life threatening| common manifestations include generalized oedema, severe jaundice, haemolysis, acute spontaneous bleeding, neuropathy, fever, convulsions, and death.

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 progesterone is primarily responsible for preventing pregnancy. The main mechanism of action is the prevention of ovulation| they inhibit follicular development and prevent ovulation. Progestogen negative feedback works at the hypothalamus to decreases the pulse frequency of gonadotropin-releasing hormone. This, in turn, will decrease the secretion of follicle-stimulating hormone (FSH) and decreases the secretion of luteinizing hormone (LH). If the follicle isn’t developing, then there is no increase in the oestradiol levels (the follicle makes oestradiol). The progestogen negative feedback and lack of oestrogen positive feedback on LH secretion stop the mid-cycle LH surge. With no follicle developed and no LH surge to release the follicle, there is the prevention of ovulation. Oestrogen has some effect with inhibiting follicular development because of its negative feedback on the anterior pituitary with slows FSH secretion| it’s just not as prominent as the progesterone’s effect. Another primary mechanism of action is progesterone’s ability to inhibit sperm from penetrating through the cervix and upper genital tract by making the cervical mucous unfriendly. Progesterone induced endometrial atrophy should deter implantation, but there is no proof that this occurs.

The most common cause of homonymous hemianopia (HH) is a stroke. In this condition there is bitemporal field loss. Lesions posterior to the optic chiasm, in the brain parenchyma are most likely to be the cause of the HH. In this case the retention of central vision indicates that the area of injury may be in the occipital cortex, sparing the occipital pole. The occipital pole receives sensory fibres from the macular, and has a dual blood supply protecting it from total infarction. Lesions of the optic tract can be ruled out as these cause total vision loss in the affected eye. Parietal or temporal nerve lesions cause affect the inferior and superior parts of the visual field respectively causing homonymous quadrantinopias.

Hyperkalaemia presents with high voltage (peaked) T waves on ECG. Other features on ECG include smaller p-waves and wider QRS complexes.

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.

Miliaria is a common skin disease caused by blockage and/or inflammation of eccrine sweat ducts. Miliaria is frequently seen in hot, humid or tropical climates, in patients in the hospital, and in the neonatal period. Miliaria is also known as sweat rash.Based on the level of the sweat duct obstruction, miliaria is divided into three subtypes:- Miliaria crystallina (sudamina), caused by obstruction of the sweat ducts close to the surface of the skin (epidermis)|- Miliaria rubra, caused by obstruction of the sweat ducts deeper in the epidermis|- Miliaria profunda (tropical anhidrosis), the result of sweat leaking into the middle layer of skin (dermis).Miliaria crystallina appears as 1–2 mm superficial clear blisters that easily break. The blisters can look like beads of sweat. There is no inflammation. The blisters are usually seen widely spread on the head, neck, and upper trunk.Miliaria rubra is the most common type of miliaria results in red, 2–4 mm, non-follicular papules and papulovesicles. They are very itchy. Background erythema is often present. In children, miliaria affects the skin folds of the neck, axilla or groin. In adults, miliaria often affects the upper trunk, scalp, neck and flexures, particularly areas of friction with clothing. Miliaria pustulosa is a variant of milia rubra in which there are pustules.Miliaria profunda describes asymptomatic deep papules. The flesh–coloured, 1–3 mm diameter papules usually arise on the trunk and extremities.Mild Topical steroids can be used as a treatment