Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive defects in enzymes that are responsible for cortisol, aldosterone, and, in very rare cases, androgen synthesis. All forms of CAH are characterized by low levels of cortisol, high levels of ACTH, and adrenal hyperplasia. The exact clinical manifestations depend on the enzyme defect. The most common form of CAH, which is caused by a deficiency of 21β-hydroxylase, presents with hypotension, ambiguous genitalia, and virilization (in the female genotype), and/or precocious puberty (in both males and females). It is further characterized by hyponatremia, hyperkalaemia, and metabolic acidosis. Increased levels of 17-hydroxyprogesterone confirm the diagnosis of 21β-hydroxylase deficiency. Treatment of CAH involves lifelong glucocorticoid replacement therapy. Patients with a 21β-hydroxylase deficiency also require mineralocorticoid replacement with fludrocortisone. Complications of CAH include severe hypoglycaemia, adrenal insufficiency, and/or a failure to thrive.

The red reflex examination is an important part of the paediatric ocular assessment. The red reflex is abnormal in conditions like retinoblastoma, retinopathy of prematurity, cataract, and retinal detachment. Amblyopia is a cortical developmental disorder that results in defective visual inputs to both the eyes. The disorder occurs during the cortical plasticity stage of embryonic development. The red reflex is normal in this case since there is no hindrance to the reflection of light from the ocular media and fundus.

Hassall’s corpuscles are groups of epithelial cells within the thymic medulla. The physical nature of these structures differs between mammalian species. Although Hassall’s corpuscles have been proposed to act in both the removal of apoptotic thymocytes and the maturation of developing thymocytes within the thymus, the function of Hassall’s corpuscles has remained an enigma.

The thymus is a lymphoid organ located in the anterior mediastinum. In early life, the thymus is responsible for the development and maturation of cell-mediated immunologic functions. The thymus is composed predominantly of epithelial cells and lymphocytes. Precursor cells migrate to the thymus and differentiate into lymphocytes. Most of these lymphocytes are destroyed, with the remainder of these cells migrating to tissues to become T cells.DiGeorge’s syndrome (DGS) is a developmental abnormality affecting the thymus. The classic triad of features of DGS on presentation is conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcaemia (resulting from parathyroid hypoplasia).

The most prudent course of action in the given clinical scenario is an ovary-sparing cystectomy. The history is 3-months and is already chronic. Furthermore, the cyst is greater than 5cm in size and at risk of torsion. This will relieve the cause of pain, reduce the risk of torsion and save ovarian function.Other options:- This is a simple cyst and not a malignancy, so imaging and referral are not indicated.- Open oophorectomy was done in the past. However, this is very aggressive, and the modern approach is ovary-sparing.- As the cyst is 7cm and at risk of torsion, conservative management is not appropriate.

Cranial nerves I, II, and VIII are considered purely afferent nerves since they conduct sensory information from the olfactory region, the retina of the eye, and the inner ear structures, respectively.Cranial nerves III, IV, VI, XI, and XII are considered purely efferent due to their motor output to the orbit, the neck, and the tongue.Cranial nerves V, VII, IX, and X are considered mixed cranial nerves due to the presence of afferent and efferent fibres with both sensory and motor components.

Most infants have a good heart rate after birth and establish breathing by about 90 s. If the infant is not breathing adequately aerate the lungs by giving 5 inflation breaths, preferably using air. Until now the infant’s lungs will have been filled with fluid.

Standard deviation is defined as the measure of dispersion of a set of data from its mean. It measures the absolute variability of a distribution| the higher the dispersion or variability, the greater is the standard deviation and greater will be the magnitude of the deviation of the value from their mean.

The most common organism responsible for tinea capitis is Trichophyton tonsurans.Tinea is a term given to dermatophyte fungal infections. There are three types of tinea, depending on what part of the body is infected:- Tinea capitis – scalp- Tinea corporis – trunk, legs or arms- Tinea pedis – feetTinea capitis (scalp ringworm):It is a cause for scarring alopecia mainly seen in children.If untreated, it can form a raised pustular, spongy/boggy mass called a kerion.The most common cause of tinea capitis in the UK and the USA is Trichophyton tonsurans.Tinea can also be caused by Microsporum canis acquired from cats or dogs.The diagnosis of tinea capitis and identification of the organism is possible from the skin lesions:- Scalp scrapings and Potassium hydroxide (KOH) mounts.- Wood’s lamp: Microsporum canis produces a green fluorescence under Wood’s lamp examination.Treatment: – Oral antifungals: terbinafine for Trichophyton tonsurans infections.- Griseofulvin for Microsporum infections. – Topical ketoconazole shampoo is recommended for the first two weeks to limit the transmission of the infection.

Fitz-Hugh-Curtis syndrome (FHCS), or perihepatitis, is a chronic manifestation of pelvic inflammatory disease (PID). It is described as an inflammation of the liver capsule, without the involvement of the liver parenchyma, with adhesion formation accompanied by right upper quadrant pain. A final diagnosis can be made through laparoscopy or laparotomy via direct visualization of violin string-like adhesions or through hepatic capsular biopsy and culture. FHCS is a complication of PID. Microorganisms associated with PID are thought to spread in one of three ways:-Through spontaneous ascending infection, microbes from the cervix or vagina travel to the endometrium, through the fallopian tubes, and into the peritoneal cavity. Complications include endometritis, salpingitis, tubo-ovarian abscess, pelvic peritonitis, and perihepatitis.-Microbes can also spread via lymphatic channels such as an infection of the parametrium from an intrauterine device.-Finally, the hematogenous spread is also possible such as with tuberculosis.

Croup is the most common aetiology for hoarseness, cough, and onset of acute stridor in febrile children. Symptoms of coryza may be absent, mild, or marked. The vast majority of children with croup recover without consequences or sequelae.

Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.People with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth (philtrum), widely spaced eyes that are usually pale blue or blue-green in colour, and low-set ears that are rotated backwards. Affected individuals may have a high-arched palate, poor teeth alignment, and micrognathia. Many children with Noonan syndrome have a short neck, and both children and adults may have excess neck skin (also called webbing) and a low hairline at the back of the neck.Between 50 and 70 % of individuals with Noonan syndrome have short stature. At birth, they are usually a normal length and weight, but growth slows over time. Individuals with Noonan syndrome often have either a pectus excavatum or pectus carinatum. Some affected people may also have scoliosis.Most people with Noonan syndrome have some form of critical congenital heart disease. The most common heart defect in these individuals is pulmonary valve stenosis. Some have hypertrophic cardiomyopathy.A variety of bleeding disorders have been associated with Noonan syndrome. Some affected individuals have excessive bruising, nosebleeds, or prolonged bleeding following injury or surgery. Rarely, women with Noonan syndrome who have a bleeding disorder have excessive bleeding during menstruation (menorrhagia) or childbirth.Adolescent males with Noonan syndrome typically experience delayed puberty. They go through puberty starting at age 13 or 14 and have a reduced pubertal growth spurt that results in shortened stature. Most males with Noonan syndrome have undescended testes (cryptorchidism), which may contribute to infertility (inability to father a child) later in life. Females with Noonan syndrome can experience delayed puberty but most have normal puberty and fertility.Most children diagnosed with Noonan syndrome have normal intelligence, but a few have special educational needs, and some have an intellectual disability. Some affected individuals have vision or hearing problems. It has been estimated that children with Noonan syndrome have an eightfold increased risk of developing leukaemia or other cancers over age-matched peers.

PARACHUTE REFLEX: This reflex occurs in slightly older infants when the child is held upright and the baby’s body is rotated quickly to face forward (as in falling). The baby will extend his arms forward as if to break a fall, even though this reflex appears long before the baby walks.Newborn reflexes are:Rooting reflex:This reflex starts when the corner of the baby’s mouth is stroked or touched. The baby will turn his or her head and open his or her mouth to follow and root in the direction of the stroking. This helps the baby find the breast or bottle to start feeding. This reflex lasts about 4 months.Suck reflex:Moro reflex:The Moro reflex is often called a startle reflex. That’s because it usually occurs when a baby is startled by a loud sound or movement. In response to the sound, the baby throws back his or her head, extends out his or her arms and legs, cries, then pulls the arms and legs back in. This reflex lasts until the baby is about 2 months old.Tonic neck reflex:When a baby’s head is turned to one side, the arm on that side stretches out and the opposite arm bends up at the elbow. This is often called the fencing position. This reflex lasts until the baby is about 5 to 7 months old.Grasp reflex:Stroking the palm of a baby’s hand causes the baby to close his or her fingers in a grasp. The grasp reflex lasts until the baby is about 5 to 6 months old. A similar reflex in the toes lasts until 9 to 12 months.Stepping reflex:This reflex is also called the walking or dance reflex because a baby appears to take steps or dance when held upright with his or her feet touching a solid surface. This reflex lasts about 2 months.

Bacterial meningitis (including meningococcal meningitis, Haemophilus influenzae meningitis, and staphylococcal meningitis) is a neurologic emergency that is associated with significant morbidity and mortality. Initiation of empiric antibacterial therapy is therefore essential for better outcomes. The patient appears to be suffering from meningitis caused by Staphylococcus aureus. Methicillin would be the drug of choice . It is bactericidal and unlike streptomycin and chloramphenicol it is not associated with toxicity

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.

Haemolytic-uremic syndrome (HUS) is a clinical syndrome characterized by progressive renal failure that is associated with microangiopathic (nonimmune, Coombs-negative) haemolytic anaemia and thrombocytopenia. HUS is the most common cause of acute kidney injury in children. It predominantly occurs in infants and children after prodromal diarrhoea. In summer epidemics, the disease may be related to infectious causes.Bacterial infections may include the following:S dysenteriaeE ColiSalmonella typhiCampylobacter jejuniYersinia pseudotuberculosisNeisseria meningitidisS pneumoniaLegionella pneumophilaMycoplasma speciesRickettsial infections may include Rocky Mountain spotted fever and microtatobiotesViral infections may include the following:Human immunodeficiency virus (HIV)CoxsackievirusEchovirusInfluenza virusEpstein-Barr virusHerpes simplex virusFungal infections can include Aspergillus fumigatus.Vaccinations may include the following:Influenza triple-antigen vaccineTyphoid-paratyphoid A and B (TAB) vaccinePolio vaccinePregnancy-associated HUS occasionally develops as a complication of preeclampsia. Patients may progress to full-blown haemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome. Postpartum HUS usually occurs within 3 months of delivery. The prognosis is poor, with a 50-60% mortality rate, and residual renal dysfunction and hypertension occur in most patients.

Noonan syndrome is one of the most common genetic diseases associated with congenital heart defects, being second in frequency only to Down syndrome.Pulmonary stenosis and hypertrophic cardiomyopathy are generally the most common congenital heart defects found in Noonan syndrome.Pulmonary stenosis is often associated with a thickened and dysplastic valve. It is usually difficult to obtain a satisfactory result using the transcatheter balloon dilatation of such dysplastic valves, so surgical intervention is more likely to be needed.Hypertrophic cardiomyopathy involves predominantly the ventricular septum as asymmetric septal hypertrophy, but may also affect the ventricular free walls. Left ventricular outflow tract obstruction may occasionally be produced.

The drainage of cerebral spinal fluid from the third ventricle to the fourth ventricle is carried out by the cerebral aqueduct. The cerebral aqueduct is the narrowest passageway in the entire ventricular system and thus forms the most common site of blockage of flow of cerebrospinal fluid. The interventricular foramen allows passage of CSF to the third ventricle. The foramen of Luschka and Magendie are located on the fourth ventricle and allow passage of CSF to the subarachnoid space from the ventricular system. The pontine cistern is a space located on the ventral aspect of the pons. The cisterna magna is an opening on the subarachnoid space between the pia matter and the arachnoid.

The likely diagnosis in this case is Haemolytic Uremic Syndrome (HUS), which is generally seen in young children presenting with a triad of symptoms, namely: acute renal failure, microangiopathic haemolytic anaemia, and thrombocytopenia. The typical cause of HUS is ingestion of a strain of Escherichia coli.

A low serum free T4 level with a low, or normal serum TSH level would indicate secondary hypothyroidism. A normal TSH response to TRH is a rise at 20 minutes post-dose and then a fall by 60 minutes, while a normal prolactin response would be a rise at 20 minutes and then a fall by 60 minutes. A continued rise of TSH at 60 minutes implies hypothalamic damage. Secondary hypothyroidism is indicated by a low baseline TSH level, while primary hypothyroidism is demonstrated by a raised TSH.

Biliary atresia is a rare condition that usually becomes symptomatic 2 to 8 weeks after birth. It can be congenital or acquired. Typical symptoms include jaundice, weight loss, dark urine and pale stools.

The patient’s clinical presentation is highly suggestive of Charcot–Marie–Tooth syndrome.It is a hereditary sensory and motor neuropathy. It is also the commonest cause of inherited peripheral neuropathy. The lower motor neuron signs are usually mild in childhood, the age of onset is very variable, and the distal weakness can take years to progress. It is not fatal and does not affect the normal life expectancy.

Craniopharyngiomas (also known as Rathke pouch tumours, adamantinomas or hypophyseal duct tumours) affect children mainly between the age of 5 and 10 years. It constitutes 9% of brain tumours affecting the paediatric population. These are slow-growing tumours which can also be cystic, and arise from the pituitary stalk, specifically the nests of epithelium derived from Rathke’s pouch. Histologically, this tumour shows nests of squamous epithelium which is lined on the outside by radially arranged cells. Calcium deposition is often seen with a papillary type of architecture.
ACTH-secreting pituitary adenomas are rare and mostly microadenomas. Paediatric astrocytoma’s usually occur in the posterior fossa. Although null cell adenomas can cause mass effect and give rise to the described symptoms, they are not suprasellar. Prolactinomas can also show symptoms of headache and disturbances in the visual field, however they are known to be small and slow-growing.

The baby is not clearing CO2 normally despite normal oxygenation so we should increase the delta P. Higher delta P will increase tidal volume and hence CO2 removal.After 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.

According to the US immunisation schedule, the child is immunised. So this boy does not need any extra immunisation for tetanus now.

The general target of weight gain in the neonatal intensive care unit is to replicate the intrauterine growth in the third trimester, which equates to the daily weight gain of nearly 15 g/kg/day with infants receiving 120 kcal/kg/day

3-year-old milestonesSocial and EmotionalCopies 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/CommunicationFollows 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 a pencil or crayon Turns book pages one at a time Builds towers of more than 6 blocks Screws and unscrews jar lids or turns the door handle Movement/Physical DevelopmentClimbs well Runs easily Pedals a tricycle (3-wheel bike) Walks up and downstairs one foot on each step

A supracondylar humerus fracture is a fracture of the distal humerus just above the elbow joint. The fracture is usually transverse or oblique and above the medial and lateral condyles and epicondyles. This fracture pattern is relatively rare in adults, but is the most common type of elbow fracture in children. They are historically associated with morbidity due to malunion, neurovascular complications, and compartment syndrome. Important arteries and nerves ( median nerve, radial nerve, brachial artery, and ulnar nerve) are located at the supracondylar area and can give rise to complications if these structures are injured. Most vulnerable structure to get damaged is Median Nerve. Damage/occlusion of the brachial artery is the cause of an absent radial pulse.

Breast milk jaundice is thought to be associated with one or more abnormalities in the maternal milk itself. Breast milk jaundice syndrome generally needs no therapy if serum bilirubin concentrations remain below 270 mmol/l in healthy full-term infants. When the serum bilirubin concentration is above 270 mmol/l and rising, temporary interruption of breastfeeding may be indicated.

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years.