Developmental milestones at the age of 2 months are as follows:Social and Emotional:- Begins to smile at people – Can briefly calm herself (may bring hands to mouth and suck on hand)- Tries to look at the parents Language/Communication:- Coos, makes gurgling sounds – Turns head toward sounds Cognitive (learning, thinking, problem-solving):- Pays attention to faces – Begins to follow things with eyes and recognize people at a distance – Begins to act bored (cries, fussy) if an activity doesn’t changeMovement/Physical Development:- Can hold head up and begins to push up when lying on tummy – Makes smoother movements with arms and legs

The thyroid gland is one of the first endocrine glands to develop, and is formed from the endoderm of the epithelial tissue of the primitive pharynx. The mature gland is functionally made up of follicles with colloid which contain the pro hormone thyroglobulin. Thyroid hormone is synthesised at a cellular level and is stored as thyroglobulin, before its release as thyroid hormone, a major modulator of metabolism. In between the follicular cells are parafollicular, or C-cells which secrete parathyroid hormone or calcitonin which are responsible for calcium regulation in the body.

Trendelenburg gait is an abnormal gait resulting from a defective hip abductor mechanism. The primary musculature involved is the gluteal musculature, including the gluteus medius and gluteus minimus muscles. The weakness of these muscles causes drooping of the pelvis to the contralateral side while walking.Any pathology of the fulcrum, load, effort or the lever which binds all three will lead to a positive Trendelenburg gait.Failure of the fulcrum presents in the following conditions:Osteonecrosis of hipLegg-Calve-Perthes diseaseDevelopmental dysplasia of the hipChronically dislocated hips secondary to traumaChronically dislocated hips secondary to infections like tuberculosis of the hipFailure of the lever is a feature in the following conditions:Greater trochanteric avulsionNon-union of the neck of the femurCoxa VaraFailure of effort presents in the following conditions:PoliomyelitisL5 radiculopathySuperior gluteal nerve damageGluteus medius and minimus tendinitisGluteus medius and minimus abscessPost total hip arthroplastyThe gait of Juvenile idiopathic arthritis patients can be explained as a crouch-like gait with hyperflexion in hip and knee joints and less plantar flexion in the ankle

In a child with an age of 12 months – pincer grasp should be well developed. It is essential to have a good grasp of important milestones. Most 12-month-old children will be mobile, by standing holding onto a support, lifting one foot and moving it sideways (‘cruising’ around the furniture). They will demonstrate a neat pincer grasp, e.g. picking up a raisin or piece of paper between the tip of the index finger and the thumb. Words (or meaningful word-like utterances) are produced, but words are not usually chosen and put together deliberately by a child until after the second birthday (typically around the age of 30 months). Word combinations used earlier than this are likely to be an echo of a learnt phrase which may be understood by the child to be one single word even though they are a combination of more than one word (e.g. daddy, home). Building a tower of three cubes and following a one-step command such as ‘take off your socks’, is expected at 18 months.

Cranial nerve II (CN II or optic nerve) runs along the midline of the ventral surface of the brain and conveys visual information from the retina of each eye to the corresponding region of the primary visual cortex. The right half of the visual field of both eyes is processed by the left half of the retina, while the right half of the retina processes the left half of the visual field. These retinal ganglion cells project myelinated axons, carrying CN II sensory afferent fibres, through the optic chiasm, where optic nerve fibres from the nasal half of each retina decussate to the contralateral side of the brain for processing. After passing through the optic chiasm, the optic nerve becomes the optic tract that synapses to the lateral geniculate nucleus (LGN) of the thalamus and subsequently projects optic radiations to the primary visual cortex (V1) of the occipital lobe. The optic tract also projects to the superior colliculus, pretectal nuclei, and suprachiasmatic nuclei. This part of the optic pathway serves the important light reflex.Due to the anatomical location of the optic chiasm superior to the pituitary gland, a suprasellar extension of a pituitary macroadenoma will lead to compression of the optic nerve fibres decussating at the optic chiasm. Impingement of these nerves prevents visual information from the temporal visual fields of each eye from reaching the processing centres in the brain, leading to peripheral vision loss

The anti-B antibodies in a patient with blood group A belong to the IgM class of immunoglobulins.Note:IgM is the largest antibody formed of 5 antibodies attached together. This functions to agglutinate or clump antigens. The associated anti-A and anti-B antibodies are usually IgM produced in the first years of life by sensitisation to environmental substances such as food, bacteria, and viruses.Other options:- IgG is the most common antibody. It is a single antibody complex.- IgD is found on the surface of B-lymphocytes.- IgE is bound to tissue cells, especially mast cells and eosinophils.

Primitive reflexes are central nervous system responses, many of which disappear as a child matures. Retention of these reflexes may point to atypical neurology such as in cerebral palsy or stroke. However, some persist into adulthood. The stepping reflex is present from birth and normally disappears by 6 weeks, while the moro reflex is present from birth to about 4 months. The asymmetrical tonic neck reflex disappears by about 6 months. Reflexes that persist include the head righting reflex which develops at 6 months, and the parachute reflex which develops at 9 months.

A patient with Down’s syndrome is likely to be subfertile rather than infertile.Down’s syndrome:The clinical features of Down’s syndrome include:- Face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small ears, and round/flat face- Flat occiput- Single palmar crease, pronounced ‘sandal gap’ in the first interdigital space of the feet.- Hypotonia- Congenital heart defects (40-50%)- Duodenal atresia- Hirschsprung’s diseaseThe cardiac complications in these patients include:- Endocardial cushion defect (40%)- Ventricular septal defect (30%)- Secundum atrial septal defect (10%)- Tetralogy of Fallot (5%)- Isolated patent ductus arteriosus (5%)The complications that occur later in the life of the patient include:- Subfertility: Males are almost always infertile due to impaired spermatogenesis. Females, however, are usually subfertile and have an increased incidence of problems with pregnancy and labour.- Learning difficulties- Short stature- Repeated respiratory infections (+hearing impairment from glue ear)- Acute lymphoblastic leukaemia- Hypothyroidism- Alzheimer’s disease- Atlantoaxial instability

Mild deficiencies of 21-hydroxylase or 3-beta-hydroxysteroid dehydrogenase activity may present in adolescence or adulthood with oligomenorrhea, hirsutism, and/or infertility. This is termed nonclassical adrenal hyperplasia.Late-onset or nonclassical congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence ranges from 1 in 30 to 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen excess. Treatment needs to be directed toward the symptoms. Goals of treatment include normal linear growth velocity, a normal rate of skeletal maturation, ‘on-time’ puberty, regular menstrual cycles, prevention of or limited progression of hirsutism and acne, and fertility. Treatment needs to be individualized and should not be initiated merely to decrease abnormally elevated hormone concentrations.Normal Ultrasound rules out Turner’s syndrome.

Von Willebrand disease (VWD), a congenital bleeding disorder caused by deficient or defective plasma von Willebrand factor (VWF), may only become apparent on haemostatic challenge, and bleeding history may become more apparent with increasing age. Type 1 VWD (,30% of VWD) typically manifests as mild mucocutaneous bleeding. Type 2 VWD accounts for approximately 60% of VWD. Type 2 subtypes include: Type 2A, which usually manifests as mild-to-moderate mucocutaneous bleeding| Type 2B, which typically manifests as mild-to-moderate mucocutaneous bleeding that can include thrombocytopenia that worsens in certain circumstances| Type 2M, which typically manifests as mild-moderate mucocutaneous bleeding| Type 2N, which can manifest as excessive bleeding with surgery and mimics mild haemophilia A. Type 3 VWD (<10% of VWD) manifests with severe mucocutaneous and musculoskeletal bleeding.

History of recurrent infections and failure to thrive (probably due to pancreatic enzyme insufficiency) is highly suggestive of cystic fibrosis. Pseudomonas has been identified as an important respiratory pathogen in patients with cystic fibrosis.

Erythema infectiosum is an acute viral illness caused by Parvovirus B19. It is usually a mild flu-like illness and produces a maculopapular rash, appearing initially on the cheeks and then spreading towards extremities. The rash usually spares the palms and soles and gives a slapped appearance to the cheeks. It can be described as having a fishnet appearance on the body.

Odds ratios are best described as the odds of an event in one group divided by the odds of the event in another. They form an alternative to the relative risk in case–control studies and are close to the relative risk when events are rare. The odds are the number of the event divided by the number without the event, which is less intuitive than the risk, which is the number with the event divided by the total. Odds ratios are therefore less intuitive than relative risks. Logistic regression analysis outputs variable coefficients which are the log of the odds ratio.

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.

Identify babies as being more likely to develop significant hyperbilirubinemia if they have any of the following factors:- gestational age under 38 weeks- a previous sibling with neonatal jaundice requiring phototherapy- mother’s intention to breastfeed exclusively- visible jaundice in the first 24 hours of life.

Scaphoid fractures are regarded as fractures that are difficult to heal, so a classification system is needed taking different factors into account that should lead towards proper guidance to the healing time and management of these fractures. Popular classification criteria are Herbert, Russe, and Mayo classification systems. Herbert’s classification system is based on the fracture’s stability and proposes that all complete bicortical fractures (except for tubercle fractures) are unstable. Salter-Harris classification is used for categorizing epiphyseal fractures, while Delbert classification system is reserved for fractures of the proximal femur in children. Fractures of the ankles are classified using Ottawa rules, and Garland classification is used for supracondylar fractures in children.

Erb’s palsy is a paralysis of the arm caused by injury to the brachial plexus, specifically the severing of the upper trunk C5–C6 nerves.The infant with an upper plexus palsy (C5-C7) keeps the arm adducted and internally rotated, with the elbow extended, the forearm pronated, the wrist flexed, and the hand in a fist. In the first hours of life, the hand also may appear flaccid, but strength returns over days to months.The right side is injured in 51% of cases. Left side occurs in 45% of patients and bilateral injuries, in 4%.

The first sign of pubarche in females is breast-bud development (thelarche).This begins between the ages of 9 and 12 years and continues to 12–18 years. Pubic hair growth occurs next (said to occur in stage 3), at ages 9–14 years, and is complete at 12–16 years. Menarche occurs relatively late in stage 4 (age 11–15 years) and is associated with a deceleration in growth. The peak height velocity is reached earlier (10–13 years) and growth is completed much earlier than in boys.

Familial/inherited short stature is the most likely and commonest factor resulting in short stature among the children. Klinefelter syndrome is characterised by tall stature, widely spaces nipples and infertility. Other factors include congenital heart disease, maternal deprivation and diabetes mellitus but these are the rare causes.

Aplastic anaemia causes a deficiency of all blood cell types: red blood cells, white blood cells, and platelets. It is more frequent in people in their teens and twenties, but is also common among the elderly. It can be caused by heredity, immune disease, or exposure to chemicals, drugs, or radiation. However, in about one-half of cases, the cause is unknown.The definitive diagnosis is by bone marrow biopsy| normal bone marrow has 30–70% blood stem cells, but in aplastic anaemia, these cells are mostly gone and replaced by fat.First-line treatment for aplastic anaemia consists of immunosuppressive drugs, typically either anti-lymphocyte globulin or anti-thymocyte globulin, combined with corticosteroids, chemotherapy and ciclosporin. Hematopoietic stem cell transplantation is also used, especially for patients under 30 years of age with a related matched marrow donor.

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.

The organisms most likely to cause post-splenectomy sepsis include:- Streptococcus pneumoniae- Haemophilus influenzae- MeningococciEncapsulated organisms carry the most significant pathogenic risk following splenectomy. Hyposplenism:It may complicate certain medical conditions where splenic atrophy occurs or maybe the result of medical intervention such as splenic artery embolization and splenectomy for trauma. The diagnosis of hyposplenism is difficult, and while there may be peripheral markers of the splenectomised state (e.g. Howell-Jolly bodies), these are neither 100% sensitive or specific. The most sensitive test is a radionucleotide labelled red cell scan.It dramatically increases the risk of post-splenectomy sepsis, particularly with encapsulated organisms. Since these organisms may be opsonized, but this then goes undetected at an immunological level due to loss of the spleen. For this reason, individuals are recommended to be vaccinated and have antibiotic prophylaxis.Key recommendations:- All those with hyposplenism or prior to an elective splenectomy should receive pneumococcal, Haemophilus type b and meningococcal type C vaccines. These should be administered two weeks before or two weeks following splenectomy. The vaccine schedule for meningococcal disease primarily consists of a dose of Men C and Hib at two weeks and then a dose of the MenACWY vaccine one month later. Those aged under two may require a booster at two years. A dose of pneumococcal polyvalent polysaccharide vaccine (PPV) is given at two weeks. A conjugate vaccine (PCV) is offered to young children. The PCV is more immunogenic but covers fewer serotypes. Boosting PPV is either guided by serological measurements (where available) or by routine boosting doses at five-yearly intervals.Annual influenza vaccination is recommended in all cases- Antibiotic prophylaxis is offered to all. The risk of post-splenectomy sepsis is highest immediately following splenectomy. Individuals with an inadequate response to pneumococcal vaccination are another high-risk group. High-risk individuals should be counselled to take penicillin or macrolide prophylaxis. Those at low risk may choose to discontinue therapy. All patients should be advised about taking antibiotics early in the case of intercurrent infections.- Asplenic individuals travelling to malaria-endemic areas are at high risk and should have both pharmacological and mechanical protection.

Answer: Obtain intravenous access, administer fluids and antibiotics.Intussusception is a condition in which one segment of intestine telescopes inside of another, causing an intestinal obstruction (blockage). Although intussusception can occur anywhere in the gastrointestinal tract, it usually occurs at the junction of the small and large intestines. The obstruction can cause swelling and inflammation that can lead to intestinal injury. The patient with intussusception is usually an infant, often one who has had an upper respiratory infection, who presents with the following symptoms:Vomiting: Initially, vomiting is nonbilious and reflexive, but when the intestinal obstruction occurs, vomiting becomes biliousAbdominal pain: Pain in intussusception is colicky, severe, and intermittentPassage of blood and mucus: Parents report the passage of stools, by affected children, that look like currant jelly| this is a mixture of mucus, sloughed mucosa, and shed blood| diarrhoea can also be an early sign of intussusceptionLethargy: This can be the sole presenting symptom of intussusception, which makes the condition’s diagnosis challengingPalpable abdominal massDiagnosis:Ultrasonography: Hallmarks of ultrasonography include the target and pseudo kidney signs.For all children, start intravenous fluid resuscitation and nasogastric decompression as soon as possible.

Laxatives have been shown to be beneficial in the treatment of chronic childhood constipation. Studies have shown that polyethylene glycol, mineral oil, magnesium hydroxide, and lactulose are effective and can be used for a prolonged periods without risk.

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

Bleeding oesophageal varices secondary to portal hypertension can cause a massive gastrointestinal haemorrhage resulting in shock. Perforated ulcer is less likely in this age group. Mallory Weiss tear would not likely result in a massive haemorrhage. Aorto-intestinal fistula is more common in older patients with abdominal aneurysms. Boerhaave’s syndrome is a result of a ruptured oesophagus following excessive vomiting.

Grommets are small tubes surgically inserted into the tympanic membrane to drain viscous inflammatory fluid found in the middle ear in bilateral otitis media with effusion of more than three months duration. There is no indication against using in ear headphones or flying. Swimming or snorkelling can be reinforced with ear plugs. However immersion of the child’s head in soapy water is to be avoided as the water is more likely to enter the ear.

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

The child requires frequent BP evaluation every 15 to 30 minutes. Normalisation of his BP should be achieved in a 48h interval. An ophthalmology assessment is indicated to check for acute injury of the blood vessels in the eye due to the elevated blood pressure.

Urine culture and sensitivity is used to diagnose a urinary tract infection (UTI). A mid-stream clean catch urine sample is the most common type of sample collected. It is important to follow the clean catch process to have accurate results from an uncontaminated sample. Urine cultures can also check for infections of the bladder or kidney.

Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. This condition is inherited in an X-linked recessive pattern It is characterized by neurological and behavioural abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. Excess uric acid can be released from the blood and build up under the skin and cause gouty arthritis (arthritis caused by an accumulation of uric acid in the joints). Uric acid accumulation can also cause kidney and bladder stones.The nervous system and behavioural disturbances experienced by people with Lesch-Nyhan syndrome include abnormal involuntary muscle movements, such as tensing of various muscles (dystonia), jerking movements (chorea), and flailing of the limbs (ballismus). People with Lesch-Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Self-injury (including biting and head banging) is the most common and distinctive behavioural problem in individuals with Lesch-Nyhan syndrome.

Melanoma, a highly malignant tumour arising from melanocytes, is the most common life-threatening dermatological disease. Risk factors include UV radiation exposure, particularly in light-skinned individuals that are easily sunburned, increasing age, family history, and immunosuppression. Lesions that are suspicious for melanoma should be excised with complete margins. Radical excision is not routinely undertaken for diagnostic purposes and therefore if subsequent histopathological assessment determines that the lesion is a melanoma a re-excision of margins may be required.Margins of excision-Related to Breslow thicknessLesions 0-1mm thick – 1cmLesions 1-2mm thick – 1- 2cm (Depending upon site and pathological features)Lesions 2-4mm thick – 2-3 cm (Depending upon site and pathological features)Lesions >4 mm thick – 3cm

The most probable diagnosis for this boy is primary hypothyroidism.Rationale:The development of secondary sexual characteristics in a boy aged less than 9 years of age is highly suggestive of precocious puberty.Around 80% of boys with precocious puberty have pathological causes and require detailed investigation. In this case, the child has long-standing short stature but coupled with the early puberty and delay in bone age, the diagnosis is primary hypothyroidism, which is the only cause of this clinical picture.

According to the NICE guidelines, the frequency of stool passage is considered constipation when two or more of the following findings are present: Fewer than 3 stools a week, large hard stools, stools that resemble rabbit droppings| symptoms associated with defecation including distress, bleeding or straining| a history of previous episodes of a precious/current anal fissure. The child in the scenario fails to meet the criteria, and has no evidence of impacted faeces on examination. The best course of action is to encourage the parents to give the child more water to prevent dehydration, and feed the child a fibre rich diet including fruits, vegetables and high fibre bread.

Polycythaemia is a commonly occurring neonatal disorder, which is characterized by a venous haematocrit ≥ 65%. It increases the blood viscosity and causes microcirculatory flow impairment in the end-organs. Causes of polycythaemia are multi-factorial, but the significant risk factors are maternal diabetes, SGA, LGA or post-term birth, infants with chromosomal abnormalities, and delayed clamping of the cord. Jaundice is not a recognized risk factor for polycythaemia.

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

Pierre Robin sequence is a condition present at birth, in which the infant has micrognathia, a tongue that is placed further back than normal (glossoptosis), and cleft palate. This combination of features can lead to difficulty breathing and problems with eating early in life. Pierre Robin sequence may occur isolated or be associated with a variety of other signs and symptoms (described as syndromic). The exact causes of Pierre Robin syndrome are unknown. The most common otic anomaly is otitis media, occurring 80% of the time, followed by auricular anomalies in 75% of cases. Hearing loss, mostly conductive, occurs in 60% of patients, while external auditory canal atresia occurs in only 5% of patients.

Based on the presentation, the patient is probably a case of Crohn’s disease. The first-line treatment of Crohn’s disease is exclusive enteral nutrition.Exclusive enteral nutrition (EEN)This involves drinking a protein-based formula exclusively for 6–8 weeks. It has been shown to have superior mucosal healing when compared with steroids. Furthermore, it is nutritionally advantageous when compared to steroids and does not have the side-effect profile of steroids.Other options:- Intravenous steroids: This is the first-line treatment for ulcerative colitis (UC) or Crohn’s disease if there is rectal disease (which is not the case here). Side-effects include adrenal suppression, behavioural effects, osteopenia and changes in adipose tissue distribution.- Oral steroids: This can be used if EEN is not possible. However, the side-effect profile is less favourable and is not as effective concerning mucosal healing.- Parental nutrition and surgery: They may be occasionally required in severe cases that have failed first-line therapy.

A monochorionic diamniotic (MCDA) twin pregnancy is a subtype of monozygotic twin pregnancy. An MCDA pregnancy results from a separation of a single zygote at ,4-8 days (blastocyst) following formation. These fetuses share a single chorionic sac but have two amniotic sacs and two yolk sacs. It accounts for the vast majority (70-75%) of monozygotic twin pregnancies although only ,30% of all twin pregnancies. The estimated incidence is at ,1:400 pregnanciesThe layman term is that the twins are identical – in reality, they are phenotypically similar, and of course of the same gender.

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.

A three-year child’s typical developmental milestones include walking up and down the stairs with alternating feet, jumping in a place with two feet together, and jumping forward for about 2 feet. The child can pedal a tricycle and can throw a ball over and underhand. An average child should start walking around 12-14 months of age and should be investigated as early as 18 months if they do not begin to walk. Skipping can be done by a child of 5 years of age. A child of 6-7 years of age can ride a bike with stabilizers and can balance on one foot for 20 seconds.

Congenital adrenal hyperplasia is a common cause of virilisation in females that can present as ambiguous genitalia at birth. Deficiency of the 21-alphahydroxylase enzyme is implicated in excess mineralocorticoid and androgens produced by the adrenal gland. Virilisation occurs when excess androgens are converted to testosterone in a genetically female foetus, causing the genitalia to resemble male genitalia. A deficiency of 5-alpha hydroxylase would rather decrease the production of testosterone and lead to the presentation of external female genitalia in a genetically male foetus. Autoantibodies against glutamic acid are seen in type 1 diabetes mellitus, while defects in the AIRE gene and the FOXP3 affect components of the immune system.

The most likely causative organism for the symptoms of this child is Giardia lamblia.Giardiasis results in fat malabsorption thus giving rise to greasy stools. It is resistant to chlorination, hence has a risk of transfer in swimming pools.World Health Organisation definitions- Diarrhoea: > 3 loose or watery stool per day- Acute diarrhoea < 14 days- Chronic diarrhoea > 14 daysConditions that usually present as acute diarrhoea:- Gastroenteritis: It may be accompanied by abdominal pain or nausea/vomiting.- Antibiotic therapy: Can occur following antibiotic therapy, especially common with broad spectrum antibiotics.Conditions that usually present as chronic diarrhoea:- Irritable bowel syndrome: It is a very common disease.The most consistent features are abdominal pain, bloating and change in bowel habit. Patients may be divided into those with diarrhoea predominant IBS and those with constipation-predominant IBS.Features such as lethargy, nausea, backache and bladder symptoms may also be present in these patients.- Ulcerative colitis: It presents as bloody diarrhoea. Patients can also present with crampy abdominal pain and weight loss. Faecal urgency and tenesmus may be seen.- Crohn’s disease: It is also associated with crampy abdominal pains and diarrhoea. Bloody diarrhoea less common than in ulcerative colitis. Other features include malabsorption, mouth ulcers perianal disease and intestinal obstruction – Colorectal cancer: It is very rare in children. The symptoms depend on the site of the lesion but include diarrhoea, rectal bleeding, anaemia and constitutional symptoms like weight loss and anorexia.- Coeliac disease: In children, it may present with failure to thrive, diarrhoea and abdominal distension.Other conditions associated with diarrhoea include thyrotoxicosis, laxative abuse, appendicitis, and radiation enteritis.

The most probable cause for the patient’s presenting symptoms is encephalitis secondary to measles infection.Encephalitis:Encephalitis occurs in 1 per 1000 measles cases. It usually presents within 1–14 days of the rash, usually day 5. It may present with fever, headache, vomiting, stiff neck, meningeal irritation, drowsiness, seizures, reduced consciousness| 15% will have neurological sequelae| 10% mortality.Other options:- Acute disseminated encephalomyelitis occurs in 1 per 1000 measles cases. It is thought to be a postinfectious immune response. Clinical manifestations include fever, headache, neck stiffness, seizures and mental status changes. It could fit this presentation although it tends to present in the recovery phase of measles infection, typically two weeks after the exanthem. In contrast, encephalitis tends to occur within a few days of the rash.- The history is not that of a typical febrile seizure as it lasted >15 minutes. He has also not recovered consciousness at 4 hours. The diazepam should have been eliminated within 4 hours and so should no longer be contributing to his reduced level of consciousness. Also, the history states the recent diagnosis of measles, and so complications of measles should be considered.- Intracranial bleed secondary to thrombocytopenia: Measles is not known to cause thrombocytopenia.- Subacute sclerosing panencephalitis (also known as Dawson’s encephalitis): This is an extremely rare complication of measles. It is a progressive degenerative disease of the central nervous system that occurs 7–10 years after a measles infection. The treatment for SSPE is mainly intraventricular interferon therapy through an Ommaya reservoir. The prognosis is poor, and it is usually fatal.

The paired sample t-test, sometimes called the dependent sample t-test, is a statistical procedure used to determine whether the mean difference between two sets of observations is zero. In a paired sample t-test, each subject or entity is measured twice, resulting in pairs of observations. Common applications of the paired sample t-test include case-control studies or repeated-measures designs.Statistical significance is determined by looking at the p-value. The p-value gives the probability of observing the test results under the null hypothesis. The lower the p-value, the lower the probability of obtaining a result like the one that was observed if the null hypothesis was true. Thus, a low p-value indicates decreased support for the null hypothesis. However, the possibility that the null hypothesis is true and that we simply obtained a very rare result can never be ruled out completely. The cut-off value for determining statistical significance is ultimately decided on by the researcher, but usually a value of .05 or less is chosen. This corresponds to a 5% (or less) chance of obtaining a result like the one that was observed if the null hypothesis was true.

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

HELLP syndrome is a complication of pregnancy characterized by haemolysis, elevated liver enzymes, and a low platelet count. It usually begins during the last three months of pregnancy or shortly after childbirth. HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: Haemolysis, Elevated Liver enzyme levels, and Low Platelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue| malaise| fluid retention and excess weight gain| headache| nausea and vomiting| pain in the upper right or middle of the abdomen| blurry vision| and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby. The main treatment is to deliver the baby as soon as possible, even if premature, if there is distress of the mother or the baby. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems.

Immunoglobulin G (IgG) glomerular immune deposits are seen more commonly in HSP compared to IgA nephropathy.The presentation of the child is highly suggestive of Henoch-Schönlein 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 – 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.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 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.

The sensory innervation of the external auditory meatus is provided by branches of several cranial nerves. The auriculotemporal branch of the mandibular nerve (CN V3) with the nerve to external acoustic meatus supplies the anterior and superior wall of the canal with sensory innervation. The auricular branch of the vagus nerve (CN X) supplies the posterior and inferior walls of the canal, and the facial nerve (CN VII) may also supply it due to its connection with the vagus nerve.