The clinical picture suggests a vitamin K deficiency haemorrhagic disease of the new-born and requires IV vitamin K and fresh frozen plasma. This usually presents with gastrointestinal bleeding, bleeding from the umbilical stump and bruising after 2-7 days.

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 presenting features and the surgical site provided in the clinical scenario are highly suggestive of ipsilateral hypoglossal nerve injury.

Note:
Three cranial nerves may be injured during submandibular gland excision.
– Marginal mandibular branch of the facial nerve
– Lingual nerve
– Hypoglossal nerve

Hypoglossal nerve damage may result in the paralysis of the ipsilateral aspect of the tongue. The nerve itself lies deep to the capsule surrounding the gland and should not be injured during an intracapsular dissection.
The lingual nerve is probably at higher risk of injury. However, the effects of lingual nerve injury are predominantly sensory rather than motor.
Thus, the most appropriate answer is the hypoglossal nerve.

The clinical scenario presented is highly suggestive of vitamin C deficiency (Scurvy).

Vitamin C is found in citrus fruits, tomatoes, potatoes, Brussel sprouts, cauliflower, broccoli, cabbage and spinach.
Deficiency leads to impaired collagen synthesis and disordered connective tissue.
Scurvy is associated with severe malnutrition as well as drug and alcohol abuse, and those living in poverty with limited access to fruits and vegetables.

Symptoms and signs include:
– Follicular hyperkeratosis and perifollicular haemorrhage
– Ecchymosis
– Gingivitis with bleeding and receding gums
– Sjogren’s syndrome
– Arthralgia
– Oedema
– Impaired wound healing
– Generalised symptoms such as weakness, malaise, anorexia and depression

The baby may have hydrocephalus and no surgery can be done until it is excluded.
Cranial sonography is an important part of neonatal care in general, and high-risk and unstable premature infants, in particular. It allows rapid evaluation of infants in the intensive care units without the need for sedation and with virtually no risk. Expectedly, sonography represents an ideal imaging modality in neonates due to its portability, lower cost, speed, and lack of ionizing radiations. Although there are numerous indications for cranial sonography, it appears to be most useful for detection and follow-up of intracranial haemorrhage, hydrocephalus, and periventricular leukomalacia (PVL).

Among the given options, the inability to grip a sheet of paper between his fingers when the hand is placed flat on the table is the feature of ulnar nerve injury.

Rationale:
The ulnar nerve (usually) supplies sensation to the skin of the fifth and the ulnar side of the fourth finger, front and back.
Following the injury of the nerve, the following functions are impaired:
– There is a sympathetic interruption, with the absence of sweating in the affected area.
– The thenar muscles are supplied by the median nerve and are therefore spared.
– The ulnar nerve also supplies the muscles of the hypothenar eminence.
– Although the ring and little fingers are held in the clawed position when the nerve is injured at the wrist, a high lesion paralyses the long flexors to these two fingers and results in the loss of this sign.

The test for paralysis of the palmar interossei, supplied by the ulnar nerve, is the inability to adduct the fingers and thus to be unable to grip a sheet of paper between them.

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

Eczema is an immune-mediated inflammatory condition of the skin characterized by intense pruritis and scaly rashes over the body. The impact of the disease can be measured by using certain scales, which include the Dermatitis Family Impact (DFI) Questionnaire, infant’s Dermatitis Quality of Life Index, Patient-oriented Eczema Measure, and Children’s Dermatology Life Quality Index among many others. Eczema severity questionnaire is not a recognized scale to determine eczema impact.

Among the options provided, a 1-year-old child will be able to understand object permanence e.g. understands that objects continue to exist even when they can’t be seen, e.g. looking for a fallen toy.

At the age of 1 year, children should have developed an accurate pincer grip and be able to see and co-ordinate and manipulate fairly small objects such as a raisin.

Gross motor development varies, but the average 1-year-old should be able to stand and cruise around furniture or walk with their hands held but not necessarily walk unaided.

Drinking from a cup will become established at around 15 months and scribbling at 18 months.

MMR vaccine is a live vaccine. It contains measles, mumps and rubella. These vaccines should be avoided during chemotherapy and for 6 months after.

Amoxicillin has high efficacy against haemophilus influenza and streptococcus pneumonia, the most common organisms of otitis media. It is an oral drug with high bioavailability.

From the given scenario, the extraocular muscle affected in the child is superior oblique muscle.

Point to remember:
All of the extraocular muscles are supplied by the oculomotor nerve (3rd cranial nerve), except superior oblique (trochlear nerve/4th cranial nerve) and lateral rectus (abducens nerve/6th cranial nerve).

The superior oblique muscle causes the eye to move downwards and medially. The unopposed inferior oblique, in this case, causes the eye to deviate upwards and medially.
Children tend to tilt their head (torticollis) to the side opposite to the affected eye with their chin down toward the shoulder, and their face turned away from the affected side to decrease the diplopia.

Zona fasciculata of the adrenal produces the maximum levels of cortisol in the body.

Functions of cortisol:
– Increases blood pressure: permits normal response to angiotensin II and catecholamines by up-regulating alpha-1 receptors on arterioles.
– Inhibits bone formation: decreases osteoblasts, type 1 collagen and absorption of calcium from the gut, and increases osteoclastic activity.
– Increases insulin resistance.
– Increases gluconeogenesis, lipolysis and proteolysis.
– Inhibits inflammatory and immune responses.
– Maintains function of skeletal and cardiac muscle.

An excess of corticosteroids in the body causes various symptoms that are a part of Cushing’s syndrome.

Tuner’s syndrome is not associated with arachnodactyly.

Arachnodactyly is seen in the following conditions:
– Marfan syndrome
– Homocystinuria
– Ehlers-Danlos syndrome
– Congenital contractural arachnodactyly

Other rare syndromes include:
– Loeys-Dietz syndrome
– Antley-Bixler syndrome
– Marden-Walker syndrome
– Lujan-Frinz syndrome
– Haim-Munk syndrome
– Marden-Walker syndrome
– Spondylocostal dysostosis

Although all of the options may lead to an acute red scrotum, torsion of the hydatid of Morgagni is the most common cause at this age (age 12-16 years).

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.

Bowel sounds in the chest and curved NG tube are suggestive of a diaphragm rupture, which has caused herniation of bowel into the thoracic cavity through the defect in the diaphragm.

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

Based on the history and clinical presentation, she most likely has iron toxicity.

Iron can cause scarring of the gut mucosa. This explains her pyloric stenosis. This typically occurs at the pylorus as this is where iron tablets tend to pool and cause maximal tissue damage.

Other options:
– Citalopram: Selective serotonin reuptake inhibitors (SSRIs) ingestion rarely causes serious consequences. It can rarely lead to serotonin syndrome (autonomic instability, mental status change, and increased neuromuscular tone).
– Ibuprofen: While it may cause gastritis, ibuprofen does not cause pyloric/intestinal stenosis.
– Thyroxine: An overdose of thyroxine will cause features of hyperthyroidism which are not present in the patient in question.
– Zinc: High doses of zinc can cause abdominal cramps, nausea, vomiting and diarrhoea.

Relative risk is the probability of an outcome occurring in an exposed group as compared to the probability of that outcome in an unexposed group. In the scenario given, 50% of the children exposed developed the disease while only 10% of the children who were unexposed developed the disease. The relative risk was therefore 50/10=5. There is no further information about whether the study was controlled, the confidence interval, or the type of study. It therefore cannot be confirmed whether the chemical is causative and if it should be avoided.

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

Excessive weight loss is generally indicative of suboptimal feeding, and infants with excessive weight loss are potentially dehydrated or at risk of dehydration.
Jaundice associated with suboptimal breastfeeding-this is classically associated with weight loss >10% and a vicious cycle of sleepiness that in turn leads to further poor feeding.
In the absence of clinical signs of dehydration, no evidence suggests that overhydration is helpful. If the infant is dehydrated, hydration should be given as clinically indicated. However, if the infant can tolerate oral feeding, oral hydration with a breast milk substitute is likely to be superior to intravenous hydration because it reduces enterohepatic circulation of bilirubin and helps wash bilirubin out of the bowel.

Lead Poisoning
Symptoms: Abdominal pain, bluish line on the gums (Burton line), wrist/foot drop, anaemia, nephropathy, encephalopathy, cognitive impairment
Diagnosis: Detectable in blood
Basophilic stippling of erythrocytes (disorder of heme synthesis) on smear
Treatment: Succimer, Dimercaprol, EDTA

Sepsis is a medical emergency that describes the body’s systemic immunological response to an infectious process that can lead to end-stage organ dysfunction and death. The fever, alongside the clinical presentation, make sepsis the likely diagnosis. A temperature >38 degrees in an infant <3months of age warrants investigation.

Hirschsprung’s disease is characterized by congenital absence of the autonomic plexus (Meissner’s and Auerbach’s plexus) in the intestinal wall. Usually limited to the distal colon, it can occasionally involve the entire colon or even the small bowel. There is abnormal or absent peristalsis in the affected segment, resulting in continuous spasm of smooth muscle and partial/complete obstruction. This causes accumulation of intestinal contents and dilatation of proximal segment. Skip lesions are highly uncommon. This disease is seen early in life with 15% patients presenting in first month, 60% by 1 year of age and 85% by the age of 4 years. Symptoms include severe and complete constipation, abdominal distension and vomiting. Patients with involvement of ultra-short segments might have mild constipation with intervening diarrhoea. In older children, symptoms include failure to thrive, anorexia, and lack of an urge to defecate. On examination, an empty rectum is revealed with stool palpable high up in the colon. If not diagnosed in time, it can lead to Hirschsprung’s enterocolitis (toxic megacolon), which can be fulminant and lead to death. Diagnosis involves a barium enema or a rectal suction biopsy. Barium enema shows a transition in diameter between the dilated, normal colon proximal to the narrowed, affected distal segment. It is to be noted that barium enema should be done without prior preparation, which can dilate the abnormal segment, leading to a false-negative result. A 24-hour post-evacuation film can be obtained in the neonatal period -if the colon is still filled with barium, there is a high likelihood of Hirschsprung’s disease. Full-thickness rectal biopsy is diagnostic by showing the absence of ganglion cells. Acetylcholinesterase staining can be done to highlight the enlarged nerve trunks. Abnormal innervation can also be demonstrated by rectal manometry.

McBurney’s point is found 2/3rds of the way along an imaginary line that runs from the umbilicus to the anterior superior iliac spine on the right-hand side.
On examination, features of generalised peritonitis can be observed if the appendix has perforated.
Retrocecal appendicitis may have relatively fewer signs.
Digital rectal examination may reveal boggy sensation if a pelvic abscess is present.
Diagnosis is typically based on raised inflammatory markers coupled with compatible history, and examination findings.
Ultrasound is useful in females where pelvic organ pathology can be a close differential diagnosis.
Although it is not always possible to visualise the appendix on ultrasound, the presence of free fluid (always pathological in males) should raise suspicion. Ultrasound examination can also show evidence of luminal obstruction and thickening of the appendix.

Management:
Definitive management of appendicitis and appendicular perforation is appendicectomy which can be performed via either an open or laparoscopic approach.
Simultaneous administration of metronidazole reduces wound infection rates. Patients with perforated appendicitis require copious abdominal lavage.
Patients without peritonitis who have an appendix mass should receive broad-spectrum antibiotics and consideration given to performing an interval appendicectomy.

To quantify differences between percentages you can use Fisher’s exact test.
Odds ratios, relative risks and number needed to treat are ways of quantifying differences between percentages in two groups, however are not in themselves significance tests.

The Chi-squared test would have been a useful test to compare the proportions in the scenario. However, due to the small sample size, Fisher’s exact test can be applied to analyse the significance of the difference. Adequate information is not given to determine what sample sizes were used to test the efficacy of the treatment, and to tell whether the treatment should be discontinued without further analysis on the data.

Stevens-Johnson syndrome (SJS) is a type of severe skin reaction. The most common cause is certain medications such as lamotrigine, carbamazepine, allopurinol, sulphonamide antibiotics, and nevirapine.

Tuberous sclerosis, an autosomal dominant disorder, may present with a variety of symptoms, including seizures, developmental delay, behavioural problems, skin abnormalities, and lung and kidney disease. Hamartomas are often associated.

The endocardial cushions in the heart are the mesenchymal tissue that make up the part of the atrioventricular valves, atrial septum and ventricular septum. An incomplete fusion of these mesenchymal cells can cause an atrioventricular septal defect. The terms endocardial cushion defect, atrioventricular septal defect and common atrioventricular canal defect can be used interchangeably with one another.

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.

Capillary haemangiomas (strawberry naevi) are very common benign tumours that may appear in infancy. This particular case requires a close follow-up to monitor the naevus’ size and make sure it doesn’t expand or gets bigger, affecting the baby’s visual field.

It is more common in preterm babies and girls are 3x more commonly affected than boys. It presents at birth in 30%, and is a focal and solitary in 80% of cases, most commonly found on the head and neck (60%), followed by the trunk (25%) and extremities (15%).

The CSF picture in bacterial meningitis has the following characteristics: several polymorphs, cells, protein that is maximum 5g/l, a few lymphocytes and glucose that accounts for the two thirds of the blood level.

According to the Rumack-Matthew Normogram, accurate levels of paracetamol can be measured only between 4-15 hours. The levels measured before 4 hours post-ingestion would highly underestimate the level of paracetamol ingested.
The patient in question presents 2 hours after ingestion. Hence the most appropriate time to measure the levels of acetaminophen would be a further 2 hours later.

Other options:
– Note that the treatment with NAC can be delayed until the 4-hour level is obtained and compared to the nomogram.
– Furthermore, haemodialysis is only indicated if she develops hepato-renal syndrome that is likely to occur 72-96 hours post-ingestion.
– Indications for acute liver transplantation include persistent acidosis, hepatorenal syndrome and worsening coagulopathy.

Linear regression is a basic and commonly used type of predictive analysis. The overall idea of regression is to examine two things: (1) do a set of predictor variables do a good job in predicting an outcome (dependent) variable? (2) Which variables, in particular, are significant predictors of the outcome variable, and in what way do they-indicated by the magnitude and sign of the beta estimates-impact the outcome variable.
These regression estimates are used to explain the relationship between one dependent variable and one or more independent variables.
Three major uses for regression analysis are (1) determining the strength of predictors, (2) forecasting an effect, and (3) trend forecasting

At the age of 18 months, Gertrude should be able to follow a one step command. At this age she would also be capable of putting words together in 1 or 2 word phrases, scribbling, throwing a ball, and building a tower of four cubes. At 2 she should be able to feed herself with a spoon or a fork, copy a vertical line, ride a tricycle, kick a ball and balance on one foot. Activities such as jumping will follow later on in her development at 3 years.

The most probable diagnosis for this patient would be congenital hypertrophic pyloric stenosis.

Congenital Hypertrophic Pyloric Stenosis (CHPS):
Pyloric stenosis should be ruled out in any baby who presents with a long-term history of vomiting and failure to thrive.
Infants typically present with projectile, non-bilious vomiting and are said to be hungry and wanting to feed despite poor weight gain. A blood gas would be helpful in this instance, although the diagnosis can be made more accurately by observing the stenosis during ultrasound.

Many infants have symptoms of gastroesophageal reflux disease, although only a small minority are unable to gain weight adequately. A UTI in infants can present with non-specific symptoms, but they might have a fever and can show poor feeding. Malrotation will present with bilious vomiting.

The definitive surgical management is the Ramsteadt’s pyloromyotomy.

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.

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

Usage of inhaled corticosteroids are less associated with systemic adverse effects. However they are associated with local complications including dental caries and most commonly dysphonia.

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.

Bulimia nervosa is an eating disorder that involves frequent episodes of binge eating followed by inappropriate purging behaviour. The underlying reason for this behaviour is distorted self-image. Bulimia leads to several medical issues, including various laboratory derangements. Among these deranged laboratory parameters are the hormone cholecystokinin, which is found to be decreased in women having bulimia. It is hypothesized that the bingeing episodes observed in patients with bulimia are due to lower levels of CCK since normal levels of CCK are involved in maintaining satiety and controlling the urge to binge eat.

The accuracy of the test for calcium levels in the blood is affected by the blood level of albumin.
If albumin levels are low, the calcium level can also appear low.
This is termed as pseudohypocalcemia.

Hypocalcaemia usually presents with muscle spams. These can include spasms of voluntary muscle but also smooth muscle such as in the airways (causing bronchospasm) and in the heart (causing angina).

The lingual nerve wraps around Wharton’s duct, and thus, is at risk of injury as the submandibular gland is mobilised.
The lingual nerve provides sensory supply to the anterior 2/3 of the tongue.
Note:
– Submandibular duct (Wharton’s duct): It opens lateral to the lingual frenulum on the anterior floor of the mouth. It is around 5 cm in length.
– Lingual nerve wraps around Wharton’s duct.
As the duct passes forwards, it crosses medial to the nerve, above it and then crosses back, lateral to it, to reach a position below the nerve.

The most probable diagnosis for this patient would be external angular dermoid.

External angular dermoids typically form where there are overlapping tissue planes such as the midline. They contain a caseous material. The cysts are essentially benign in nature and are excised for cosmetic purposes or when they encroach on vision.

Other options:
– Branchial remnant typically presents as a supraclavicular pit.
– Sebaceous cysts tend to be present on the scalp.
– There is nothing in the clinical scenario to suggest a vascular malformation such as pigment change or ‘bag of worms’.
– Lymphatic malformations are typically found in the neck or under the axilla.

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.

Many of the symptoms favour an epilepsy diagnosis: uncontrollable jerking of the limbs and a loss of consciousness. A 24-hour EEG is used to diagnose epilepsy.

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 bilious

Abdominal pain: Pain in intussusception is colicky, severe, and intermittent

Passage 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 intussusception

Lethargy: This can be the sole presenting symptom of intussusception, which makes the condition’s diagnosis challenging

Palpable abdominal mass

Diagnosis:
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.

Meconium ileus equivalent (MIE) can be defined as a clinical manifestation in cystic fibrosis (CF) patients caused by acute intestinal obstruction by putty-like faecal material in the cecum or terminal ileum. A broader definition includes a more chronic condition in CF patients with abdominal pain and a coecal mass which may eventually pass spontaneously. The condition occurs only in CF patients with exocrine pancreatic insufficiency (EPI). It has not been seen in other CF patients nor in non-CF patients with EPI. The frequency of these symptoms has been reported as 2.4%-25%.

The treatment should primarily be non-operative. Specific treatment with N-acetylcysteine, administrated orally and/or as an enema is recommended. Enemas with the water soluble contrast medium, meglucamine diatrizoate (Gastrografin), provide an alternative form for treatment and can also serve diagnostic purposes. It is important that the physician is familiar with this disease entity and the appropriate treatment with the above mentioned drugs. Non-operative treatment is often effective, and dangerous complications following surgery can thus be avoided.

Based on the clinical scenario, the most probable diagnosis for this patient is pancreatitis.
Although rare in childhood, the presence of abdominal pain radiating to the back with shock and tachycardia, and a raised amylase, should raise a suspicion of pancreatitis.
Possible causes include trauma, drugs, viral illness, mumps, hyperparathyroidism, hyperlipidaemia and cystic fibrosis.

Other options:
– Normal LFTs in this patient make hepatitis unlikely.
– Gastroenteritis with severe diarrhoea and vomiting may account for the shock and tachycardia, but guarding on abdominal examination and the raised amylase would not be explained by gastroenteritis.
– Pregnancy is an important diagnosis to consider in an adolescent with abdominal pain, but the raised amylase and other features point to a diagnosis of pancreatitis.

Internal abdominal bleeding is most probably the cause of the child’s shock, especially unresponsive to fluid boluses.

Aniridia is a genetic condition characterized by defects in the formation of a normal iris. The iris may be completely absent or only partially. One of the types of aniridia may be associated with other abnormalities like cataracts, glaucoma, corneal clouding, and nystagmus. The third type of aniridia is associated with intellectual disability, while a fourth type occurs in association with Wilm’s tumour. Aniridia may also be associated with amblyopia and buphthalmos, but macular hypoplasia is not a feature.

Answer: Beta 2 transferrin assay

Beta-2-transferrin is a protein found only in CSF and perilymph. Since 1979, beta-2-transferrin has been used extensively by otolaryngologists in the diagnosis of CSF rhinorrhoea and skull-base cerebrospinal fluid fistulas. With sensitivity of 94% – 100%, and specificity of 98% – 100%, this assay has become the gold standard in detection of CSF leakage. CSF rhinorrhoea is characterized by clear or xanthochromic watery rhinorrhoea that may not become apparent until nasal packing is removed.

Cystic fibrosis is a progressive, genetic disease. A defective gene causes a thick, sticky build-up of mucus in the lungs, pancreas, and other organs. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage, and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients. Since the digestive enzymes are not being made, the food is not completely digested making them bulky, smelly, and hard to flush away. Finger clubbing is a prominent feature of cystic fibrosis on most patients.

Ewing’s sarcoma is formed by small, round, blue cells, and is common in children. The usually develop in limbs, and clinical findings include pain and inflammation, with lytic destruction showing up on X-rays.

Erythema multiforme is a skin rash characterized by the eruption of macules, papules, and target-like lesions. 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, mostly appearing on the distal extremities along with palmoplantar involvement. The disease affects the mucous membrane and orbits as well. The most common infectious cause is herpes simplex virus 1 and 2 to a lesser extent. Inflammation of the adipocytes underlying the skin is referred to as erythema nodosum, and it is not a feature of EM.

An enlarged lymph node does not necessarily need treatment especially if it is caused by a virus. If it is bacterial, antibiotics should be prescribed. Amoxicillin is first line treatment in non-penicillin allergic patients and side effects include allergic reactions like skin rash and itching

Pale stools suggest obstructive jaundice. Initially, the symptoms of biliary atresia are indistinguishable from those of neonatal jaundice, a usually harmless condition commonly seen in infants. However, infants with biliary atresia develop progressive conjugated jaundice, pale white stools and dark urine.

The sign being elicited in this patient is Nikolsky’s sign. Based on the findings, the patient is suffering from toxic epidermal necrolysis.

Nikolskys sign: Rubbing the skin causes exfoliation of the outer layer and usually blistering within a few minutes.

Other options:
– Cullen’s sign: Periumbilical bruising due to intra-abdominal haemorrhage. If the discolouration is seen in the flanks, it is called Cullen’s sign. Underlying pathology includes ruptured ectopic pregnancy and haemorrhagic pancreatitis.
– Forscheimer’s sign: It is a fleeting exanthem that is seen as small, red spots (petechiae) on the soft palate. Associated with rubella and glandular fever.
Gorlin’s sign: It is the ability to touch the tip of the nose with the tongue. Increased incidence in children with connective tissue disorder, e.g. Ehler Danlos syndrome.
– Auspitzs sign: These are small bleeding points are left behind when psoriatic scales are lifted off. It is not a very sensitive or specific sign.

Other cutaneous signs include:
– Hair collar sign: It is a collar of hypertrichosis around an area of cranial dysraphism.
– Hertoghe’s sign (Queen Anne’s sign): It is the loss of lateral one-third of eye-brows. It is associated with numerous conditions, including lupus, HIV, and hypothyroidism.
– Dariers sign: It is the swelling, itching and erythema that occurs after stroking skin lesions of a patient with systemic mastocytosis or urticarial pigmentosa.
– Dermatographism: Rubbing the skin causes a raised, urticarial lesion.
– Koebners phenomenon: It is the appearance of new skin lesions in areas of trauma.
– Breakfast, lunch, and dinner sign: Linear pathway of a group of three to five papules caused by the common bed bug, Cimex lectularius.
– Buttonhole sign: In type 1 neurofibromatosis, neurofibromas can be invaginated with the finger back into the subcutis. The nodule will reappear after the release of pressure. The sign is also positive for dermatofibromas.
– Crowe’s sign: Axillary freckling seen in type I neurofibromatosis.

Androgen excess is one of the most common causes of advanced bone age. It usually occurs in precocious puberty or congenital adrenal hyperplasia.

Anorexia nervosa is associated with a decrease in muscle mass, which is one of the primary locations of creatinine metabolism. Due to this, plasma creatinine levels are found to be decreased in patients with anorexia. Other blood chemistry derangements in patients of anorexia nervosa include hypercortisolism, hypoglycaemia, low free T3 levels, and hypercholesterolemia.

Precocious puberty refers to the appearance of physical and hormonal signs of pubertal development at an earlier age than is considered normal.
Most patients, particularly girls suspected of having central precocious puberty, are otherwise healthy children whose pubertal maturation begins at the early end of the normal distribution curve
In a series of more than 200 patients evaluated at a single medical centre, central precocious puberty occurred 5 times more often in girls than boys.
GnRH-dependent precocious puberty is treated with GnRH agonists or Luteinizing Hormone Releasing Hormone (LHRH).
Follow up every 4-6 months to ensure that progression of puberty has been arrested
Favourable signs include normalization of accelerated growth, reduction (or at least no increase) in size of breasts, and suppression of gonadotropin levels after a challenge of GnRH
The ideal testing frequency has not been established. Monitor bone age yearly to confirm that the rapid advancement seen in the untreated state has slowed, typically to a half year of bone age per year or less

Cyanotic congenital heart disease (CCHD) is a common cause of neonatal morbidity and mortality. They can be classified as CCHD due to:
– Right-to-left shunt, associated with the decreased pulmonary flow, e.g., tetralogy of Fallot (TOF), pulmonary atresia, right-sided hypoplastic heart,
– Right-to-left shunt, associated with the decreased aortic flow, e.g., left-sided hypoplastic heart, interrupted arch, severe coarctation;
– Bidirectional shunt, e.g., TGA, DORV, TA, etc.
Eisenmenger syndrome is not a neonatal CCHD; rather it develops later in young adulthood secondary to various CHD.

The heart is the first organ to form and become functional, emphasizing the importance of transport of material to and from the developing infant. It originates about day 18 or 19 from the mesoderm and begins beating and pumping blood about day 21 or 22. It forms from the cardiogenic region near the head and is visible as a prominent heart bulge on the surface of the embryo. Originally, it consists of a pair of strands called cardiogenic cords that quickly form a hollow lumen and are referred to as endocardial tubes. These then fuse into a single heart tube and differentiate into the truncus arteriosus, bulbus cordis, primitive ventricle, primitive atrium, and sinus venosus, starting about day 22. The primitive heart begins to form an S shape within the pericardium between days 23 and 28. The internal septa begin to form about day 28, separating the heart into the atria and ventricles, although the foramen ovale persists until shortly after birth. Between weeks five and eight, the atrioventricular valves form. The semilunar valves form between weeks five and nine.

The most probable diagnosis for this patient is bilateral retractile testes. This a normal phenomenon in some pre-pubertal boys.

Rationale:
Testicular descent can continue until about 3-months of age. The pre-pubertal testis is small enough that with activation of the cremasteric reflex, they can enter the inguinal canal.
This in itself is a normal finding providing the testis can be brought into the scrotum without tension and does not require surgical correction. With time the testis will lie within the scrotum.

Orchidopexy for true undescended testis can be performed from 6-months of age. It is also warranted if the testes remain undescended or intra-abdominally leading to infertility.

Other options:
– An ascending testis is one, typically, following hernia or orchidopexy surgery that was in the testis but with time is within the inguinal canal and cannot be brought into the scrotum. Orchidopexy is required for this.
– No surgery is required as when the testis enlarges with puberty it will remain within the scrotum.
– The testes can be brought into the scrotum. Therefore they are not undescended.
– The testes are retractile not ascending; ascending testis cannot be brought into the scrotum and would require orchidopexy.

Treacher Collins syndrome is a congenital disorder transmitted in an autosomal dominant fashion. The basic abnormality is the TCOF 1 gene mutation, which leads to a multitude of clinical features, of which the most striking is the symmetrical craniofacial deformities. Important clinical features include conductive deafness, coloboma of lower eyelids, cleft palate, antimongoloid (short and downward slanting) palpebral fissures, deformed or absent ears, sleep apnoea, and airway issues. Hirsutism is not a recognized feature of this syndrome.

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.

Erythema multiforme lesions typically heal without scarring.

Other options:
– In erythema multiforme, lesions are typically symmetrical and acral, i.e. on the hands, feet and limbs.
– HSV is a common cause of erythema multiforme in children, accounting for at least 50% of cases; the lesions typically have damaged skin in the centre and are dusky and bullous (in contrast to urticaria, where the centre of the lesion is normal).

Primary amenorrhea is defined as the total absence of menarche in a girl of 14 years of age if the secondary sexual characteristics are also absent or in a girl of 16 years of age in whom normal secondary sexual characteristics are present. There are multiple causes of primary amenorrhea, but the most common are constitutional delay, imperforate hymen, congenital adrenal hyperplasia, hypothalamic failure, and testicular feminization. Cushing’s syndrome leads to secondary amenorrhea, which is defined as the absence of a menstrual period for 6 consecutive cycles in a girl who has achieved menarche.

The most commonly requested biochemistry tests for renal function are the urea and electrolytes. They supply important information when it comes to homeostasis and excretion. Glomerular filtration rate is also the essential standard marker of kidney health and is assessed by checking the creatinine levels. In this case as the child has lost fluids and electrolytes, this test will indicate the extent of the loss and allow for more appropriate replacement.

Tuberous sclerosis is an autosomal dominant neurocutaneous condition associated with increased psychiatric co-morbidity. It results from the mutation of TSC1 or TSC2 tumour suppressor genes. Multiple benign tumours of the brain and other vital organs are characteristic of this disease. Important findings include subependymal nodules, bone cysts, cardiac rhabdomyoma, and learning difficulties. Lisch nodules of the iris occur in neurofibromatosis.

The most appropriate step in this patient would be to admit the patient for enteral rehydration via a nasogastric tube.

Enteral rehydration:
Oral rehydration is the most preferred way of rehydrating children. If a child is not tolerating small-frequent-feeds, then nasogastric rehydration is an underused next best step.
The fluid can be run through a continuous pump so that it is better tolerated.

Note:
Intravenous fluids are effective but can have profound effects on the serum electrolyte balance if not monitored closely.
Most children will tolerate fluids in an emergency department, but failure to take fluids orally is not an indication for intravenous therapy.

The sensitivity of a screening test can be described in a variety of ways, typically such as sensitivity being the ability of a screening test to detect a true positive, being based on the true positive rate, reflecting a test’s ability to correctly identify all people who have a condition, or, if 100%, identifying all people with a condition of interest by those people testing positive on the test.

The specificity of a test is defined in a variety of ways, typically such as specificity is the ability of a screening test to detect a true negative, being based on the true negative rate, correctly identifying people who do not have a condition, or, if 100%, identifying all patients who do not have the condition of interest by those people testing negative on the test.

Henoch-Schonlein purpura (HSP), also known as IgA vasculitis, is a disease of the skin, mucous membranes, and sometimes other organs that most commonly affects children. In the skin, the disease causes palpable purpura (small, raised areas of bleeding underneath the skin), often with joint pain and abdominal pain. It is an acute immunoglobulin A (IgA)-mediated disorder. The tetrad of purpura, arthritis, kidney inflammation, and abdominal pain is often observed.

Epilepsy is a common paediatric neurologic disorder characterized by seizures of varying frequency and intensity. There are many childhood or infantile epilepsy syndromes that can be categorized as benign epilepsy syndromes as the child suffering from these usually outgrows them after reaching a certain age, and they do not lead to significant cognitive or physical impairment. Some of these may not need any treatment. Such benign epilepsy syndromes include benign rolandic epilepsy, Panayiotopoulos syndrome, Gastaut type-idiopathic childhood occipital epilepsy, and idiopathic photosensitive occipital lobe epilepsy.
West syndrome, also called infantile spasms, is a serious infantile epileptic encephalopathy, characterized by multiple clusters of myoclonic spasms, and regression of the previous normally attained milestones. It is associated with severe cognitive and physical impairment, often leading to life long disability.

Retinopathy screening need not be done on an annual basis for a 9-year-old child. Screening for diabetic retinopathy should begin at the age of 12.

Diabetes mellitus is an increasing problem in both developing and developed countries alike. Some of the risk factors include:
Obesity
Family history
Female sex
Asian and African races
Presence of acanthosis nigricans is seen with type 2 but not type 1 diabetes

The diagnosis is mostly incidental or subacute.
The treatment aims are good blood sugar control, maintenance of normal BMI, and reduction of complications. The treatment modality also includes lifestyle modifications and cessation of smoking. Even after all this, diabetic ketoacidosis can still occur.

Management of diabetes mellitus – NICE guidelines (Updated, 2015):
– Standard release metformin should be offered from the moment of diagnosis.
– HBA1c should be measured every three months. The target HBA1c level of 48 mmol/mol (6.5%) or lower is ideal for minimising the risk of long term complications.
– Children should undergo an eye examination by an optician every two years.
– Annual immunisation against influenza and pneumococcal infections are essential.
– There is an increased risk of psychological and psychosocial difficulties if the child with type 1 diabetes is on insulin or oral hypoglycaemic medications. These include anxiety disorder, depression, behavioural and conduct disorders and family conflict.
– Annual monitoring to be done for:
Hypertension starting at diagnosis.
Dyslipidaemia starting at diagnosis.
Screening for microalbuminuria starting at diagnosis.
Diabetic retinopathy from 12 years of age.

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

Based on the presented clinical scenario, the most probable diagnosis for the patient would be testicular torsion.

Rationale:
The gubernaculum is the structure responsible for aiding the descent of the testicles from the abdomen into the scrotum. The processus vaginalis precedes the descent of the testes and then undergoes closure.
Abnormalities such as the persistence of a patent processus vaginalis, known as bell clapper deformity, predispose to testicular torsion.

Other options:
– Varicocele: Nutcracker syndrome occurs where the left renal vein becomes compressed in between the superior mesenteric artery and the aorta. Since the left gonadal vein drains into the left renal vein, this results in a varicocele.
– Epididymitis and mumps orchitis are differentials for acute testicular pain but are not due to a defect in the processus vaginalis.
– An incarcerated inguinal hernia presents mainly with signs of bowel obstruction which are not mentioned in the clinical scenario.

The descent of testes:
– Until the end of foetal life, the testicles are located within the abdominal cavity.
– They are initially located on the posterior abdominal wall on a level with the upper lumbar vertebrae (L2).
– Attached to the inferior aspect of the testis is the gubernaculum testis which extends caudally to the inguinal region, through the canal and down to the superficial skin.
– It is interesting to note that both the testis and the gubernaculum are extra-peritoneal.
– As the foetus grows, the gubernaculum becomes progressively shorter. It carries the peritoneum of the anterior abdominal wall (the processus vaginalis). As the processus vaginalis descends the testis is guided by the gubernaculum down the posterior abdominal wall and the back of the processus vaginalis into the scrotum.
– By the third month of foetal life the testes are located in the iliac fossae, by the seventh they lie at the level of the deep inguinal ring.

Usually, the processus vaginalis closes after birth but may persist predisposing to indirect hernias.
On the other hand, a partial closure may result in the development of cysts on the cord.

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.

Tooth extraction or any surgical procedure may introduce bacteria into the blood stream. The most commonly involved organisms include Staphylococcus aureus and Streptococcus viridans. Once in the blood, these organisms have a very high tendency of attaching to the walls of the heart and causing inflammation known as endocarditis.

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

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 disease

The 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

Metformin works by improving the sensitivity of peripheral tissues to insulin, which results in a reduction of circulating insulin levels. Metformin inhibits hepatic gluconeogenesis and it also increases the glucose uptake by peripheral tissues and reduces fatty acid oxidation. Metformin has a positive effect on the endothelium and adipose tissue independent of its action on insulin and glucose levels.
Metformin was the first insulin sensitising drug (ISD) to be used in PCOS to investigate the role of insulin resistance in the pathogenesis of the syndrome
Several effects have been reported as related to metformin in PCOS patients including restoring ovulation, reducing weight, reducing circulating androgen levels, reducing the risk of miscarriage and reducing the risk of gestational diabetes mellitus (GDM). Other studies have reported that the addition of metformin to the ovarian stimulation regime in invitro fertilization (IVF) improves the pregnancy outcome. These effects will be addressed individually.

The child has symptoms and signs suggestive of an inflammatory arthropathy. This is why he should firstly be referred for an eye exam to exclude iritis or treat it if present.

– Amblyopia is not directly associated with inflammatory arthropathies unless they had recurrent ocular involvement.

– Blepharitis is not an associated finding in a child with inflammatory arthropathy.

– Episcleritis may occur, and is often non-sight threatening, and therefore would not be the main cause for concern.

– Optic neuropathy in juvenile inflammatory arthritis has been reported, although it is rare.

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.

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

Certain lesions present on x-ray are suggestive of child abuse including rib, humerus and skull fractures. It is the doctors responsibility to follow up on these cases to determine whether domestic abuse has occurred.

Unless given IV, a drug must cross several semipermeable cell membranes before it reaches the systemic circulation. Drugs may cross cell membranes by diffusion, amongst other mechanisms. The rate of diffusion of a substance is proportional to the difference in the concentration of the diffusing substance between the two sides of the membrane, the temperature of the solution, the permeability of the membrane and, in the case of ions, the electrical potential difference between the two sides of the membrane.

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

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.

Based on the clinical scenario, the most probable diagnosis is Wilson’s disease. Elevated serum ceruloplasmin levels can confirm the diagnosis.

Serum ceruloplasmin
Wilson’s disease causes reduced binding of copper to ceruloplasmin, which is the body’s primary copper carrying protein. As a result, copper cannot be excreted into the bile. Copper, therefore, builds up in the liver, causing toxicity and is secreted into the bloodstream unbound to ceruloplasmin. This free copper is deposited around the body, especially the brain, eyes and kidneys. The genetic defect means that ceruloplasmin is not released into the bloodstream; therefore, ceruloplasmin is low in Wilson’s disease.

Other options:
– Microscopic evaluation of the hair is performed in Menke’s disease, which is a disease of copper absorption leading to copper deficiency. This causes kinky hair, failure to thrive and neurological symptoms (such as hypotonia).
– Magnetic resonance imaging (MRI) scan of the brain: An MRI brain may show features of Wilson’s disease (especially in the basal ganglia), but it is not diagnostic.
– Serum ferritin: Serum ferritin becomes high in haemochromatosis. This classically causes cirrhosis, bronzing of the skin, cardiomyopathy and diabetes.
– Ultrasound scan of the abdomen: While it is useful in any case of hepatomegaly; it is not going to provide the diagnosis in this case.

The combination of cholestasis, congenital heart disease (mainly affecting the pulmonary vasculature) and anterior-segment abnormalities (primarily posterior embryotoxon) suggests a diagnosis of Alagille syndrome.

Clinical features:
The facial features are characteristic and include a prominent forehead, deep-set eyes and a pointed chin.
The most common skeletal manifestation is butterfly vertebrae, a clefting abnormality of the vertebrae most often seen in the thoracic spine and described in up to 87% of cases.
Radio-ulnar synostosis and short phalanges have also been described in Alagille but less frequently.

Note: Pectus excavatum is a feature of Noonan syndrome, one of the differential diagnoses of pulmonary valve disease.

The deep peroneal nerve lies in the anterior muscular compartment of the lower leg and can be compromised by compartment syndrome affecting this area. It provides cutaneous sensation to the first web space. The superficial peroneal nerve provides more lateral cutaneous innervation.

Origin: It originates from the common peroneal nerve, at the lateral aspect of the fibula, deep to peroneus longus. Root values of common peroneal nerve: L4, L5, S1, and S2.
Course and relation: It pierces the anterior intermuscular septum to enter the anterior compartment of the lower leg. Following which, it passes anteriorly down to the ankle joint, midway between the two malleoli. It terminates in the dorsum of the foot.

Throughout the course it innervates:
– Tibialis anterior
– Extensor hallucis longus
– Extensor digitorum longus
– Peroneus tertius
– Extensor digitorum brevis
At its termination, it innervates the skin in the web space between the first and second toes.

Actions performed by the muscles supplied by the nerve:
– Dorsiflexion of ankle joint
– Extension of all toes
– Inversion of the foot

The average age for girls to begin puberty is 11.
The first sign of puberty in girls is usually that their breasts begin to develop.
It’s normal for breast buds to sometimes be very tender or for one breast to start to develop several months before the other one.
Pubic hair also starts to grow, and some girls may notice more hair on their legs and arms.
After a year or so of puberty beginning, and for the next couple of years:
girls’ breasts continue to grow and become fuller.
Around 2 years after beginning puberty, girls usually have their first period,
pubic hair becomes coarser and curlier
underarm hair begins to grow.
From the time their periods start, girls grow 5 to 7.5cm (2 to 3 inches) annually over the next year or two, then reach their adult height.
After about 4 years of puberty in girls:
breasts become adult-like
pubic hair has spread to the inner thigh
genitals should now be fully developed
girls stop growing taller.

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-Schonlein 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.

Patients with breast cancer develop clinical symptoms rather late at advanced tumour stages. Typical signs may include:
Changes in breast size and/or shape; asymmetric breasts
Palpable mass: typically a single, nontender, firm mass with poorly defined margins, most commonly in the upper outer quadrant
Skin changes: Retractions or dimpling (due to tightening of the Cooper ligaments), Peau d’orange: skin resembling an orange peel (due to obstruction of the lymphatic channels): Redness, oedema, and pitting of the hair follicles
Nipple changes: inversion, blood-tinged discharge
Axillary lymphadenopathy: firm, enlarged lymph nodes (> 1 cm in size), that are fixed to the skin or surrounding tissue
In advanced stages: ulcerations

Polyuria is defined as a total increase in the urine output or > 2L/m2 of daily urine produced in children. Polyuria can be a symptom of a vast number of medical conditions. The commonest and most important disease having polyuria as the main symptom is diabetes mellitus. Nephrogenic and central diabetes insipidus also results in polyuria along with polydipsia. Other conditions that lead to an increase in the urine output are renal failure, acute tubular necrosis, and exposure to high altitude. Hyperkalaemia does not result in polyuria; rather hypokalaemia can be an associated finding with polyuria in the case of diuretic abuse.

The sensitivity of a screening test can be described in a variety of ways, typically such as sensitivity being the ability of a screening test to detect a true positive, being based on the true positive rate, reflecting a test’s ability to correctly identify all people who have a condition, or, if 100%, identifying all people with a condition of interest by those people testing positive on the test.

The specificity of a test is defined in a variety of ways, typically such as specificity is the ability of a screening test to detect a true negative, being based on the true negative rate, correctly identifying people who do not have a condition, or, if 100%, identifying all patients who do not have the condition of interest by those people testing negative on the test.

Sensitivity=[a/(a+c)]x100
Specificity=[d/(b+d)]x100
a: True positive
b: False Positive
c: False negative
d: True negative

History is suggestive of a possible hearing impairment. As the baby is vocalizing and has normal motor development, an isolated hearing problem is possible. A hearing test will confirm the diagnosis.

Age (years) Respiratory rate (per minute) Heart rate (per minute) Systolic blood pressure
<1 30-40 110-160 70-90
1-2 25-35 100-150 80-95
2-5 25-30 95-140 80-100
5-12 20-25 80-120 90-110
>12 15-20 60-100 100-120

Adapted from Advanced Paediatric Life Support Manual

Proteinuria refers to an increased amount of protein excretion in urine, which should be greater than 100mg/m2 per day on a single spot urine collection. The limit is even more relaxed for infants and neonates. Proteinuria is a prominent manifestation of cystinosis, acute tubular necrosis, Fanconi syndrome, and celiac disease. Landau-Kleffner syndrome is a rare childhood convulsive disorder, associated with acquired aphasia and auditory verbal agnosia.

H. pylori release the enzyme urease that has the ability to split urea releasing nitrogen. This process increases the pH in the gastric antrum making the gastric pH less acidic.

Helicobacter pylori:
It is a spiral, microaerophilic, gram-negative bacterium. It is one of the most common causes of antral gastritis in children. Ulcers are less common in children compared with adults; however, when they occur, they are more common in the duodenum.

The presence of H.pylori can be confirmed by:
– Stool antigen test (preferred)
– Serology
– Endoscopy with biopsy and culture
– Rapid urease tests

H.pylori gastritis may be associated with:
– Iron deficiency anaemia
– Gastric malignancy

Management:
The treatment is with triple therapy- two antibiotics, and an antacid.
Treatment failure is often attributed to a possible worldwide increase in macrolide resistance. Interestingly, children have higher antibiotic resistance compared with adults.

Note:
Zollinger-Ellison syndrome (ZES) causes gastrin-secreting tumours and can present as a part of multiple endocrine neoplasia type 1 (MEN1)- an autosomal dominant disorder.

Alopecia is a scalp condition characterized by either overall baldness or patches of hair loss over the head. It can be broadly classified as scarring alopecia and non-scarring alopecia. Non-scarring is the most common type and is seen in various conditions like nutritional deficiencies, alopecia areata, hypothyroidism, tinea capitis, and SLE. Scarring alopecia is commonly seen in cases of discoid lupus erythematosus, which is a common cause of widespread inflammatory and scarring lesions all over the body and scalp.

Psoriasis is a chronic inflammatory skin disease that is mainly due to the interplay between keratinocytes, dermal vascular cells, and antigen-presenting cells. There are five main types of psoriasis based on the type and severity of the lesions it produces. A useful tool to determine the extent and severity of psoriasis is the Psoriasis Area and Severity Index (PASI) score, which takes into account the percentage of a specific area affected by psoriasis in combination with severity, which in turn is assessed by the presence of desquamation, induration, and erythema.

Thyroglossal cyst is the most common congenital thyroid anomaly which is clinically significant and affects women more than men. It is a vestigial remnant of developing thyroid. Although the thyroglossal cyst can develop anywhere along the thyroglossal duct, the most common site is in the midline between the isthmus of thyroid and hyoid bone, or just above the hyoid. Thyroglossal cysts are also associated with ectopic thyroid tissue. Clinically, the cyst moves upward with protrusion of the tongue. Rarely, the persistent duct can become malignant (thyroglossal duct carcinoma) where the cancerous cells arise in the ectopic thyroid tissue that are deposited along the duct. Exposure to radiation is a predisposing factor.

Low oxygen delivery in hypotension, hypoxia, oedema, intracranial hypertension or changes in cerebral blood flow should all be prevented to avoid secondary brain injury. There is no evidence to suggest that hypothermia prevents secondary brain injuries.

Turner syndrome (TS) is one of the most common genetic disorders; occurs with an incidence of I: 2,500 female live births. It results from complete or partial chromosome X monosomy. TS is associated with abnormalities of the X chromosome and characteristic clinical features of short stature, gonadal dysgenesis, sexual developmental deficiencies, cardiac and/or renal defects, webbed neck, low-set ears, skeletal deformities including cubitus valgus, a propensity to ear infections and hearing deficits.

Unprotected anal or vaginal sexual intercourse with an infected individual is by far the most common (95%) route by which HIV is transmitted.

Other options:
– Blood transfusion is an extremely rare cause of HIV transmission in the UK.
– While HIV can be transmitted from mother to baby either during birth or via breastfeeding, the transmission rate is only 5 -20%.
– Sharing contaminated needles does put individuals at risk of getting HIV, although public health measures are in place to reduce this risk.
– Although HIV can be transmitted via this route, it is around ten times less likely to result in transmission than unprotected anal or vaginal intercourse with an infected individual.

In this case scenario, the pH is too low to be fully explained by a respiratory acidosis.
Usually, if there is a metabolic acidosis, the respiratory system will try to compensate by hyperventilation and reduced pCO2. In this case, however, the pCO2 is raised suggesting the presence of a respiratory component.
Therefore, this boy has mixed metabolic and respiratory acidosis, most probably due to severe exacerbation of this asthma, which led to diabetic ketoacidosis.

Note:
Normal values:
pH: 7.35 – 7.45
pO2: 10 – 14 kPa
pCO2: 4.5 – 6 kPa
Base excess (BE): -2 – 2 mmol/L
HCO3: 22 – 26 mmol/L

A Mongolian spot can be present in new born babies which usually appears over the back and fades with time. There is nothing to worry about.

Stridor is a sign of upper airway obstruction. One of the most common causes of stridor in children is laryngomalacia. In the absence of laryngomalacia, stridor presenting with respiratory distress, few chest signs and no preceding coryza symptoms or fever all point to the inhalation of a foreign object. This is common in children, with a peak incidence between 1 and 2 years of age. This child did not present with a high temperature, usually indicative of epiglottitis . The incidence of epiglottis has decreased due to the H. Influenza type b vaccine. Additionally viral croup and bronchiolitis present with upper respiratory tract infection. Asthma rarely presents with stridor but is rather associated with a wheeze.

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 vasovagal episode or vasovagal syncope is the most common form of reflex syncope. Reflex syncope is a general term used to describe types of syncope resulting from a failure in autoregulation of blood pressure, and ultimately, in cerebral perfusion pressure resulting in transient loss of consciousness. The mechanisms responsible for this are complex and involve both depression of cardiac output as well as a decrease in vascular tone. Other types of reflex syncope include carotid sinus syncope and situational syncope, for instance, cough or micturition syncope. Vasovagal syncope may be triggered by pain or emotional upset, although frequently a specific trigger cannot be identified.

In pyloric stenosis a new-born baby presents with a history of vomiting, constipation and deranged electrolytes. Excessive vomiting leads to hypokalaemia. Difficulty in food passing from the stomach to the small intestine causes constipation. Hypokalaemia also causes constipation. None of the other disorders mentioned present with the hypokalaemia, vomiting and constipation triad in a new-born.

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.

Minimal change nephrotic syndrome leads to the loss of anti-thrombin III which protects the body from forming venous emboli. It may be triggered by virus, immunisations, medication, non-Hodgkin lymphoma, or leukaemia
Characterised by oedema, proteinuria, hypoalbuminemia, and hypercholesterolemia.

The Chi-squared test evaluates if two variables are related. The other statistical tests mentioned do not perform this function.