The most probable cause for the patient’s symptoms is intussusception.Intussusception is a condition in which part of the intestine folds into the section next to it. It most commonly involves the small bowel and rarely the large bowel. Intussusception doesn’t usually require surgical correction. 80% of cases can be both confirmed and reduced using barium, water-soluble or air-contrast enema. However, up to 10% of cases can experience recurrence within 24 hours after reduction, warranting close monitoring during this period.Other options:- Enteric duplication: a duplication cyst could give all these features, although it may contain sufficient gastric epithelium to produce a positive Meckel’s scan. However, this is comparatively rare. – Meckel’s diverticulum: Scintigraphy has poor sensitivity making the possibility of a bleed from a Meckel’s diverticulum a genuine differential for this patient. However, considering the presence of features of bowel obstruction in the patient, a Meckel’s diverticulum bleeding and obstructing at the same time would be a rare phenomenon. – Midgut volvulus: It is also a plausible differential in this patient. However, for the given age group, a midgut volvulus is relatively uncommon compared to intussusception. – Acute appendicitis: While it is true that appendicitis can present acutely with a palpable mass and bowel obstruction, it rarely presents with rectal bleeding.

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

Before the test, the patient was likely to have the disease being tested for. Their pre test odds were 2, making them twice as likely to have the disease. After testing positive, their pretest odds of 2 and the likelihood ratio of 3 are multiplied to produce 6 as the post test odds. The patient is now 6 times as likely to have the disease after the test. Likelihood ratios above 10 or below 0.1 are strong evidence to rule in and rule out a diagnosis. The negative likelihood ratio is not known here, but does not subtract from the interpretation of the outcomes in this patient.

6 month old milestones:Social and Emotional:Knows familiar faces and begins to know if someone is a stranger Likes to play with others, especially parents Responds to other people’s emotions and often seems happy Likes to look at self in a mirror Language/Communication:Responds to sounds by making sounds Strings vowels together when babbling (“ah,” “eh,” “oh”) and likes taking turns with parent while making sounds Responds to own name Makes sounds to show joy and displeasure Begins to say consonant sounds (jabbering with “m,” “b”) Cognitive (learning, thinking, problem-solving):Looks around at things nearby Brings things to mouth Shows curiosity about things and tries to get things that are out of reach Begins to pass things from one hand to the other Movement/Physical Development:Rolls over in both directions (front to back, back to front) Begins to sit without support When standing, supports weight on legs and might bounce Rocks back and forth, sometimes crawling backwards before moving forward

Perforated appendices are common in children as it is more difficult to surgically assess an unwell child due to poor localisation of abdominal pain, and their inability to express discomfort. They are therefore prone to a greater risk of post operative complications including would infections, intra abdominal fluid collections, and chest infections. In the above scenario the spiking temperature points to an abscess, which characteristically presents with a swinging temperature. The fever is unlikely due to bacterial resistance as blood tests performed post surgery would have indicated any resistance, and a UTI is also unlikely since the child is already on antibiotics. As his chest is clinically clear, a severe chest infection may be ruled out, leaving intra-abdominal collection as the most likely explanation.

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.

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.

Leiner disease belongs to a heterogeneous group of disorders associated with permanent or temporary complement C5 plasma deficiency. It is a rare disease that follows an autosomal recessive pattern of transmission. It is prevalent in female, breast-fed babies. The hallmark of this syndrome is severe diarrhoea, severe generalized seborrheic dermatitis, central nervous system defects, marked wasting, recurrent local and systemic infections, and failure to thrive.

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

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

The child most likely has nephritic syndrome which is characterised by a reduced renal function, proteinuria of non-nephrotic range, haematuria, erythrocyte casts, and oedema. Polyarteritis nodosa usually occurs in middle-aged men but can also be seen in young children. It is accompanied by severe systemic manifestations such as fever, malaise, weight loss and myalgia.Renal cell carcinoma usually presents around 55 years with the classic triad of haematuria, loin pain and a unilateral mass in the flank.Polycystic kidney disease usually presents in adult life with acute loin pain and palpation of masses in the flanks.

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

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.

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

Answer: Spontaneous bacterial peritonitisThe presence of periorbital and facial oedema with normal blood pressure in this toddler indicates that he has nephrotic syndrome. Nephrotic syndrome can be associated with a series of complications that can affect an individual’s health and quality of life:Spontaneous bacterial peritonitis can develop where there is ascites present. This is a frequent development in children but very rarely found in adults.Spontaneous bacterial peritonitis (SBP) is the development of a bacterial infection in the peritoneum, despite the absence of an obvious source for the infection. It is specifically an infection of the ascitic fluid – an increased volume of peritoneal fluid. Ascites is most commonly a complication of cirrhosis of the liver. It can also occur in patients with nephrotic syndrome. SBP has a high mortality rate.The diagnosis of SBP requires paracentesis, a sampling of the peritoneal fluid taken from the peritoneal cavity. If the fluid contains large numbers of white blood cells known as neutrophils (>250 cells/µL), infection is confirmed and antibiotics will be given, without waiting for culture results. In addition to antibiotics, infusions of albumin are usually administered.Signs and symptoms of spontaneous bacterial peritonitis (SBP) include fevers, chills, nausea, vomiting, abdominal pain and tenderness, general malaise, altered mental status, and worsening ascites. Thirteen percent of patients have no signs or symptoms. In cases of acute or chronic liver failure SBP is one of the main triggers for hepatic encephalopathy, and where there is no other clear causal indication for this, SBP may be suspected.These symptoms can also be the same for a spontaneous fungal peritonitis (SFP) and therefore make a differentiation difficult. Delay of diagnosis can delay antifungal treatment and lead to a higher mortality rate.

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

The most probable cause for the patient’s presentation would be intra-abdominal adhesions, and the most appropriate management for this patient would be nasogastric decompression and intravenous fluids.Malrotation typically presents in the first month of life with bilious vomiting. There is a lifetime risk of intra-abdominal adhesions. This presents with bilious vomiting and dilated bowel loops on plain abdominal film. 2/3 of adhesional obstructions resolve by conservative management with nasogastric decompression and intravenous fluids. If this fails to resolve after 24-48 hours or if there are signs of peritonism, a laparotomy is indicated.Other options:- Recurrent volvulus, urgent laparotomy required: The child is now 8-years-old and recurrent volvulus is unlikely as bowel should be fixed by intra-abdominal adhesions.- Intra-abdominal adhesions, surgery for division of intra-abdominal adhesions: Although surgery may be required, the majority of adhesional obstructive cases respond to conservative management.- Gastroenteritis with incompetent pylorus, intravenous fluids: While it is true that patients with malrotation can have bilious vomiting in gastroenteritis, the abdominal X-ray is suggestive of obstruction.- Likely sepsis with bilious vomiting, intravenous fluids and antibiotics: While a septic ileus can give bilious vomiting, this patient has no inflammatory markers suggestive of sepsis.

Hypertrophic villi is a response to chronic irritation by allergic reactions

Due to its cholestatic properties, Flucloxacillin can block bile flow through the liver, leading to the accumulation of bilirubin in the blood, giving rise to jaundice. Dark urine is the result of excessive bilirubin in the blood being filtered by the kidney. As the bile doesn’t move into the small intestine, stools are pale.

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.

This presentation could be due to either a meningitis or encephalitis, which are clinically not distinguishable from the given history. Encephalitis is mostly viral and in UK herpes simplex virus is the main cause. Advanced neuro imaging and EEG will help to differentiate them however from the given answers CSF analysis is the most appropriate, provided that intracranial pressure is not raised. CSF analysis will help to differentiate a pyogenic meningitis from other forms of meningitis and encephalitis.

The Five P’s: pain, pulselessness, paraesthesia, paralysis, and pallor, are the most common symptoms of compartment syndrome. However, late signs of the condition include the absence of distal pulses.

Based on the presenting features, the patient has developed a septal haematoma after the trauma. Septal hematoma:In this condition, blood collects between the septal cartilage and the perichondrium. The patient classically presents with symptoms of nasal difficulty and pain following a nasal injury. Care should be taken not to misdiagnose a septal haematoma as a blood clot on the septum. In the case of a septal haematoma the swelling will typically be visible on both sides of the septum although this is not always the case. Referral to an ENT surgeon is indicated because, if untreated, there is a high risk of cartilage breakdown and complications related to infection.Other options:- The nosebleed has now stopped therefore compression is no longer required. The boy has developed a septal haematoma after traumatic injury. – CT head is not indicated in this patient as the diagnosis is clearly a septal hematoma.- Management of a septal hematoma consists of drainage and antibiotics. There is no role for intranasal corticosteroids.- If untreated, there is a high risk of cartilage breakdown and complications related to infection. Thus, referral to the ENT is essential| reassurance and discharge can lead to complications.

Klinefelter syndrome is a chromosomal disease that does not lead to congenital cataracts. A congenital cataract is the clouding of the cornea that is present from birth. Causes can be categorized as genetic, infectious, and metabolic. The most common infectious cause is congenital rubella syndrome. Galactosemia is a metabolic cause of congenital cataracts. Down’s syndrome represents a genetic cause of congenital cataract.

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.

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.

Lypohypertrophy is the most common skin-related complication of insulin injection.

Answer: MittelschmerzMittelschmerz is midcycle abdominal pain due to leakage of prostaglandin-containing follicular fluid at the time of ovulation. It is self-limited, and a theoretical concern is treatment of pain with prostaglandin synthetase inhibitors, which could prevent ovulation. The pain of mittelschmerz usually occurs in the lower abdomen and pelvis, either in the middle or to one side. The pain can range from a mild twinge to severe discomfort and usually lasts from minutes to hours. In some cases, a small amount of vaginal bleeding or discharge might occur. Some women have nausea, especially if the pain is very strong.Diagnosis of pelvic pain in women can be challenging because many symptoms and signs are insensitive and nonspecific. As the first priority, urgent life-threatening conditions (e.g., ectopic pregnancy, appendicitis, ruptured ovarian cyst) and fertility-threatening conditions (e.g., pelvic inflammatory disease, ovarian torsion) must be considered. Many women never have pain at ovulation. Some women, however, have mid-cycle pain every month, and can tell by the pain that they are ovulating.As an egg develops in the ovary, it is surrounded by follicular fluid. During ovulation, the egg and the fluid, as well as some blood, are released from the ovary. While the exact cause of mittelschmerz is not known, it is believed to be caused by the normal enlargement of the egg in the ovary just before ovulation. Also, the pain could be caused by the normal bleeding that comes with ovulation.Pelvic inflammatory disease can be ruled out if the patient is not sexually active.

Puberty is when a child’s body begins to develop and change as they become an adult.The average age for girls to begin puberty is 11, while for boys the average age is 12.It’s completely normal for puberty to begin at any point from the ages of 8 to 14. The process can take up to 4 years.

Ataxic gait is not a direct association of Down’s syndrome. All other given responses are associated with Down’s syndrome.

Vagus nerve lesions will affect the gag reflex since the pharyngeal muscles are innervated by it.The vagal nerve (10th cranial nerve ) is a mixed nerve carrying motor efferents and sensory afferents. The nerve conducts five distinct qualities, which are carried along general visceral efferent fibres (parasympathetic innervation of pharyngeal, laryngeal, bronchial, and gastrointestinal mucosa), general visceral afferent fibres (sensory information from the thoracic and abdominal viscera, the aortic body, aortic arch), special visceral afferent fibres (carry the taste of the epiglottal region), general somatic afferent fibres (carry sensation from the external auditory meatus, outer tympanic membrane, back of the ear, part of meninges, pharynx), and along special visceral efferent fibres, which innervate skeletal muscles of the pharynx and larynx. Skeletal muscles innervated by the vagal nerve include the cricothyroid, levator veli palatini, salpingopharyngeus, palatoglossal, palatopharyngeus pharyngeal constrictor, and the laryngeal muscles (except cricothyroid). Innervation of these muscles is involved during speech or opening of the larynx during breathing. Efferent parasympathetic fibres control heart rate, peristalsis, and sweating. Stimulation of the efferent parasympathetic fibres lowers heart rate or blood pressure. 80–90% of the vagal fibres are afferent, only 10–20% are efferent fibresPhysical exam of the 10th cranial nerve includes eliciting the gag reflex (The gag reflex involves a brisk and brief elevation of the soft palate and bilateral contraction of pharyngeal muscles evoked by touching the posterior pharyngeal wall.), to look if the uvula is deviated from the side of the lesion, if there is failure of palate elevation upon phonation, and evaluation of speech impairment.In case of bilateral vagal nerve lesions, heart rate and breath rate may be increased. The somatic sensory function can be assessed by testing the sensibility of the external auditory meatus.

Case control studies are used to determine the relationship between exposure to a risk factor and the resultant outcomes. It finds patients in the general population who have a certain condition and retrospectively searches for past exposure to possible risk factors for the disease. Controls are people who do not have the disease found in the general population. This type of study is useful for rare diseases, and is less time consuming to conduct. While cohort studies can be used to study rare diseases they measure the relative risk of developing the disease over time based on exposure. Ecological or cross-sectional studies attempt take a snapshot of a whole population, and thus are inappropriate for rare diseases as larger sample numbers are needed. A randomised control trial is better suited to determine the effect of an intervention.

Insertion sites and sensor sites should be rotated each time the infusion set or glucose sensor is changed. This keeps the tissue healthy and allows previous sites to completely heal before reusing them. Change infusion set every 2 to 3 days to help prevent infection.

The European Society of Human Reproduction and Embryology/American Society for Reproductive Medicine Rotterdam consensus (ESHRE/ASRM) developed and enlarged the diagnosis of PCOS, requiring two of three features: anovulation or oligo-ovulation, clinical and/or biochemical hyperandrogenism, and polycystic ovarian morphology (PCOM) seen on ultrasound. Finally the Androgen Excess Society defined PCOS as hyperandrogenism with ovarian dysfunction or polycystic ovaries

Key observations in the results:

1. Oxygen Saturation Step-Up:
   • There is a significant step-up in oxygen saturation from the right ventricle (72%) to the pulmonary artery (86%). This suggests the presence of left-to-right shunting of blood.
2. Pressure Differences:
   • The pressure in the pulmonary artery is elevated (53/13 mmHg), indicating pulmonary hypertension.

Differential Diagnosis:

1. Patent Ductus Arteriosus (PDA):
   • PDA can cause increased pulmonary blood flow, leading to a step-up in oxygen saturation in the pulmonary artery. The pulmonary artery pressures can also be elevated due to increased blood flow.
2. Primary Pulmonary Hypertension:
   • Typically presents with elevated pulmonary pressures but does not usually show a step-up in oxygen saturation.
3. Pulmonary Stenosis:
   • Would result in elevated right ventricular pressure but would not explain the step-up in oxygen saturation.
4. Septum Primum Atrial Septal Defect (ASD):
   • Would result in a step-up in oxygen saturation from the right atrium to the right ventricle, not between the right ventricle and pulmonary artery.
5. Tetralogy of Fallot:
   • Characterized by right ventricular outflow tract obstruction, VSD, right ventricular hypertrophy, and an overriding aorta. Oxygen saturation levels would typically be lower in the systemic circulation.

Tetralogy of Fallot (TOF), a congenital heart defect, includes the following: right ventricular hypertrophy, ventricular septal defect, abnormal position of the aorta and pulmonary valve stenosis. The O2 saturation in patients with TOF is typically lower than normal and the condition usually becomes symptomatic early in life. A feature of the disease with high diagnostic significance is squatting or crouching of the infant as a compensatory mechanism to increase the peripheral vascular resistance.

Age (years) Respiratory rate (per minute) Heart rate (per minute) Systolic blood pressure<1 30-40 110-160 70-901-2 25-35 100-150 80-952-5 25-30 95-140 80-1005-12 20-25 80-120 90-110>12 15-20 60-100 100-120Adapted from Advanced Paediatric Life Support Manual

The murmur and thrill indicate a right outflow tract murmur, coupled with the right ventricular heave suggests right ventricular hypertrophy. The VSD would not have been amenable to surgery due to the child’s size/weight and so instead would have been palliated with a PA band. As the child grows, this band progressively restricts pulmonary blood flow until the left to right shunt has reversed. Then it is time for the band to be removed and the VSD to be closed.Pulmonary atresia is a cyanotic condition, which may be palliated with an arterial duct stent. This answer is incorrect as the stent placement would not require a midline sternotomy and would give a continuous machinery type murmur. Pulmonary stenosis with PDA ligation is incorrect. The murmur, thrill, and heave all match a pulmonary stenosis but in the absence of an additional shunt lesion the child would not be cyanosed.

This girl most probably has Turner’s syndrome, which is caused by the absence of one set of genes from the short arm of one X chromosome.Turner syndrome is a lifelong condition and needs lifelong oestrogen replacement therapy. Oestrogen is usually started at age 12-15 years. Treatment can be started with continuous low-dose oestrogens. These can be cycled in a 3-weeks on, 1-week off regimen after 6-18 months| progestin can be added later.In childhood, growth hormone therapy is standard to prevent short stature as an adult.Fetal ovarian development seems to be normal in Turner syndrome, with degeneration occurring in most cases around the time of birth so pulsatile GnRH and luteinising hormone would be of no use.

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

This patient has Wilson’s disease. They Kayser-Fleischer ring (ring that encircles the iris) is diagnostic of this. Low serum copper is seen in Wilson’s disease. With the Kayser-Fleischer ring, this makes all of the other answer choices incorrect.

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.

European guidelines suggest that triple therapy for 1 week is acceptable and sufficient for H. pylori eradication. Although triple therapy for 2 weeks might have higher therapeutic rates, it also carries a higher risk of side effects. Triple therapy includes amoxicillin and clarithromycin and a proton-pump inhibitor, usually omeprazole.

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

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

Developmental dysplasia (DDH) of the hip refers to patients who are born with a dislocated or unstable hip due to abnormal development of the hip. Female infants and first born infants are most likely to present with DDH. Other risk factors for DDH include, breech positioning, oligohydramnios, high birth weight or post date babies.

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

Precocious puberty is the attainment of normal pubertal biochemical and physical features at an abnormally earlier age. The age cut-offs commonly used to define precocious puberty are 8 years for females and 9 years for males. The onset of normal puberty is triggered by gonadotropic-releasing hormones from the hypothalamus.In most of the familial cases, the condition is transmitted by affected father. In boys, this makes up about 5% of the cases.Full adult height potential is not achieved in patients of precious puberty, although there is an advanced bone maturation.

Cot death also know as SIDS or Sudden Infant Death syndrome. Putting a baby to sleep on his back has been shown to reduce the risk of SIDS.

CUTANEOUS DISORDERS OR DERMATOSIS ASSOCIATED WITH IBD- Psoriasis- Secondary amyloidosis- Vitiligo- Acquired epidermolysis bullosaIn some cases, non-granulomatous skin disorders occur as a reaction to the intestinal disease. These include:- Pyoderma gangrenosum- Neutrophilic dermatosis / Sweet syndrome, typically with pustules- Pyodermatitis-pyostomatitis vegetans, a purulent erosive dermatosis characterised by snail-track ulcers- Erythema multiforme- Erythema nodosum- Acneiform eruptions including nodulocystic acne, hidradenitis suppurativa and folliculitis- Palisaded neutrophilic and granulomatous dermatitis- Necrotizing and granulomatous small vessel vasculitis.

Based on the given scenario, the most probable diagnosis for this patient is acquired immune deficiency syndrome (AIDS) caused by human immunodeficiency virus (HIV). Thus, the most appropriate investigation to confirm the underlying pathology in this patient would be viral serology. Rationale:The presence of oesophageal candidiasis is highly suggestive of severe immunosuppression. The causes of immunosuppression can be chemotherapy, with haematological malignancy, HIV or inhaled steroids. In patients with HIV, oesophageal candidiasis is part of the spectrum of AIDS-defining illnesses and usually occurs when the CD4 count is < 200 cells/microL. Other AIDS-defining illnesses include PCP pneumonia and CMV infections.Oesophageal Candidiasis:It is characterised by white spots in the oropharynx with extension into the oesophagus. It seldom occurs without an associated underlying risk factor like broad-spectrum antibiotic usage, immunosuppression and immunological disorders.Patients may present with oropharyngeal symptoms, odynophagia and dysphagia.Treatment is directed both at the underlying cause (which should be investigated for) and with oral antifungal agents.

Scabies is a dermatological condition caused by infestation of the Sarcoptes Scaibie. The tiny mite, often unseen by the naked human eye, is able to burrow into the stratum corneum where it lays its eggs, causing irritation and a rash related to the immune response against the mite and its eggs, saliva and faeces. On examination, the pathognomic small burrows are often seen on the skin along with small red papules and scratch marks| granulomatous nodules may also be seen especially in darker skin types. Other clinical subtypes such as bullous, and Norwegian (crusted) also exist. Common areas of infection include the hands, wrists, and the interdigital spaces. Infestation can also occur on the genital area, the buttocks, feet, ankles, flexor surfaces. First line treatment is with permethrin 5% dermal cream. It is important that all members of the household are also treated at the same time, and that contaminated bedding, clothes and furniture is adequately disinfected. Scabies is usually associated with overcrowded conditions.

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.

Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence. Common features of this condition include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, and salt craving. Also common is a tingling or prickly sensation in the skin (paraesthesia), most often affecting the face. Some individuals with Gitelman syndrome experience excessive tiredness (fatigue), low blood pressure, and a painful joint condition called chondrocalcinosis. Studies suggest that Gitelman syndrome may also increase the risk of a potentially dangerous abnormal heart rhythm called ventricular arrhythmia.

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.

Possible complications include:- Hearing loss (which may be partial or total)- problems with memory and concentration- problems with coordination and balance- learning difficulties (which may be temporary or permanent)- epilepsy (Seizures)- cerebral palsy- speech problems- vision loss (which may be partial or total)As hearing loss is the most common complication of meningitis people recovering from the condition are usually given a hearing test to assess their hearing.

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

Congenital hypothyroidism is associated with failure to thrive, macroglossia, prolonged jaundice of a new-born and constipation.

The clinical presentation and leucocytes on the urine dipstick is suggestive of a urinary tract infection. To confirm the diagnosis, urine should be sent for culture and sensitivity.

Children are very prone to dehydration during an episode of gastroenteritis. Dehydration is detected early by increased capillary filling time.