In the first trimester of pregnancy, amniotic fluid is produced from maternal plasma where there is a rapid bi-directional diffusion across the foetal skin. At 10 weeks the volume is about 25ml. By 16th weeks of gestation the foetal kidneys make urine that contributes to the increasing volume of amniotic fluid, along with nasal secretions. At 20 weeks, the level is 400ml and increases to 800ml at 28weeks, after which it reduces to 600ml at term.

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disease. The Lisch nodule represents one of the most common NF1 ocular manifestations.NF1 is caused by a genetic mutation which can cause tumours to grow on nerve endings| these cutaneous neurofibromas are benign tumours which grow on the skin, often first appearing during the hormonal changes that occur in teenage years. They vary in size and can appear anywhere on the body. The number of neurofibromas present differs greatly between individuals and over a lifetime Café au lait spots (coffee coloured birthmarks) are often the first and most common sign of NF1, and these are often found at birth and are usually evident by 2 years of age.Other features of NF1 can include Lisch nodules of the iris (small pigmentation in the iris which causes no disturbance to vision), skin-fold freckling (freckling/pigmentation in the groyne and armpits), plexiform neurofibromas (or sub cutaneous neurofibromas) which are diffuse tumours that grow along a nerve and are found in at least 25 % of people with NF1, optic gliomas (tumour of the optic nerve), and skeletal complications including pseudarthrosis and scoliosis. Macrocephaly (large head size) is also common, and short stature is found in around a third of people with NF1. Rare complications include a risk of malignancy, organs being compromised by neurofibromas, seizures, and hypertension.

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in type IV collagen genes (COL4A5) and are inherited in an X-linked autosomal recessive pattern, although other inheritance patterns exist. Alport syndrome has autosomal dominant inheritance in about 5 percent of cases.

People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (haematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys become less able to function as this condition progresses, resulting in end-stage renal disease (ESRD).

People with Alport syndrome frequently develop sensorineural hearing loss, which is caused by abnormalities of the inner ear, during late childhood or early adolescence. Affected individuals may also have misshapen lenses in the eyes (anterior lenticonus) and abnormal coloration of the light-sensitive tissue at the back of the eye (retina). These eye abnormalities seldom lead to vision loss.

Significant hearing loss, eye abnormalities, and progressive kidney disease are more common in males with Alport syndrome than in affected females.

Breslow thickness is measured from the top of the granular layer of the epidermis (or, if the surface is ulcerated, from the base of the ulcer) to the deepest invasive cell across the broad base of the tumour (dermal/subcutaneous) as described by Breslow.Margins of excision-Related to Breslow thicknessLesions 0-1mm thick – 1cmLesions 1-2mm thick – 1- 2cm (Depending upon site and pathological features)Lesions 2-4mm thick – 2-3 cm (Depending upon site and pathological features)Lesions >4 mm thick – 3cmMarsden J et al Revised UK guidelines for management of Melanoma. Br J Dermatol 2010 163:238-256.

Being anatomically situated immediately posterior to the subclavius muscle and the medial part of the clavicle, the subclavian vein is at the highest risk of injury in the above patient.As a direct tributary of the brachiocephalic vein, it’s injury poses a high risk of massive bleeding.The brachiocephalic vein rests on the first rib, below and in front of the third part of the subclavian artery, and then on scalenus anterior which separates it from the second part of the artery (posteriorly).Anatomy of the clavicle:The clavicle extends from the sternum to the acromion and helps prevent the shoulder falling forwards and downwards.

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

Drug withdrawal symptoms after a period of substance abuse can lead to a range of symptoms. Amphetamines are known to cause hypersomnia, hyperphagia, and irritability, as well as vivid dreams as a result of withdrawal. Similar symptoms are found in cocaine withdrawal. Alcohol withdrawal presents with symptoms such as insomnia, tremulousness and delirium. Ecstasy withdrawal includes irritation, mood swings, fatigue and insomnia. Heroin withdrawal presents with symptoms which include dilated pupils, insomnia, abdominal cramps and muscle aches. Withdrawal from prolonged cannabis use can cause depression, anxiety restlessness and insomnia.

6 month old babies that go through normal developmental milestones, should enjoy playing with others and especially their parents.The other milestones are expected of a 9-month-old.

The most possible diagnosis is SVT. The boy is suffering from hemodynamic instability, as indicated by his cold extremities. DC cardioversion is the treatment of choice.

The clinical presentation of lichen planus has several variations, as follows:- Hypertrophic lichen planus- Atrophic lichen planus- Erosive/ulcerative lichen planus- Follicular lichen planus (lichen planopilaris)- Annular lichen planus- Linear lichen planus- Vesicular and bullous lichen planus- Actinic lichen planus- Lichen planus pigmentosus- Lichen planus pemphigoides

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

Milestones of 6 monthsSocial and EmotionalKnows 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/CommunicationResponds to sounds by making sounds Strings vowels together when babbling (“ah,” “eh,” “oh”) and likes taking turns with the 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 DevelopmentRolls 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

The Green Book guidelines report in an active infection (HBeAg+ and HBsAg+) to give the vaccine as well as immunoglobulin. If antibodies are present it is not active infection (anti-Hbe) and then in that case only the vaccine, and no immunoglobulin, would be given. The presence of HBeAg means a person is infectious and can transmit to other people.

Absence epilepsy is the most common type of generalized childhood epilepsies. It is mainly idiopathic, but 10-40% of the cases have a positive family history. It is characterized by frequent absence seizures and periods of unconsciousness. The hallmark of absence epilepsy on EEG is the bilaterally synchronous 2–4 Hz spike and wave discharges (SWDs). The average age of onset is around 4-8 years, being more prevalent among girls. Treatment resistance is not common.

The age of the patient and the presence of immature white blood cells are suggestive of leukaemia. Hodgkin’s disease is unlikely in this age group and it usually presents with lymphadenopathy. In HIV, immature white blood cells are not present in the blood.

Keratosis pilaris most often affects the outer aspect of both upper arms. It may also occur on the thighs, buttocks and sides of the cheeks, and less often on the forearms and upper back. The distribution is symmetrical.The scaly spots may appear skin coloured, red (keratosis pilaris rubra) or brown (hyperpigmented keratosis pilaris). They are not itchy or sore.Macules are flat, nonpalpable lesions usually < 10 mm in diameter.Examples include freckles, flat moles, tattoos, and port-wine stains, and the rashes of rickettsial infections, rubella, measles (can also have papules and plaques), and some allergic drug eruptions.Papules are elevated lesions usually < 10 mm in diameter that can be felt or palpated. Examples include nevi, warts, lichen planus, insect bites, seborrheic keratoses, actinic keratoses, some lesions of acne, and skin cancers. Plaques are palpable lesions > 10 mm in diameter that are elevated or depressed compared to the skin surface. Plaques may be flat topped or rounded. Lesions of psoriasis and granuloma annulare commonly form plaques.Nodules are firm papules or lesions that extend into the dermis or subcutaneous tissue. Examples include cysts, lipomas, and fibromas.Vesicles are small, clear, fluid-filled blisters < 10 mm in diameter. Vesicles are characteristic of herpes infections, acute allergic contact dermatitis, and some autoimmune blistering disorders (e.g., dermatitis herpetiformis).Bullae are clear fluid-filled blisters > 10 mm in diameter. These may be caused by burns, bites, irritant contact dermatitis or allergic contact dermatitis, and drug reactions. Classic autoimmune bullous diseases include pemphigus vulgaris and bullous pemphigoid. Bullae also may occur in inherited disorders of skin fragility.

The boy had a renal transplant, for which he needs immune suppression. For the exogenous immune suppression an exogenous steroid is needed, which in this case is responsible for the primary Cushing syndrome manifesting with short stature. The administration of steroids before the physiological fusion of the growth plate can lead to premature fusion with permanent cessation of bone growth.

Inhaled objects are more likely to enter the right lung for several reasons. First the right bronchus is shorter, wider and more vertical than the left bronchus. Also, the carina (a ridge-like structure at the point of tracheal bifurcation) is set a little towards the left. The terminal bronchiole is a very small space and impossible for the seed to lodge here.

A ventricular septal defect (VSD) is a common form of congenital heart defects and is characterised by the presence of a hole in the wall that separates the right from the left ventricle. Medium or large defects can cause many complications. One of these complication is Eisenmenger syndrome, characterised by reversal of the shunt (from left-to-right shunt into a right-to-left) ,cyanosis and pulmonary hypertension.

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.

Skin conditions resulting from excessive epidermal proliferation or inflammation, leading to a production of excessive scales, are referred to as papulosquamous disorders. These disorders can be generalized and localized. Localized causes of scaly lesions include tinea corporis, tinea cruris, tinea pedis, seborrheic dermatitis, psoriasis, pityriasis Versicolor, pityriasis alba, DLE, ichthyosis including Netherton syndrome (a severe form of ichthyosis which is autosomal recessive), and pellagra. Generalized causes include guttate psoriasis and pityriasis rosacea. Hand, foot, and mouth disease is a contagious viral illness that causes blisters in the mouth and on the extremities.

Blood culture and sensitivity will distinguish the bacteria that is responsible for the infection and the effective antibiotic treatment to which the bacteria is sensitive.

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).

Answer: Bochdalek herniaA Bochdalek hernia is one of two forms of a congenital diaphragmatic hernia, the other form being Morgagni hernia. A Bochdalek hernia is a congenital abnormality in which an opening exists in the infant’s diaphragm, allowing normally intra-abdominal organs (particularly the stomach and intestines) to protrude into the thoracic cavity. In the majority of patients, the affected lung will be deformed, and the resulting lung compression can be life-threatening. Bochdalek hernias occur more commonly on the posterior left side (85%, versus right side 15%).In normal Bochdalek hernia cases, the symptoms are often observable simultaneously with the baby’s birth. A few of the symptoms of a Bochdalek Hernia include difficulty breathing, fast respiration and increased heart rate. Also, if the baby appears to have cyanosis (blue-tinted skin) this can also be a sign. Another way to differentiate a healthy baby from a baby with Bochdalek Hernia, is to look at the chest immediately after birth. If the baby has a Bochdalek Hernia it may appear that one side of the chest cavity is larger than the other and or the abdomen seems to be scaphoid (caved in).Situs inversus (also called situs transversus or oppositus) is a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions. The normal arrangement of internal organs is known as situs solitus while situs inversus is generally the mirror image of situs solitus. Although cardiac problems are more common than in the general population, most people with situs inversus have no medical symptoms or complications resulting from the condition, and until the advent of modern medicine it was usually undiagnosed. In the absence of congenital heart defects, individuals with situs inversus are homeostatically normal, and can live standard healthy lives, without any complications related to their medical condition. There is a 5–10% prevalence of congenital heart disease in individuals with situs inversus totalis, most commonly transposition of the great vessels. The incidence of congenital heart disease is 95% in situs inversus with levocardia.Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. When the protein is not working correctly, it’s unable to help move chloride — a component of salt — to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky. In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infections, inflammation, respiratory failure, and other complications. Necrotizing enterocolitis (NEC) is a medical condition where a portion of the bowel dies. It typically occurs in new-borns that are either premature or otherwise unwell. Symptoms may include poor feeding, bloating, decreased activity, blood in the stool, or vomiting of bile.The exact cause is unclear. Risk factors include congenital heart disease, birth asphyxia, exchange transfusion, and premature rupture of membranes. The underlying mechanism is believed to involve a combination of poor blood flow and infection of the intestines. Diagnosis is based on symptoms and confirmed with medical imaging.Morgagni hernias are one of the congenital diaphragmatic hernias (CDH), and is characterized by herniation through the foramen of Morgagni. When compared to Bochdalek hernias, Morgagni hernias are:-anterior-more often right-sided (,90%)-small-rare (,2% of CDH)-at low risk of prolapseOnly ,30% of patients are symptomatic. New-borns may present with respiratory distress at birth similar to a Bochdalek hernia. Additionally, recurrent chest infections and gastrointestinal symptoms have been reported in those with previously undiagnosed Morgagni hernia.The image of the transverse colon is herniated into the thoracic cavity, through a mid line defect and this indicates that it is a Morgagni hernia since the foramen of a Morgagni hernia occurs in the anterior midline through the sternocostal hiatus of the diaphragm, with 90% of cases occurring on the right side.Clinical manifestations of congenital diaphragmatic hernia (CDH) include the following:Early diagnosis – Right-side heart| decreased breath sounds on the affected side| scaphoid abdomen| bowel sounds in the thorax, respiratory distress, and/or cyanosis on auscultation| CDH can often be diagnosed in utero with ultrasonography (US), magnetic resonance imaging (MRI), or bothLate diagnosis – Chest mass on chest radiography, gastric volvulus, splenic volvulus, or large-bowel obstructionCongenital hernias (neonatal onset) – Respiratory distress and/or cyanosis occurs within the first 24 hours of life| CDH may not be diagnosed for several years if the defect is small enough that it does not cause significant pulmonary dysfunctionCongenital hernias (childhood or adult onset) – Obstructive symptoms from protrusion of the colon, chest pain, tightness or fullness the in chest, sepsis following strangulation or perforation, and many respiratory symptoms occur.

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 most appropriate next step would be to request for an EEG (electroencephalogram).The two primary differential diagnoses for the clinical scenario presented would be night terrors (hypnopompic hallucinations) due to underlying narcolepsy or frontal lobe epilepsy.Though occult airway obstruction and obstructive sleep apnoea can cause sleep disturbances, the clinical scenario presented is more suggestive of neurological disorders.The hyper-motor activity, along with arm posturing (often dystonic in appearance) and multiple occurrences per night would favour epilepsy. The daytime somnolence could be secondary to the nocturnal seizures.

Foreign body aspiration (FBA) commonly occurs in children aged 1–3 years. FBA typically presents with sudden onset of coughing and choking, followed by stridor and dyspnoea. Obstruction of the larynx or trachea is a potentially life-threatening situation that causes severe respiratory distress, cyanosis, and suffocation. Most commonly, the foreign body (FB) becomes lodged in the main and intermediate bronchi| approx. 60% of FB are located in the right main bronchus due to the more vertical orientation compared to the left main bronchus. Reduced breath sounds on the one side only would not be explained by a tracheal obstruction as it would cause reduced breath sounds bilaterally and a more severe clinical picture.

Familial adenomatous polyposis can have different inheritance patterns.When familial adenomatous polyposis results from mutations in the APC gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.When familial adenomatous polyposis results from mutations in the MUTYH gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.

Guidelines suggest that when hypothermia manifests in the context of a shockable rhythm, it might get harder to defibrillate. Therefore, defibrillation is recommended to occur at temperatures below 30°C, and to be limited in three shocks.

Management of acute otitis media should begin with adequate analgesia. Antibiotic therapy can be deferred in children two years or older with mild symptoms. Antibiotics should be prescribed immediately if:- Symptoms lasting more than 4 days or not improving- Systemically unwell but not requiring admission- Immunocompromise or high risk of complications secondary to significant heart, lung, kidney, liver, or neuromuscular disease- Younger than 2 years with bilateral otitis media- Otitis media with perforation and/or discharge in the canaHigh-dose amoxicillin (80 to 90 mg per kg per day) is the antibiotic of choice for treating acute otitis media in patients who are not allergic to penicillin, otherwise erythromycin or clarithromycin should be given.

A cohort study is a particular form of longitudinal study that samples a cohort (a group of people who share a defining characteristic, typically those who experienced a common event in a selected period, such as birth or graduation), performing a cross-section at intervals through time.
The relative risk (RR) or risk ratio is the ratio of the probability of an outcome in an exposed group to the probability of an outcome in an unexposed group. Relative risk is used in the statistical analysis of the data of experimental, cohort and cross-sectional studies, to estimate the strength of the association between treatments or risk factors, and outcomes.

Types of DNA mutations and their impactpoint mutation:Substitution: One base is incorrectly added during replication and replaces the pair in the corresponding position on the complementary strand as in Sickle cell anaemiaInsertion: One or more extra nucleotides are inserted into replicating DNA, often resulting in a frameshift as in one form of beta-thalassemiaDeletion: One or more nucleotides is skipped during replication or otherwise excised, often resulting in a frameshift as in Cystic fibrosis.Chromosomal mutation:Inversion: One region of a chromosome is flipped and reinserted as in Opitz-Kaveggia syndromeDeletion: A region of a chromosome is lost, resulting in the absence of all the genes in that area as in Cri du chat syndromeDuplication: A region of a chromosome is repeated, resulting in an increase in dosage from the genes in that region as in some cancers and Charcot-Marie toothTranslocation: A region from one chromosome is aberrantly attached to another chromosome as in One form of leukaemiaCopy number variation:Gene amplification: The number of tandem copies of a locus is increased as in Some breast cancersExpanding trinucleotide repeat: The normal number of repeated trinucleotide sequences is expanded as in Fragile X syndrome, Huntington’s disease

Insufficient surfactant production in premature infants leads to respiratory distress syndrome or surfactant deficient lung disease (SDLD), characterized by structurally immature lungs. There are many risk factors of this disease, some of them include male gender, caesarean section, infants of diabetic mothers, being the second born of the premature twins, perinatal asphyxia, sepsis, and hypothermia. Maternal hypertension is not a recognized risk factor for respiratory distress syndrome| instead, pregnancy-induced hypertension and chronic maternal hypertension are the protective factors against this disease.

Cushing reflex is a physiological nervous system response to increased intracranial pressure (ICP) that results in Cushing’s triad of increased blood pressure, irregular breathing, and bradycardia. It is usually seen in the terminal stages of acute head injury and may indicate imminent brain herniation. It can also be seen after the intravenous administration of epinephrine and similar drugs.

Pale, bulky, malodorous stools are evidence of fat malabsorption syndrome. The diagnostic test is jejunal biopsy to rule out other differential diagnoses such as celiac disease, giardiasis or Crohn’s disease etc.

The percentages of body water contained in various fluid compartments add up to total body water (TBW). This water makes up a significant fraction of the human body, both by weight and by volume. Ensuring the right amount of body water is part of fluid balance, an aspect of homeostasis. The extracellular fluid (ECF) includes all fluids outside the cells. This fluid can be divided into three fluid departments: interstitial (in the tissue spaces) fluid, blood plasma and lymph, and specialised compartments called transcellular fluid. The extracellular fluid surrounds all the cells in the body and is in equilibrium with the intracellular fluid. So, its composition must remain fairly constant even though substances are passing into and out of the cells. The interstitial fluid, though called a fluid, is in a reality a gel-like composition made up of: water, proteoglycan molecules and collagen. The extracellular fluid constitutes 40% of total body water, with intracellular fluid making up the remaining 60%. It is relatively rich in glucose.

Neonatal hypoglycaemia is a common yet serious condition characterized by blood sugar levels less than 2.2mmol/L during the first 3 days of life and less than 2.5mmol/L later on. There are multiple aetiologies and various risk factors that lead to hypoglycaemia in new-borns like prematurity, sepsis, inborn errors of metabolism, and maternal diabetes- induced hyperinsulinism in the new-born. Among the inborn errors of metabolism, fatty acid oxidation defects can lead to persistent hypoglycaemia in new-borns. One such defect is the medium- chain acyl CoA dehydrogenase deficiency, which is the enzyme needed for the breakdown of medium- chain fatty acids.

The study described in the question is a ‘cohort’ study.Other options:A prospective observational study – When groups are classified according to one or more factors at a given time and followed forward to determine outcomes (usually some health status)- Although there is in one sense a control group (those who do not develop the health problem), this is not generally called a ‘controlled’ trial. – An ecological study would look at outcomes in different groups (countries or regions usually) who follow different practices.

Retinopathy of prematurity affects infants born early, and is due to the abnormal growth of retinal vasculature as opposed to vascular occlusion often see in adults. Though most babies with ROP can see normally, the most significant complication of ROP Is retinal detachment which can lead to blindness. Other structures in the eye such as the optic nerve or the fovea however, are not affected. Children may develop nystagmus as a result of poor sight in the affected eye(s).

Possible Zika virus infections have been identified in breastfeeding babies, but Zika virus transmission through breast milk has not been confirmed. Additionally, we do not yet know the long-term effects of Zika virus on young infants infected after birth. Because current evidence suggests that the benefits of breastfeeding outweigh the risk of Zika virus spreading through breast milk, CDC continues to encourage mothers to breastfeed, even if they were infected or lived in or travelled to an area with risk of Zika.

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.

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

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.

The most probable diagnosis for this patient is Maple syrup urine disease (MSUD).Note:- Healthy new-borns have blood sugars between 3.3 and 5 mmol/L- Neonatal hypoglycaemia is glucose < 2.2 mmol/L if measured in the first 3 days of life.- Neonatal hypoglycaemia is glucose < 2.5 mmol/L after the first 3 days of life.Causes of persistent hypoglycaemia include:- Preterm- IUGR- SGA- Hyperinsulinism due to maternal diabetes- Beckwith-Wiedemann syndrome- Hypoxia at birth- Sepsis- Cardiopulmonary disease- Inborn errors of metabolism- Hepatic enzyme deficiencies- Glycogen storage disease

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

Precocious puberty is the development of secondary sexual characteristics before the age of 8 in females, and 9 in males. The first sign of early puberty in females is breast enlargement, followed by the appearance of pubic and axillary hair, and finally menarche, 2-3 years after the onset of thelarche. Precocious puberty is caused by the premature activation of the hypothalamic-pituitary-gonadal axis where FSH and LH levels are raised. Less common is the gonadotrophin independent form, which is due to excess sex hormones, but low FSH and LH levels.

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.

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.

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

Idiopathic hypercalciuria (IH) is the commonest metabolic abnormality in patients with calcium kidney stones. It is characterized by normocalcemia, absence of diseases that cause increased urine calcium, and calcium excretion that is above 250 mg/day in women and 300 mg/day in men. Subjects with IH have a generalized increase in calcium turnover, which includes increased gut calcium absorption, decreased renal calcium reabsorption, and a tendency to lose calcium from bone. Despite the increase in intestinal calcium absorption, negative calcium balance is commonly seen in balance studies, especially on a low calcium diet. The mediator of decreased renal calcium reabsorption is not clear| it is not associated with either an increase in filtered load of calcium or altered PTH levels. There is an increased incidence of hypercalciuria in first-degree relatives of those with IH, but IH appears to be a complex polygenic trait with a large contribution from diet to expression of increased calcium excretion. Increased tissue vitamin D response may be responsible for the manifestations of IH in at least some patients.

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.

Fabry disease (Angiokeratoma corporis diffusum) is an X-linked lysosomal disorder which occurs due to deficiency or absence of alpha-galactosidase A (α-GAL A) activity as a result of a genetic mutation in the GLA gene. As Fabry’s disease follows X-linked genetics it manifestis predominantly in men. Ongoing burning, tingling pain and discomfort, known as acroparesthesia, mainly affecting the hands and feet is the most debilitating symptom in childhood.

Meckel’s diverticulum is a congenital diverticulum of the small intestine. It is a remnant of the omphalomesenteric duct (also called the vitellointestinal duct) and contains ectopic ileal, gastric or pancreatic mucosa.Rule of 2’s- occurs in 2% of the population- it is located 2 feet proximal to the ileocaecal valve- it is 2 inches long- it is 2 times more common in men- there are 2 tissue types involvedIt is typically asymptomatic. Symptomatic presentation indicates inflammation of the diverticulum. The symptoms include:- Abdominal pain mimicking appendicitis- Rectal bleeding- Intestinal obstruction: secondary to an omphalomesenteric band (most commonly), volvulus and intussusceptionManagement:Surgical removal if the neck of the diverticulum is narrow or symptomatic. Surgical options are excision or formal small bowel resection and anastomosis.

Cortisol is secreted in a circadian pattern.The secretion of cortisol is regulated by the suprachiasmatic nucleus located in the hypothalamus.Other options:- FSH, LH, GH and prolactin are secreted in a pulsatile pattern, i.e. these hormones are secreted in an episodic manner rather than continuously.- Thyroxine is secreted in a continuous pattern, not pulsatile.- The secretion of ACTH is in response to stress.Secondary to stress, the hypothalamus secretes corticotrophin releasing hormones, which are transported to the pituitary gland via the hypophyseal–portal system. ACTH is then released by the pituitary gland and binds to its receptor on the adrenal gland, which releases cortisol.

In the Hirschberg test, the corneal reflex should fall in the same place in both eyes. If there is a malalignment then the reflection of the light will appear in different places in the two eyes. The cover test is then used to differentiate between a latent deviation, or a manifest deviation.In the Bruckner test, the direct ophthalmoscope is used to obtain a red reflex simultaneously in both eyes. If strabismus is present, the deviated eye will have a lighter and brighter reflex than the fixating eye.The swinging flashlight test is a test of the pupils response to light, and to check for a relative afferent pupillary defect (RAPD).The Angle Kappa test measures the angle between the line of sight and the corneal-pupillary axis. It is a monocular measurement.

Time- EventWeek 1: ImplantationWeek 2: Formation of bilaminar diskWeek 3: Formation of primitive streakFormation of notochordGastrulationWeek 4: Limb buds begin to formNeural tube closesHeart begins to beatWeek 10: Genitals are differentiated

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

A minority of affected individuals may experience severe liver failure. This happens most frequently in people with Wilson’s disease during adolescence and more commonly in women. These individuals may rapidly develop signs and symptoms of liver disease, often associated with anaemia due to breakdown of red blood cells (haemolysis) and mental confusion. In some patients, liver disease does not reveal itself, and the patient develops neurologic (brain-related) symptoms. Common neurological symptoms of Wilson disease that may appear and progress with time include tremor, involuntary movements, difficulty swallowing (dysphagia), difficulty speaking and poor articulation (dysarthria), lack of coordination, spasticity, dystonic postures, and muscle rigidity. Almost all affected individuals with the neurological symptoms of Wilson’s disease have Kayser-Fleischer rings in their eyes that can be identified by a slit lamp examination.

Reed-Sternberg cells are classically associated with Hodgkin lymphoma.Classical diagnostic Reed-Sternberg cells are large (15 to 45 micrometres), have abundant slightly basophilic or amphophilic cytoplasm and have at least two nuclear lobes or nuclei. Diagnostic Reed-Sternberg cells must have at least two nucleoli in two separate nuclear lobes. The nuclei are large and often rounded in contour with a prominent, often irregular nuclear membrane, pale chromatin and usually one prominent eosinophilic nucleolus, with perinuclear clearing (halo), resembling a viral inclusion.

Pupils are dilated in patients with amitriptyline overdose.Tricyclic antidepressants have a narrow therapeutic index, and thus, small doses can be fatal in children. Deaths from tricyclics are more common than other antidepressants. Bimodal incidence with toddlers (accidental) and teenagers (deliberate) most commonly affected.Symptoms: They occur within 6 hours of ingestion.- Nausea, vomiting, and headache- Elevated body temperature- Agitation, sleepiness, confusion, coma- Dry mouth, blurred vision, urinary retention (anticholinergic)- Dilated pupils- Seizures- Hypotension, tachycardia, conduction disorders, and cardiac arrest- Respiratory depressionManagement:Treatment focuses on supportive care. This includes airway protection, ventilation and oxygenation, intravenous fluids, and cardiac monitoring.Other measures include:- Activated charcoal within 2 hours- Hypotension is treated with IV fluids and adrenaline- Cardiac monitoring- Sodium bicarbonate in acidosis or if there are wide QRS complex (> 100 ms)- Convulsions may require diazepam or lorazepam.

Hematopoietic stem cells (HSCs) are a rare population of cells residing in the bone marrow (BM) and continuously replenish all mature blood cells throughout their life span.

Based on the presentation, the child most probably is suffering from a refractive error.Astigmatism, myopia and high hypermetropia could all cause these symptoms. This child has difficulty in using vision for finer tasks such as reading. Mild to moderate refractive error would not impair the child’s ability to play or even watch television as for the child in question. Note: Refractive error is the most common treatable cause of reduced vision in children all over the world! Other options:- A congenital cataract is rare and retinal dystrophy is even rarer. – Amblyopia would suggest poor vision in only one eye, something that might not cause symptoms in this age group. – Parents or teachers would have probably noticed squint if it was present.

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

A periosteal reaction can result from a large number of causes, including injury and chronic irritation due to a medical condition such as hypertrophic osteopathy, bone healing in response to fracture, chronic stress injuries, subperiosteal hematomas, osteomyelitis, and cancer of the bone. This history is consistent with a toddler’s fracture. Here a minor, usually twisting, injury results in a spiral fracture of the tibia. An initial X-ray may appear normal as the periosteum holds the bone together preventing displacement. Ten days later a repeat X-ray will show callous formation and confirm the diagnosis.

The most probable cause for chronic parotitis in this patient would be HIV infection.Rationale:Chronic infectious parotitis is relatively uncommon in children. While mycobacterial infection can result in chronic parotitis, HIV is a relatively more common cause. The presentation should always prompt an HIV test. Other options:- While mumps is the most common cause of acute viral parotitis, the chronic nature of the boy’s presentation rules it out. – Acute bacterial parotitis is usually unilateral and is warm and tender to touch.

Advancing paternal age has been linked with lower quality sperm leading to a reduction in overall fertility and an increase in the occurrence of various medical disorders in the fetus. Advanced paternal age has been implicated as a risk factor for diseases like retinoblastoma, achondroplasia, autism spectrum disorders, schizophrenia, and acute lymphoblastic leukaemia. Down’s syndrome is mostly considered a consequence of advanced maternal age, but advanced paternal age has also been implicated as a risk factor.

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.

Intussusception is a condition in which one segment of intestine telescopes inside of another, causing an intestinal obstruction. Although intussusception can occur anywhere in the gastrointestinal tract, it usually occurs at the junction of the small and large intestines. Most describe the symptoms of intussusception as a triad of colicky abdominal pain, bilious vomiting, and currant jelly stool. The primary symptom of intussusception is described as intermittent crampy abdominal pain.

Histology of psoriasis is characterised by parakeratosis (cell nuclei within stratum corneum) and thickened projections of the prickle cell layer of keratinocytes (psoriasiform hyperplasia or acanthosis). Orthokeratosis refers to the formation of a pathological anuclear keratin layer in the skin.The stratum granulosum is actually thinned or absent in patients with psoriasis.

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

Metabolic alkalosis is characterized by a primary increase in the concentration of serum bicarbonate ions. This may occur as a consequence of a loss of hydrogen ions or a gain in bicarbonate. Hydrogen ions may be lost through the kidneys or the GI tract, as for example during vomiting, nasogastric suction or use of diuretics. Intracellular shifting of hydrogen ions develops mainly during hypokalaemia to maintain neutrality. Gain in bicarbonate ions may develop during administration of sodium bicarbonate in high amounts or in amounts that exceed the capacity of excretion of the kidneys, as seen in renal failure. Fluid losses may be another cause of metabolic alkalosis, causing the reduction of extracellular fluid volume.

Maternal smoking is one of the most significant risk factors for pyloric stenosis.Remember the three Ps for Pyloric Stenosis:P – palpable massP – peristalsisP – projectile vomiting

The most appropriate imaging modalities to be used in this child would be CT Head, C-spine and Abdomen/Pelvis and chest X-ray (CXR).The C-spine cannot be cleared, this alongside a multi-trauma presentation means a CT C-spine is indicated rather than X-rays alone. The imaging modality for blunt trauma to the chest is CXR| if this shows significant thoracic trauma, a CT chest should be considered. Other options:- CT Head and Abdomen/Pelvis with CXR and X-ray C-spine: This child is at risk of C-Spine injury following the mechanism of trauma. He had a reduced GCS, has undergone a multi-region trauma and is now intubated. NICE head injury guidelines, therefore, recommend using CT.- CT Head, C-spine and Abdomen/Pelvis X-rays: Imaging of the chest is required following blunt trauma and for endotracheal tube position.- MRI Head: If there were concerns of abnormal neurology, then spinal MRI could be considered.- Whole-body CT: It is not recommended in children in view of the high radiation doses.

Gait variations in children are usually physiologically normal and only become a cause of concern when they persist or are associated with pain or other medical symptoms. Genu varus, also known as knock knees causes an outward rotation of the leg, leading the toes pointing outwards. The condition usually resolves by the age of 18 months. In comparison, in- toeing occurs with genu varus. Metatarsus adductus is also associated with an inward pointing of the toes.

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.

The IM dose of adrenaline for anaphylaxis in:< 6 months: 150 micrograms (0.15ml 1 in 1,000)6 months - 6 years: 150 micrograms (0.15ml 1 in 1,000)6 - 12 years: 300 micrograms (0.3ml 1 in 1,000)Adult and child > 12 years: 500 micrograms (0.5ml 1 in 1,000)Anaphylaxis:Anaphylaxis is an acute, rapidly progressing, potentially life-threatening IgE mediated Type I hypersensitivity reaction.It involves the release of mediators from mast cells, basophils and inflammatory cells. It is characterised by oedematous swelling of the airway mucosa giving rise to dyspnoea and respiratory distress. The most common cause of anaphylaxis in children is a food allergy.Risk factors for death in patients with anaphylaxis include asthma, age 11+, peanut allergy, and delay in adrenaline administration.Management of anaphylaxis includes:- ABCD- Remove the allergen- IM adrenaline or Nebulised adrenaline- IV Hydrocortisone – pro re nata IV fluid support. – Followed by observation.

The thyroglossal duct cyst is the most common congenital anomaly of the central portion of the neck. The thyroglossal duct cyst is intimately related to the central portion of the hyoid bone and usually elevates along with the larynx during swallowing. Thyroglossal cysts can be defined as an irregular neck mass or a lump which develops from cells and tissues left over after the formation of the thyroid gland during the developmental stages.

An odds ratio (OR) is a measure of association between an exposure and an outcome. The OR represents the odds that an outcome will occur given a particular exposure, compared to the odds of the outcome occurring in the absence of that exposure. Odds ratios are most commonly used in case-control studies, however they can also be used in cross-sectional and cohort study designs as well (with some modifications and/or assumptions). Wherea = Number of exposed casesb = Number of exposed non-casesc = Number of unexposed casesd = Number of unexposed non-casesOR=(a/c) / (b/d) = ad/bc

Eight percentage of infantile haemangiomas are focal and solitary. Sixty percent of cutaneous haemangiomas occur on the head and neck, 25% on the trunk, and 15% on the extremities. Haemangiomas also can occur in extracutaneous sites, including the liver, gastrointestinal tract, larynx, CNS, pancreas, gall bladder, thymus, spleen, lymph nodes, lung, urinary bladder, and adrenal glands.Guidelines on the management of infantile haemangioma were released in December 2018 by the American Academy of Paediatrics stating that:Imaging is not necessary unless the diagnosis is uncertain, there are five or more cutaneous infantile haemangiomas present, or there is suspicion of anatomic abnormalities.

Any blood test used to detect HIV infection must have a high degree of sensitivity (the probability that the test will be positive if the patient is infected) and specificity (the probability that the test will be negative if the patient is uninfected). Unfortunately, no antibody test is ever 100 % sensitive and specific. Therefore, if available, all positive test results should be confirmed by retesting, preferably by a different test method. HIV antibody tests usually become positive within 3 months of the individual being infected with the virus (the window period). In some individuals, the test may not be positive until 6 months or longer (considered unusual). In some countries, home testing kits are available. These tests are not very reliable, and support such as pre and post test counselling is not available.

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.

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

Ectoderm derivatives include the adrenal medulla, posterior pituitary, the epidermis of the skin, nails, hair, sweat glands, mammary glands, sebaceous glands, the central nervous system, the peripheral nervous system, the retina and lens of eye, the pupillary muscle of the iris, melanocytes, Schwann cells and odontoblasts.

Epiglottitis is characterized by the abrupt onset of severe symptoms. Without airway control and medical management, symptoms may rapidly progress to respiratory obstruction and death in a matter of hours.Usually, no prodromal symptoms occur in children. Fever is usually the first symptom, and temperatures often reach 40°C. Acute epiglottitis may result in sudden, complete upper airway obstruction. Classic signs in children are four D’s: drooling, dyspnoea, dysphagia, and dysphonia.

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.

This clinical case is most probably due to intussusception complicated by sepsis. Regardless of the cause, the baby is sick and in a critical condition. The first thing to do is to preserve the vital signs and resuscitate with IV fluids. As sepsis is suspected, you should also start on triple antibiotics.

A peripheral blood film in iron deficiency anaemia can reveal the following morphologically variant RBCs:- Microcytic cells- Hypochromic cells- Pencil cells- Target cellsOther options:- Schistocytes can be caused by mechanical heart valves. – Rouleaux can be seen in chronic liver disease and malignant lymphoma. – Tear-drop poikilocytes can be seen in myelofibrosis. – Acanthocytes can be seen in liver disease and McLeod blood group phenotype.Pathological red cell forms include:- Target cells: Sickle-cell/thalassaemia, iron-deficiency anaemia, hyposplenism, and liver disease.- Tear-drop poikilocytes: Myelofibrosis- Spherocytes: Hereditary spherocytosis and autoimmune haemolytic anaemia- Basophilic stippling: Lead poisoning, thalassaemia, sideroblastic anaemia, and myelodysplasia- Howell-Jolly bodies: Hyposplenism- Heinz bodies: G6PD deficiency and alpha-thalassaemiaSchistocytes (‘helmet cells’): Intravascular haemolysis, mechanical heart valve, and disseminated intravascular coagulation- Pencil poikilocytes: Iron deficiency anaemia- Burr cells (echinocytes): Uraemia and pyruvate kinase deficiency – Acanthocytes: Abetalipoproteinemia

Prepubertal atrophic vaginitis is due to a lack of vaginal oestrogen. The pathophysiology behind prepubertal atrophic vaginitis:1.The proximity of the vagina to the anus2.Lack of oestrogen – leads to thinning of the vaginal mucosa3.Lack of pubic hair to protect the area4.Lack of labial fat pads

Intussusception is the most suggested case here based on the child’s symptoms. The urgent course of treatment is to bring the child to a paediatric surgical unit. If air reduction attempts fail, surgery will have to be done. Risk factors for intussusception include viral infection and intestinal lymphadenopathy.

According to NICE guidelines:Do not offer lithium to women who are planning a pregnancy or pregnant, unless antipsychotic medication has not been effective.If antipsychotic medication has not been effective and lithium is offered to a woman who is planning a pregnancy or pregnant, ensure:the woman knows that there is a risk of fetal heart malformations when lithium is taken in the first trimester, but the size of the risk is uncertain. Lithium levels may be high in breast milk with a risk of toxicity for the baby.If a woman taking lithium becomes pregnant, consider stopping the drug gradually over 4 weeks if she is well. Explain to her that:stopping the medication may not remove the risk of fetal heart malformations and there is a risk of relapse, particularly in the postnatal period, if she has bipolar disorder.If a woman taking lithium becomes pregnant and is not well or is at high risk of relapse, consider:switching gradually to an antipsychotic or stopping lithium and restarting it in the second trimester (if the woman is not planning to breastfeed and her symptoms have responded better to lithium than to other drugs in the past) or continuing with lithium if she is at high risk of relapse and an antipsychotic is unlikely to be effective. If a woman continues taking lithium during pregnancy:- check plasma lithium levels every 4 weeks, then weekly from the 36th week. Adjust the dose to keep plasma lithium levels in the woman’s therapeutic range- ensure the woman maintains an adequate fluid balance- ensure the woman gives birth in the hospital- ensure monitoring by the obstetric team when labour starts, including checking plasma lithium levels and fluid balance because of the risk of dehydration and lithium toxicity- stop lithium during labour and check plasma lithium levels 12 hours after her last dose.

Syphilis is an infectious venereal disease caused by the spirochete Treponema pallidum. Syphilis is transmissible by sexual contact with infectious lesions, from mother to foetus in utero, via blood product transfusion, and occasionally through breaks in the skin that come into contact with infectious lesions. If untreated, it progresses through 4 stages: primary, secondary, latent, and tertiary.

Hypogonadotropic hypogonadismIn Kallmann syndrome: impaired migration of GnRH cells and defective olfactory bulb → ↓ GnRH in hypothalamus → ↓ FSH and ↓ LH → ↓ testosterone and ↓ oestrogenIn hypothalamic and/or pituitary lesions: ↓ pituitary gonadotropins (↓ FSH and ↓ LH) → ↓ testosterone and ↓ oestrogen

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.

The embryonic period comprises of the first 8 weeks of pregnancy. It is divided into a preembryonic phase (from the 1st to the 3rd week), in which the three germinal layers arise, and into the embryonic phase proper (from the 4th to 8th week), in which the embryonic organ anlagen arise.

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.

People with Gilbert syndrome have a build-up of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia). In affected individuals, bilirubin levels fluctuate and very rarely increase to levels that cause jaundice. Gilbert syndrome is usually recognized in adolescence. If people with this condition have episodes of hyperbilirubinemia, these episodes are generally mild and typically occur when the body is under stress, for instance because of dehydration, prolonged periods without food (fasting), illness, vigorous exercise, or menstruation. Some people with Gilbert syndrome also experience abdominal discomfort or tiredness. However, approximately 30 percent of people with Gilbert syndrome have no signs or symptoms of the condition and are discovered only when routine blood tests reveal elevated unconjugated bilirubin levels.

Wolff-Parkinson-White (WPW) syndrome is a pre-excitation syndrome characterised by re-entry tachycardia that most commonly presents as a recurrent supraventricular tachycardia. ECG will show a short PR interval and a prolonged QRS complex.

The presenting features with the positive pregnancy test are highly suggestive of gestational diabetes mellitus.Diabetes Insipidus:It is much less common than gestational diabetes mellitus. It is characterised by the inability to concentrate urine, with marked thirst.Presenting symptoms include polydipsia (>3L daily), polyuria, nocturia, nocturnal enuresis.Physical examination may reveal features of dehydration and an enlarged bladder.Investigations include biochemical analysis for electrolytes, urine and plasma osmolality, fluid deprivation test, and cranial MRI.The main differential diagnosis is for diabetes insipidus is psychogenic polydipsia.There are three broad categories of diabetes insipidus (DI): – Central (cranial) DI: It is the most common form of diabetes insipidus.It occurs due to decreased secretion of ADH. It usually occurs due to hypothalamic disease and may show response to low-dose desmopressin.- Peripheral (nephrogenic) DI:It is characterised by the resistance of the kidney to ADH.It usually does not respond to low-dose desmopressin.- Gestational DI:It is rare and is mostly seen in teenage pregnancy.It usually presents in the third trimester and often resolves 4-6 weeks post-partum.

HUS syndrome occurs mostly in children after some days of bloody diarrhoea. Damaged red blood cells also damage the kidney filtering unit and lead to sudden renal failure.

The most appropriate procedure in the surgical management of this child would be to perform an appendicostomy for anterior continence enemas (Malone procedure).Idiopathic constipation leading to faecal incontinence is managed in a stepwise progression, first with laxatives such as movicol, enemas and stronger laxatives and in younger children inter-sphincteric injection of botox may be performed. Following this either anal irrigation or antegrade continence enemas are performed. Appendicostomy for anterior continence enemas allow colonic washouts and thereby rapid achievement of continence.Other options:- Defunctioning Ileostomy: Although an option in extreme cases, an ACE stoma would be more appropriate in this child.- Laparotomy for resection of the megarectum is performed if ACE stoma fails due to megarectum.- Left hemicolectomy is a procedure reserved for slow-transit colons to increase transit time.- Bishop-Koop stoma: It is a procedure of historical significance. It is a way of washing out and managing meconium ileus.