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

Benign neonatal sleep myoclonus (BNSM) is a disorder commonly mistaken for seizures during the new-born period. It is characterized by myoclonic lightninglike jerks of the extremities that exclusively occur during sleep| it is not correlated with epilepsy.Causes of neonatal seizures:Hypoxic-ischemic encephalopathy: Hypoxic-ischemic encephalopathy disrupts the ATP-dependent sodium-potassium pump and appears to cause excessive depolarization.Intracranial haemorrhage: occurs more frequently in premature than in term infants. Subarachnoid haemorrhage is more common in term infants. This type of haemorrhage occurs frequently and is not clinically significant. Typically, infants with subarachnoid haemorrhage appear remarkably well. Metabolic disturbances include hypoglycaemia, hypocalcaemia, and hypomagnesemia. Less frequent metabolic disorders, such as inborn errors of metabolism, are seen more commonly in infants who are older than 72 hours. Typically, they may be seen after the infant starts feeding.Intracranial infections (which should be ruled out vigorously) that are important causes of neonatal seizures include meningitis, encephalitis (including herpes encephalitis), toxoplasmosis, and cytomegalovirus (CMV) infections. The common bacterial pathogens include Escherichia coli and Streptococcus pneumoniae.Cerebral malformationsBenign neonatal seizures

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

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

Infants exposed to maternal HIV and with positive results require immediate management with co-trimoxazole prophylaxis, regardless of their CD4 levels. Antiretroviral treatment is necessary as well but it could wait until further work-up is complete.

People who are at risk for severe illness and complications from measles, such as infants younger than 12 months of age, pregnant women without evidence of measles immunity, and people with severely compromised immune systems, should receive immunoglobulin. Intramuscular immunoglobulin should be given to all infants younger than 12 months of age who have been exposed to measles. For infants aged 6 through 11 months, MMR vaccine can be given in place of IG, if administered within 72 hours of exposure.

The most likely cause of microcephaly in an asymptomatic 3-year-old child is congenital rubella syndrome.Microcephaly is defined as head circumference > two standard deviations below the mean.The causes of microcephaly include:- Genetic disorders: Down syndrome, Edward syndrome, Patau syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome.- Infective: Meningitis, toxoplasmosis, CMV, rubella, varicella, HIVand Zika.- Acquired causes: Severe brain malformations, neurodegenerative diseases, hypoxic-ischemic injury, infarction, antenatal exposure to drugs, alcohol, and other toxins. Severe malnutrition and uncontrolled phenylketonuria in the mother are other causes of microcephaly in children.- Craniosynostosis- Neurometabolic disorders- Early non-accidental trauma- Fanconi anaemia- Other causes include: Familial and nonfamilial nonsyndromic microcephalyMost children with microcephaly have one or several associated symptoms:- Developmental delay- Seizures- Visual abnormalities- Short stature

Based on the clinical scenario, the patient has features suggestive of acute otitis externa, which can be managed with topic antibiotics.Otitis externa:It can be classified as acute (< 3 weeks) or chronic (> 3 months). Frequent exposure to water, e.g. swimming, is a risk factor for the condition. Itching, pain, hearing loss and discharge are common complaints. Examination demonstrates oedema of the external auditory canal with discharge. Pain may be elicited on the movement of the tragus or pinna. First-line treatment is with topical drops/sprays for one week. Acidic preparations such as 2% acetic acid, antibiotic or combined antibiotic and corticosteroid preparations may be used (1% hydrocortisone and 0.3% gentamicin). Acetic acid can be used as the first-line treatment for mild cases without discharge or hearing impairment. On selecting an appropriate topical preparation remember that topical aminoglycosides are contraindicated if the tympanic membrane is perforated and that chloramphenicol ear drops cause contact dermatitis in approximately 10% of people. Clinoquinol, a combination of antibacterial and antifungal, may be preferred over aminoglycoside containing preparations due to the theoretical lower risk of ototoxicity and dermatitis. However, there is no clear evidence to support the use of one topical preparation over another.Other options:- Admit for IV antibiotics: First line management is with analgesia and topical antibiotic or combined antibiotic and corticosteroid preparations. Thus, IV antibiotics is not an appropriate action.- Oral antibiotics: Oral antibiotics like flucloxacillin or erythromycin are considered only for severe infections such as the spread of cellulitis beyond the ear canal. – Reassurance is not sufficient to treat these patients. They require topic antibiotic therapy.- Referral to ENT: Should be considered only in case of treatment failure. ENT referral can also be considered if there is cellulitis extending past the margin of the external ear canal, extreme pain or extensive swelling and discharge likely to require suction or the insertion of an ear wick. Urgent ENT referral is reserved for suspected cases of malignant otitis externa (with the extension of the condition into the adjacent bone and spreading osteomyelitis).

Exposure to excessive androgens is usually accompanied by premature epiphyseal maturation and closure, resulting in a final adult height that is typically significantly below that expected from parental heights. congenital adrenal hyperplasia (CAH) is associated with precocious puberty caused by long term exposure to androgens, which activate the hypothalamic-pituitary-gonadal axis. Similarly, CAH is associated with hyperpigmentation and hyperreninemia due to sodium loss and hypovolaemia.

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

Puberty is a period of transitioning into adulthood by developing full reproductive potential by undergoing drastic physiological and psychological changes. For boys, it occurs around 9-16 years of age typically. The process of pubertal changes is usually divided into stages called tanner’s stages. The physiologic changes of puberty are initiated by the release of gonadotropin-releasing hormones from the hypothalamus, which then interact with numerous endogenous and environmental stimuli to bring about the physical pubertal features. Tanner stage 2 in boys is characterized by the thinning and reddening of the scrotal skin.The growth spurt of around 9cm per year is expected in boys, at the peak velocity.Testicular enlargement of >3cm commences puberty.Pubarche, in the absence of other secondary sexual characteristics, is pathological.Adrenarche is the increase in the secretion of adrenal androgens, occurring prior to increased gonadotropin release.

The patient history suggests a spontaneous tension pneumothorax which is a life-threatening situation in which excess air is introduced into the pleural space surrounding the lung. When there is a significant amount of air trapped in the pleural cavity, the increasing pressure from this abnormal air causes the lung to shrink and collapse, leading to respiratory distress. This pressure also pushes the mediastinum (including the heart and great vessels) away from its central position, e.g. deviated trachea, and diminishing the cardiac output. Tension pneumothoraxes cause chest pain, extreme shortness of breath, respiratory failure, hypoxia, tachycardia, and hypotension. These are definitively managed by insertion of a chest tube. However, in the emergency setting temporizing measures are needed while chest tube materials are being gathered. In these situations, urgent needle thoracostomy (also called needle decompression) is performed.

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.

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.

Cystic fibrosis is a genetic disease that interferes with the normal development of the child. It manifests with recurrent episodes of pneumonia accompanied by coughing, wheezing and dyspnoea. The appetite is normal but weight gain seems difficult. This condition also affects bowel habits with repeated gastrointestinal infections. The gold standard for the diagnosis is considered the sweat test which reveals abnormally high levels of Cl-.

The antiretroviral agent for the side effects mentioned is most probably, efavirenz.Efavirenz is a non-nucleoside reverse transcriptase inhibitor and the most likely cause of new-onset psychiatric symptoms in someone taking HAART. In this scenario the patient had no pre-existing mental health problems, as other antiretrovirals can cause depression and suicidal ideation in those who have a past psychiatric history. Symptoms usually subside after a few weeks of treatment.Other options:- Emtricitabine is a nucleoside reverse transcriptase inhibitor and is also not known to cause psychiatric side effects. The most common side effects of Emtricitabine are rash and darkening of the palms or soles.- Lamivudine is a nucleoside reverse transcriptase inhibitor, which can cause insomnia, but does not commonly cause other psychiatric symptoms.- Rilpivirine is a non-nucleoside reverse transcriptase inhibitor, which can cause depression. However, this is more common in those with a history of mental health problems.- Tenofovir is a nucleotide reverse transcriptase inhibitor. The most common side effect of Tenofovir is gastrointestinal upset. It is not known to cause psychiatric side effects.

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 swelling and bruising on the mandible needs to be checked for fractures. A facial X-ray can adequately visualize this.

A written protocol is important in clinical research as it helps to decrease bias with early findings as the process of the trial has been documented in advance. To show that the study has been properly undertaken before commencing, the investigators must document their names| they must describe the process, detail the analysis that will be undertaken, and provide a power calculation. The ethics committee does not always need to see the protocol.

Mongolian spots, otherwise called congenital dermal melanocytosis, are pigmented birthmarks. They are usually located on the buttocks or back and although they’re usually present at birth, they may appear soon after. They are flat and have a blue-grey colour (bruise-like). They are benign and present no health risk.

ADH primarily acts on the collecting ducts.Other options:- The juxtaglomerular apparatus is the site of renin production.- The proximal tubule conducts isosmotic reabsorption of about 60% of sodium chloride and volume. Most of the glucose, amino acids, potassium and phosphate are absorbed here.- The loop of Henle is the site of 25% of sodium reabsorption. Active Chloride transport provides the basis for the counter current multiplier aiding urinary concentration.- The distal convoluted tubule is impermeable to water and acts via active sodium chloride absorption to dilute urine.

A 2 year old child who is developing normally should be able to point to three body parts, identify familiar objects in his environment such as a crayon or a toy and follow simple instructions.At 3 years old he should be able to copy a circle, jump up and down and name three colours.

Bernard- Soulier Syndrome results from a deficiency of platelet glycoprotein protein Ib, which mediates the initial interaction of platelets with the subendothelial components via the von Willebrand protein. It is a rare but severe bleeding disorder. Platelets do not aggregate to ristocetin. The platelet count is low, but, characteristically, the platelets are large, often the size of red blood cells, and may be missed on complete blood counts because most automatic counters do not count them as platelets.

The prompt is suggestive of acute appendicitis. The Alvarado score is a clinical scoring system used to determine the likelihood of appendicitis, so this is the correct answer. A score greater than 6 is generally considered at risk for having acute appendicitis. It has 8 different criteria included (symptoms, signs, and lab results) and divides patients into appendicitis unlikely, possible, probable, and definite. The Center Score is a score to access the likelihood that pharyngitis is due to Strep. The Child-Pugh score predicts prognosis in liver cirrhosis. The Glasgow score is two different scores– the Glasgow coma score in trauma, which estimates level of consciousness, essentially, and The Glasgow Imrie Criteria which determines the severity of acute pancreatitis based on 8 lab values. The MELD score predicts the severity of end-stage liver disease.

A preterm with respiratory distress syndrome presents with the condition as a result of immature lungs and inadequate surfactant production. Management of RDS therefore includes surfactant therapy, oxygen administration and mechanical ventilation, as well as measures such maintaining acid base levels and blood haemoglobin in an intensive care unit. Dexamethasone is not shown to be particularly effective when given to a preterm, but can however be used to prevent or decrease RDS severity when given to the mother before delivery.

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

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.

History of fever is suggestive of an infective focus. A straight nasal bones excludes a nasal bone fracture. A nasal septal abscess is defined as a collection of pus between the cartilage or bony septum and it is an uncommon disease which should be suspected in a patient with acute onset of nasal obstruction and recent history of nasal trauma.

These cardiovascular findings are suggestive of coarctation of the aorta, which is common among patients with Turner’s syndrome. Physical features of Turner’s syndrome include a short neck with a webbed appearance, a low hairline at the back of the head, low-set ears, and narrow fingernails and toenails that are turned upward.Atrioventricular septal defect is the most common cardiac anomaly in Down’s syndrome. Structural heart defects at birth (i.e., ventricular septal defect, atrial septal defect, patent ductus arteriosus) are common in Edward’s syndrome. Pulmonary stenosis with or without dysplastic pulmonary valve and hypertrophic cardiomyopathy are common in Noonan’s syndrome. Supravalvar aortic stenosis and peripheral pulmonary stenosis are found in William’s syndrome.

Acoustic neuroma/vestibular schwannoma is a benign slow-growing tumour. The clinical picture of the child suggests neurofibromatosis type 1 (NF1), with cafe-au-lait spots and axillary and inguinal freckling.

Physiological jaundice is the condition in which there is a yellow discolouration of the eyes and the skin of the baby caused by the build up of bilirubin in the blood due to an immature liver. No other symptoms accompany physiological jaundice, thus it will not present with difficulty in feeding. All the other conditions listed can present with feeding problems.

Damage to the left parietal lobe can result in what is called Gerstmann’s Syndrome. It includes right-left confusion, difficulty with writing (agraphia) and difficulty with mathematics (acalculia). It can also produce disorders of language (aphasia) and the inability to perceive objects normally (agnosia).Damage to the right parietal lobe can result in neglecting part of the body or space (contralateral neglect), which can impair many self-care skills such as dressing and washing. Right side damage can also cause difficulty in making things (constructional apraxia), denial of deficits (anosognosia) and drawing ability.Bi-lateral damage (large lesions to both sides) can cause Balint’s Syndrome, a visual attention and motor syndrome. This is characterized by the inability to voluntarily control the gaze (ocular apraxia), inability to integrate components of a visual scene (simultanagnosia), and the inability to accurately reach for an object with visual guidance (optic ataxia)Special deficits (primarily to memory and personality) can occur if there is damage to the area between the parietal and temporal lobes.Left parietal-temporal lesions can affect verbal memory and the ability to recall strings of digits. The right parietal-temporal lobe is concerned with non-verbal memory.Right parietal-temporal lesions can produce significant changes in personality.

Factors V and VIII are consumed most rapidly in a patient with disseminated intravascular coagulation.Simultaneous coagulation and haemorrhage caused by initially formation of thrombi which consume clotting factors (factors 5,8) and platelets, ultimately leading to bleeding.Causes include:- Infection- Malignancy- Trauma e.g. major surgery, burns, shock, dissecting aortic aneurysm- Liver disease- Obstetric complicationsClinically bleeding is usually a dominant feature, bruising, ischaemia and organ failure.Blood tests reveal prolonged clotting times, thrombocytopenia, decreased fibrinogen and increased fibrinogen degradation products.Treatment of DIC involves treating the underlying cause and supportive management.Mnemonic:D-I-S-S-E-M-I-N-A-T-E-DD- D dimerI-Immune complexesS-Snakebite, shock, heatstrokeS-SLEE-Eclampsia, HELLP syndromeM-Massive tissue damageI-Infections: viral and bacterialN-NeoplasmsA-Acute promyelocytic leukaemiaT-Tumour products: Tissue Factor (TF) and TF-like factors released by carcinomas of pancreas, prostate, lung,colon, stomachE-Endotoxins (bacterial)D-Dead foetus (retained)

Orbital bone fracture: The child has sustained a head injury and subsequently describes a CSF rhinorrhoea (indicating a cerebro-spinal fluid leak). CSF rhinorrhoea can occur in skull or nasal bone fractures. Given the symptoms of loss of consciousness and headache, this child is more at risk of having suffered a skull fracture requiring emergency CT head investigation and specialist neurosurgical management. An ethmoid bone fracture may also present this way. A skull x ray would help to determine an air fluid level and indeed allow some visualisation of the nasal bones, though in children the nasal bones do not visualise well due to lack of fusion. Either way this child would need assessment in the nearest Emergency Department and the school would be expected to follow a ‘head injury’ protocol.

Capillary haemangiomas (strawberry naevi) are very common benign tumours that may appear in infancy. This particular case requires a close follow-up to monitor the naevus’ size and make sure it doesn’t expand or gets bigger, affecting the baby’s visual field.It is more common in preterm babies and girls are 3x more commonly affected than boys. It presents at birth in 30%, and is a focal and solitary in 80% of cases, most commonly found on the head and neck (60%), followed by the trunk (25%) and extremities (15%).

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

Injuries to the peroneal nerve can cause numbness, tingling, pain, weakness and foot drop. The branches of the common peroneal nerve innervate and control the muscles in the legs that lift the ankle and toes upward (dorsi flexion).

The boy seems to have a varicocele so the most appropriate next step would be reassurance. A varicocele is an enlargement of the veins within the scrotum called the pampiniform plexus. A varicocele only occurs in the scrotum and is very similar to varicose veins that can occur in the leg. Because a varicocele usually causes no symptoms, it often requires no treatment.

Increasing the volume of the TV and the child’s loss of hearing may suggest that he has otitis media with effusion but the fever and the ear pain and fever strongly points to otitis externa as the diagnosis.

At the age of 6 months, children can begin to be weaned off breastmilk and formula feeds. One healthy and inexpensive way to do this is through infant led weaning as opposed to the conventional spoon feeding method. Children are able to enjoy a variety of soft finger foods even before they grow teeth, so all food does not need to be pureed or sweet. Children should however not be given cow’s milk until the age of 1 year.