Free UKMLA child health questions with explanations

D. Acute mastoiditis

Acute mastoiditis is a suppurative complication of acute otitis media in which infection extends into the mastoid air cells, producing postauricular swelling, tenderness, obliteration of the retroauricular sulcus and forward/downward displacement of the pinna with systemic upset. Urgent admission, IV antibiotics (typically ceftriaxone), CT of the temporal bones, and cortical mastoidectomy if a subperiosteal abscess is present are recommended.

D. Conjugated (split) bilirubin

Jaundice persisting beyond 14 days in a term baby (21 days if preterm) is prolonged jaundice and needs a split bilirubin to separate the common benign unconjugated causes, such as breast milk jaundice, from cholestasis. Pale stools and dark urine mean conjugated bilirubin is not reaching the gut and is being excreted in urine, so the decisive question is whether the conjugated fraction is raised. If it is, urgent referral to a paediatric liver service is needed because biliary atresia must be diagnosed and treated with a Kasai portoenterostomy ideally before 8 weeks of age, after which the chance of restoring bile flow falls sharply. Ultrasound and further tests follow confirmation of cholestasis; a normal scan does not exclude biliary atresia.

A. Urgent referral to ophthalmology on the suspected cancer pathway

Leukocoria, a white pupillary reflex, and a new squint in an infant are the two commonest presentations of retinoblastoma, and an absent red reflex in a child is referred for ophthalmological assessment on the suspected cancer pathway (NICE NG12). Dilated fundoscopy by an ophthalmologist confirms or excludes a tumour and identifies the other causes of leukocoria such as congenital cataract, Coats disease and retinopathy of prematurity. The diagnosis is made clinically and by ocular ultrasound, and biopsy is never performed because it can seed tumour outside the eye. A squint is treated only once its cause is known; occlusion therapy or routine orthoptics would delay a sight- and life-threatening diagnosis.

B. Intravenous recombinant factor VIII concentrate

A painful swollen joint in a child with severe haemophilia A is a haemarthrosis until proven otherwise, and the treatment is immediate factor VIII replacement, given on clinical suspicion without waiting for imaging; each bleed into a joint damages cartilage, and early replacement limits the arthropathy. Desmopressin raises factor VIII by releasing endothelial stores, which works in mild haemophilia A and type 1 von Willebrand disease but not in severe disease, where there is almost no factor VIII to release. Tranexamic acid stabilises clot and is useful for mucosal bleeding but cannot replace the missing factor. Fresh frozen plasma contains factor VIII at too low a concentration to reach haemostatic levels without volume overload, and platelets are normal in haemophilia.

B. Caffeine citrate

Caffeine citrate is a methylxanthine that stimulates the respiratory centre and treats apnoea of prematurity, and it also shortens the duration of ventilation. Because it reduces exposure to mechanical ventilation, early caffeine reduces the incidence of bronchopulmonary dysplasia and improves neurodevelopmental outcomes, so it is given routinely to very preterm infants. Aminophylline is an older methylxanthine with a narrower therapeutic window and more side effects. Systemic steroids can facilitate extubation in established severe disease but are used cautiously because of adverse effects on neurodevelopment.

C. Hepatitis B immunoglobulin

Infants born to highly infectious hepatitis B-positive mothers require both active immunisation (hepatitis B vaccine starting at birth) and passive immunisation with hepatitis B immunoglobulin, given as soon as possible within 24 hours. This combined active-passive strategy substantially reduces the risk of vertical transmission. The maternal high viral load identifies the babies at highest risk who must receive immunoglobulin.

D. Prader-Willi syndrome

The biphasic course, severe neonatal hypotonia and feeding failure followed by childhood hyperphagia, central obesity, short stature, small hands and feet and hypogonadotrophic hypogonadism, is the classical Prader-Willi phenotype. It results from loss of paternally expressed genes at 15q11-13 (paternal deletion in around 70% of cases, maternal uniparental disomy in most of the remainder), reflecting genomic imprinting at this locus.

B. Lichen sclerosus

Lichen sclerosus has a second incidence peak in prepubertal girls, presenting with itch, dysuria, constipation from painful defecation, and a white atrophic plaque in a figure-of-eight distribution around the vulva and anus. The fragile skin bruises and bleeds easily, producing purpura and fissures that are frequently mistaken for sexual abuse; a symmetrical sclerotic white plaque with an intact hymen points to the dermatosis. Non-specific vulvovaginitis is the commonest cause of vulval symptoms at this age but produces erythema and discharge, not white atrophic skin. Treatment is a potent topical corticosteroid, and many children improve at puberty.

A. Start a macrogol laxative

Bedwetting that returns after a sustained dry period is secondary enuresis, and the assessment looks for a cause: constipation, urinary tract infection, new-onset diabetes, obstructive sleep apnoea, and emotional upset or maltreatment. Infrequent hard stools with straining and soiling indicate chronic constipation with overflow, and a loaded rectum compresses the bladder and provokes detrusor overactivity, so treating the constipation with macrogol disimpaction followed by maintenance often resolves the wetting. Constipation should be treated before any enuresis-specific treatment is started; alarms and desmopressin address the wetting without its cause. A capillary glucose or urinalysis is also reasonable when secondary enuresis comes with thirst, weight loss or dysuria.

E. Intussusception

Intussusception is the correct diagnosis: episodic inconsolable crying (paroxysmal colic from telescoping bowel), vomiting, and redcurrant jelly stools (blood mixed with mucus from mucosal ischaemia) in a 6 to 24 month old is the characteristic presentation; the classic triad is colicky pain, a palpable sausage-shaped mass and redcurrant jelly stool, present together in only a minority of children. It most commonly involves the ileocaecal region and is the leading cause of bowel obstruction in this age group; urgent ultrasound showing a target sign is recommended, followed by air enema reduction.