2006 Paper B Flashcards
A previously well 13-year-old boy presents for investigation of persistent lip swelling and bleeding gums for the past four months. For about 12 months he has experienced colicky abdominal pains after eating. He has had no vomiting or diarrhoea but complains of pain on defaecation, with some bright red blood on the toilet paper. He has lost 3 kg in weight over the past six months. On examination he looks pale and has marked gingivitis and swollen upper and lower lips. His abdomen is soft, without palpable organomegaly, but with mild tenderness and fullness in the right iliac fossa. He has a perianal skin tag. What is the most likely diagnosis?
A. Chronic granulomatous disease.
B. Crohn’s disease.
C. Gastrointestinal tuberculosis.
D. Sarcoidosis.
E. Systemic lupus erythematosus.
B. Crohn’s disease.
An eight-month-old girl starts to wake repeatedly at night after settling well to sleep. She is breastfed to settle once she wakes. This has been occurring for three weeks despite her having slept through from six-months of age. Her growth and development are normal. She eats a variety of solids and is breastfed five to six times during the day.
Which of the following is the most likely explanation for her behaviour?
A. Diminishing breast milk production.
B. Food allergy.
C. Gastroesophageal reflux.
D. Inappropriate sleep association.
E. Nightmares.
D. Inappropriate sleep association.
When counselling parents of a child born with tetralogy of Fallot, you are asked what the risk is of having an infant with any form of congenital heart disease in future pregnancies.
The risk of recurrence in this family is closest to:
A. 0.5%.
B. 2.5%.
C. 5%.
D. 12.5%.
E. 25%.
B. 2.5%.
A 21-month-old girl presents, with her siblings, with a viral upper respiratory tract infection. Her facial features are noted to be different from her siblings and this has been present since birth. A photograph is shown (the patient is seated in the middle). She has no history of feeding or breathing difficulties as an infant. On examination her eye movements are normal with normal pupillary responses. Her smile is equal and symmetrical.
What is the most likely diagnosis?
A. Bilateral facial nerve (VII) palsy.
B. Bilateral oculomotor (III) nerve palsy.
C. Congenital myasthenia gravis.
D. Congenital ptosis.
E. Möbius syndrome.
D. Congenital ptosis.
Congenital Ptosis
Congenital ptosis is most often associated with absence or reduction of striated levator palpebrae superioris muscle. Müller’s muscle remains relatively intact.
Congenital ptosis is usually unilateral (in 69 to 75 percent), neurologically isolated, and nonprogressive. There can be a familial association, but it may be unrecognized if family members are only mildly affected. Levator function (LF) varies in proportion to the degree of ptosis. Lid creases are often absent or lower than normal. Other ophthalmologic findings may include amblyopia and strabismus in 20 to 30 percent.
Bilateral Facial Nerve Palsy
Extremely rare. Congenital cause is usually Mobius syndrome. Unilateral due to birth injury more common.
Bilateral Oculomotor nerve palsy
The third cranial nerve supplies the levator muscle of the eyelid and four extraocular muscles: the medial rectus, superior rectus, inferior rectus, and inferior oblique. The superior oblique muscle is innervated by cranial nerve IV and the lateral rectus muscle by cranial nerve VI. In addition, the third cranial nerve constricts the pupil through its parasympathetic fibers that supply the smooth muscle of the ciliary body and the sphincter of the iris. Children with congenital third nerve palsies may not complain of diplopia because they ignore or suppress the second image or because they have superimposed amblyopia; often they are brought to medical attention by their parents, who have noticed ptosis or strabismus.
Congenital Myasthenia Gravis
Newborns with congenital myasthenia frequently have ptosis, in contrast to patients with the transient disorder. In addition, they typically demonstrate ophthalmoplegia and bulbar and respiratory muscle weakness. Affected infants may have fluctuating generalized hypotonia and weakness and life-threatening episodes of apnea. Arthrogryposis may be present at birth
Mobius syndrome - The distinctive features of Möbius syndrome are congenital facial paresis and abduction weakness. The facial palsy is commonly bilateral, often asymmetric, and often incomplete, tending to spare the lower face and platysma. Ectropion, epiphora, and exposure keratopathy can develop. The abduction defect may be unilateral or bilateral. Esotropia is common.
In the treatment of moderate depression in adolescents, which of the following has the best evidence of efficacy?
A. Cognitive behavioural therapy.
B. Family therapy.
C. Fluoxetine.
D. Imipramine.
E. Interpersonal psychotherapy.
A. Cognitive behavioural therapy.
A four-year-old girl is seen in diabetes clinic. It is four months since she was diagnosed with type 1 (insulin-dependent) diabetes mellitus and coeliac disease. Her parents report marked behavioural problems and temper tantrums, associated with diabetes treatment and dietary restrictions. On examination extensive hairloss is noted as shown in the photograph above.
What is the most likely diagnosis?
A. Alopecia areata.
B. Telogen effluvium.
C. Tinea capitis.
D. Traction alopecia.
E. Trichotillomania.
A. Alopecia areata.
A 13-month-old male infant is admitted to hospital with acute gastroenteritis and dehydration. Investigations included full blood count, electrolytes and liver function tests. All are normal apart from a raised alkaline phosphatase of 1350 U/L [30-300]. An X-ray of the knee was normal. The most likely diagnosis is:
A. Alagille syndrome.
B. cystic fibrosis.
C. osteogenesis imperfecta.
D. transient hyperphosphatasaemia.
E. vitamin D resistant rickets.
D. transient hyperphosphatasaemia.
Transient hyperphosphatasemia (TH) of infancy and early childhood is characterized by a marked elevation of serum alkaline phosphatase in the absence of detectable liver or bone disease, and a return to normal levels within weeks or months. The condition is thought to be benign; thus, this disorder is also called benign transient hyperphosphatasemia.
A mutation at the 5’ end of an intron may interfere with splicing and be pathogenic. Which statement best summarises the consequence of such a mutation?
A. The abnormal intron blocks transcription.
B. The abnormal intron interferes with post-translational processing.
C. The abnormal intron is included in the mRNA strand.
D. The adjacent exon is duplicated.
E. The adjacent exon is not included in the mRNA strand.
C. The abnormal intron is included in the mRNA strand.
Mutation on terminal end, therefore continues to translate and is included in mRNA strand.
Synthesis of RNA exhibits several features that are synonymous with DNA replication. RNA synthesis requires accurate and efficient initiation, elongation proceeds in the 5’—>3’ direction (i.e. the polymerase moves along the template strand of DNA in the 3’—>5’ direction), and RNA synthesis requires distinct and accurate termination. Transcription exhibits several features that are distinct from replication.An exon is a nucleic acid sequence that is represented in the mature form of an RNA molecule either after portions of a precursor RNA (introns) have been removed by cis-splicing or when two or more precursor RNA molecules have been ligated by trans-splicing. The mature RNA molecule can be a messenger RNA or a functional form of a non-coding RNA such as rRNA or tRNA. Depending on the context, exon can refer to the sequence in the DNA or its RNA transcript.In molecular biology and genetics, splicing is a modification of an RNA after transcription, in which introns are removed and exons are joined.
A full-term neonate is born following a pregnancy complicated by polyhydramnios. The baby was hydropic, and died at six hours of age. Which one of the following is least likely to have caused this?
A. Alpha-thalassaemia.
B. Beta-thalassaemia.
C. Blackfan-Diamond anaemia.
D. Fetal parvovirus B19 infection.
E. Rh disease of the newborn.
B. Beta-thalassaemia.
The diagnosis of neurofibromatosis type 1 (NF-1) is made in a seven-year-old boy. He is developmentally normal. Of the following, which complication of NF-1 is he most likely to develop during childhood or adolescence?
A. Hypertension.
B. Malignant transformation of a neurofibroma.
C. Scoliosis.
D. Seizures.
E. Sensorineural deafness.
C. Scoliosis.
The typical order of appearance of clinical manifestations is café-au-lait macules, axillary and/or inguinal freckling, Lisch nodules (iris hamartomas), and neurofibromas. Osseous lesions, if present, usually appear during the patient’s first year after birth, and symptomatic optic pathway glioma (OPG) usually occurs by the time the patient is three years of age . Other tumors and neurologic complications typically begin to appear after the first year of life, and hypertension and malignant transformation of tumors may occur in adolescence and adulthood. Scoliosis is a common complication found in about 10% of the patients.
A clinically well child with the dysmorphic features shown in the photograph below presents with a loud ejection systolic murmur.
Which of the following is the most likely diagnosis?
A. Alagille syndrome.
B. Congenital rubella syndrome.
C. Noonan syndrome.
D. Velocardiofacialsyndrome.
E. Williams syndrome.
A. Alagille syndrome.
A six-year-old Sudanese male presents to emergency appearing toxic with a temperature of 39.4oC. He has a three-day history of fevers and a 24-hour history of left elbow pain and swelling. Blood tests at this time are as follows:
A photomicrograph of the blood film is shown above. Which of the following organisms is most likely to cause this clinical presentation?
A. Escherichia coli.
B. Haemophilus influenzae.
C. Salmonella enteritidis.
D. Staphylococcus epidermidis.
E. Yersinia enterocolitica.
C. Salmonella enteritidis
As HbS replaces HbF in the early months of life, problems associated with sickling and red cell membrane damage begin. The resulting rigid cells progressively obstruct and damage the spleen, which leads to functional asplenia. This, along with other abnormalities, results in extreme susceptibility to infection.
Organisms that pose the greatest danger include encapsulated respiratory bacteria, particularly Streptococcus pneumoniae. The mortality rate of such infections has been reported to be as high as 10-30%. Consider osteomyelitis when dealing with a combination of persistent pain and fever. Bone that is involved with infarct-related vaso-occlusive pain is prone to infection. Staphylococcus and Salmonella are the 2 most likely organisms responsible for osteomyelitis.
During adult life, infections with gram-negative organisms, especially Salmonella, predominate. Of special concern is the frequent occurrence of Salmonella osteomyelitis in areas of bone weakened by infarction.
A 12-year-old boy with a past history of allogeneic bone marrow transplantation (BMT) for severe aplastic anaemia is on cyclosporin and prednisone for active extensive chronic graft-vs-host disease (GVHD). He presents to emergency with a high fever. The following investigations were performed: His blood film shows Howell-Jolly bodies. Which one of the following organisms is most likely responsible for his clinical presentation?
A. Escherichia coli.
B. Pseudomonas aeruginosa.
C. Staphylococcus aureus.
D. Streptococcus pneumoniae.
E. Streptococcus viridans.
D. Streptococcus pneumoniae.
A previously well two-year-old boy accidentally ingests a large dose of ibuprofen, estimated to be 6-8 times the recommended dose. Emergency decontamination of his stomach is carried out in the Emergency department. Two hours after ingestion, his serum creatinine is 0.05mmol/l [0.03-0.07]. What is the next most appropriate next step?
A. Check serum creatinine in 6-8 hours.
B. Forced alkaline diuresis.
C. High dose prednisolone.
D. Prostaglandin agonist.
E. Urgent urinalysis.
A. Check serum creatinine in 6-8 hours.
In the pedigree shown below, the individual indicated by a solid symbol is affected by an autosomal recessive disorder. No other family members are affected. Which of the marked individuals is least likely to be a carrier of this disorder?
A. A.
B. B.
C. C.
D. D.
E. E
D. D.
Neuroadaptation (tolerance) syndrome is the phenomenon of loss of treatment response generally after months of a clear and definite response to medication. With which of the following medications is this most likely to occur in children?
A. Carbamazepine.
B. Clonazepam.
C. Fluoxetine.
D. Methylphenidate.
E. Sodium valproate.
B. Clonazepam.
Tolerance to the depressant effects of benzodiazepines is rapid, but tolerance to the anxiolytic effects develops slowly and to a limited extent.
A two-year-old boy presents with a history of constipation for several months and recent ataxia. He is otherwise well. On examination he is ataxic without other neurological signs. He has a non-tender (right) upper abdominal mass. Computed tomography (CT) scans of his head and abdomen are shown below. Which one of the following diagnoses is most likely?
A. Alveolar rhabdomyosarcoma.
B. Desmoplastic round cell tumour of the abdomen.
C. Ewing sarcoma.
D. Neuroblastoma.
E. Wilms tumour.
D. Neuroblastoma.
Mets: sites: long bones and skull, bone marrow, liver, lymph nodes, skin
An otherwise normal six-year-old boy is diagnosed with moderate sensorineural hearing loss. There is no significant family history. The most likely cause of his hearing loss is:
A. congenital cytomegalovirus.
B. congenital rubella.
C. Connexin 26 mutation.
D. Pendred syndrome.
E. Usher syndrome.
C. Connexin 26 mutation.
Connexin 26 mutation
Mutations of the connexin-26 and -30 genes have been identified in autosomal recessive (DNFB 1) and autosomal dominant (DNFA 3) SNHL and in sporadic patients with nonsyndromic SNHL; up to 50% of nonsyndromic SNHL may be related to a mutation of connexin-26.
Congenital Cytomegalovirus
The most common infectious cause of congenital SNHL is cytomegalovirus (CMV), which infects 1/100 newborns in the USA. Of these, 6,000-8,000 infants each year have clinical manifestations, including approximately 75% with SNHL. Congenital CMV warrants special attention because it is associated with hearing loss in its symptomatic and asymptomatic forms, and the hearing loss may be progressive. Some children with congenital CMV have suddenly lost residual hearing at 4-5 yr of age.
Congenital Rubella
Rubella, once the most common viral cause of congenital SNHL, is very uncommon because of effective vaccination programs.
Pendred and Usher Syndromes
Autosomal recessive genetic SNHL, both syndromic and nonsyndromic, accounts for about 80% of all childhood cases of SNHL. Usher syndrome (types 1, 2, and 3), Pendred syndrome, and the Jervell and Lange-Nielsen syndrome (one form of the long Q-T syndrome) are 3 of the most common syndromic recessive types of SNHL. Usher Syndrome also involves retinitis pigmentosa and impaired vestibular function. Pendred Syndrome involves SNHL and goitre.
A five-year-old boy is referred to the haematology clinic with a history of easy bruising and excessive bleeding from mild trauma. The following investigations were undertaken: The most likely diagnosis is:
A. Factor VII deficiency.
B. Glanzmann’s syndrome.
C. Haemophilia A.
D. Haemophilia B.
E. von Willebrand Disease.
E. von Willebrand Disease.
Mild anaemia
APTT prolonged, normal when mixed
Decreased vWF
CBA is other activity marker for vWF
A seven-year-old boy presents with moderate proteinuria and macroscopic haematuria associated with a sore throat and fever. His renal function, C3, C4 and renal ultrasound are normal. Microscopic haematuria persists and he continues to have intermittent macroscopic haematuria with intercurrent infections. His mother also has microscopic haematuria. His maternal grandfather died of renal failure. The electron microscopy of his renal biopsy shows variable thickness of the glomerular basement membrane and is shown below. The most likely diagnosis in this boy is:
A. Alport syndrome.
B. benign familial haematuria.
C. IgA nephropathy.
D. mesangiocapillary glomerulonephritis.
E. post-infectious glomerulonephritis.
A. Alport syndrome.
Alport syndrome
- hereditary nephritis, caused by mutations in genes coding for type IV collagen (major component of basement membranes)
Genetics
- 85% X-linked disease
- autosomal recessive 10%, autosomal dominant 5%
Pathology
- histo: >1st decade mesangial proliferation, capillary wall thickening progressive glomerular sclerosis
- tubular atrophy, interstitial inflammation and fibrosis and lipid-containing tubular or interstitial cells (foam cells) develop as progresses
- electron micro – diffuse thickening, thinning, splitting and layering of glomerular and tubular BMs
Clinical manifestations
- all have asymptomatic microscopic haematuria
- can be intermittent in girls and younger boys
- 50% get gross haematuria 1-2d after URTI
- boys – proteinuria, progressive to >1g/24hrs by 2nd decade, can cause nephritic syndrome
- bilateral sensorineural hearing loss (NOT congenital) in 90% of hemizygous males with X-linked AS, 10% heterozygous females with X-linked AS and 67% of autosomal recessive AS
- begins in high frequency range progresses to involve speech
- ocular abns in 30-40% - anterior lenticonus, macular flecks and corneal erosions
- leiomyomatosis of esophagus, tracheobronchial tree and female genitals in assoc with platelet abns rare
Thin basement membrane disease – lesser degree than Alport
- defined by presence of persistent microscopic haematuria and isolated thinning of GBM (and occ tubular BM) on electron microscopy
- can be intermittent microhaematuria
- can be gross haematuria esp after URTI
- isolated haematuria in family members without renal dysfx = benign familial haematuria
- can be sporadic or autosomal dominant – mutations in type IV collagen present in GBM (homozygous mutations cause autosomal recessive Alport)
- rarely progresses to proteinuria, HTN or renal insufficiency
- need to monitor for progressive proteinuria, HTN or renal insufficiency
A four-year-old boy is brought to the emergency department with a one day history of fever, vomiting and lethargy. His parents are concerned that he is pale and that his eyes look yellow. On examination his temperature is 37.5°C, heart rate is 110/minute, blood pressure 90/60 mmHg and respiratory rate is 25/minute. He is pale and quiet, but responsive, with mildly icteric sclera. His examination is otherwise unremarkable with no evidence of hepatosplenomegaly. A urinalysis is performed and is positive for blood. His blood test results are displayed below. Which of the following diagnoses is most likely?
A. Cold antibody autoimmune haemolytic anaemia.
B. Glucose-6-phosphate dehydrogenase deficiency.
C. Hereditary spherocytosis.
D. Paroxysmal nocturnal haemoglobinuria.
E. Warm antibody autoimmune haemolytic anaemia.
B. Glucose-6-phosphate dehydrogenase deficiency.
DATs indicate autoimmune haemolytic anaemia including drug-induced
A ten-year-old boy presents after a hypoglycaemic fit preceded by 24 hours of vomiting. He has a past medical history of asthma with no recent exacerbations or significant interval symptoms. He is on a Seretide Accuhaler (500 micrograms of fluticasone and 50 micrograms salmeterol), one inhalation twice daily. His physical examination is unremarkable. Which investigation is most likely to confirm the cause of his hypoglycaemia?
A. Adrenal antibodies.
B. Adrenocorticotrophic Hormone (ACTH) level.
C. Random cortisol level.
D. Stimulated cortisol level.
E. Very long chain fatty acid levels.
D. Stimulated cortisol level.
A previously well eight-year-old boy presents to the emergency department with two days of persistent vomiting and several loose bowel motions. He has had no urine output for at least 12 hours. Examination shows that he is mildly dehydrated but his vital signs are normal for age. He is given a bolus of 500mL of 0.9% saline intravenously and discharged home with advice to visit the family doctor the next day. He represents five hours later with persistent vomiting and increasing lethargy. He passes 20ml of dark urine. Initial tests show the following:
Urinalysis shows 3+ Blood, 3+protein
The most likely diagnosis is:
A. acute dehydration.
B. acute glomerulonephritis.
C. acute interstitial nephritis.
D. acute tubular necrosis.
E. nephrotic syndrome.
D. acute tubular necrosis.
ARF, anaemia, haematuria and proteinuria – no thrombocytopaenia
A ten-year-old boy is investigated for excessive day time sleepiness. He sleeps 11 hours per night and snores most nights. He wakes frequently at night and calls out to his mother. He describes periods of being not being able to move in bed as though he is paralysed. He occasionally falls to the ground when laughing. The most likely diagnosis is:
A. atonic epilepsy.
B. narcolepsy.
C. nocturnal epilepsy.
D. obstructive sleep apnoea.
E. parasomnia.
B. narcolepsy.
Narcolepsy
Narcolepsy is characterized by excessive daytime sleepiness, cataplexy (sudden loss of tone), sleep paralysis, hypnogogic hallucinations, and disturbed nighttime sleep. Loss of tone occurs in response to strong emotions, and spreads from the face downwards. Consciousness is maintained in cataplexy. Diagnosis is based on the multiple sleep latency test, and therapy relies on scheduled naps, amphetamines, methylphenidate, tricyclic antidepressants, and counseling about precautions in work and driving.
Atonic Epilepsy
Atonic seizures are characterized by flaccidity or lack of movement during a convulsion. Atonic seizures, are usually longer and the loss of tone often develops more slowly. Sometimes it is difficult to distinguish among tonic, myoclonic, atonic, or astatic seizures based on the history alone when the family reports only that the patient “falls”; in such cases, the seizure may be described as a drop attack. A mechanistically similar seizure can involve the tone of only the head and neck; this seizure morphology is referred to as a head drop. Tonic, clonic, myoclonic, and atonic seizures can be focal (including one limb or one side only), focal with secondary generalization, or primary generalized.
Nocturnal Epilepsy
Benign childhood epilepsy with centrotemporal spikes (BECTS) which typically starts during childhood and is outgrown in adolescence. The child typically wakes up at night owing to a simple partial seizure causing buccal and throat tingling and tonic or clonic contractions of one side of the face, with drooling and inability to speak but with preserved consciousness and comprehension. Complex partial and secondary generalized seizures can also occur. EEG shows typical broad-based centrotemporal spikes that are markedly increased in frequency during drowsiness and sleep. MRI is normal. Patients respond very well to AEDs such as carbamazepine. In some patients who only have rare and mild seizures treatment might not be needed
A three-and-a-half-year-old boy is referred because his parents are concerned about his poor social skills. He prefers to be alone. He can be quite insistent on routines and is easily upset if he does not get his way. Some of his tantrums last up to half an hour. He is interested in mechanical things such as DVD, tape recorder etc. His attentional skills are not good, however he has recently developed some good imaginative play. He has good expressive and receptive language skills. He has no repetitive behaviours or unusual body movement and no fascinations or obsessions.
He is an only child. His father tends to be obsessive and anxious, and his mother was very shy when she was small. A first cousin has autism.
He is very wary of you initially, but after some time begins to respond to your requests and follows some single and two stages commands. He is quiet with poor eye contact, but has some reasonably communicative facial expressions and gestures. A single five word sentence is heard. Physically examination is normal. His weight and height are both on the 10th percentile for age, head circumference 50th percentile. Before leaving he brings a toy car out of his pocket to show you. What is the most likely diagnosis?
A. Asperger syndrome.
B. Attention deficit hyperactivity disorder.
C. Autism.
D. Fragile X syndrome.
E. Normal child.
E. Normal child.
A ten-year-old boy presents with facial swelling, hypertension, proteinuria and haematuria. Complement levels are 0.7 mg/dL [0.8-1.8]; antistreptolysin-O titre (ASOT) and anti-DNase are positive. He is excreting 500 mg of urinary protein in 24 hours [<200]. Anti-nuclear antibodies are negative, and he has no other symptoms or signs suggesting autoimmune phenomena. After initial treatment with fluid restriction, diet and antihypertensives, his urinary sediment improves, and blood pressure returns to normal. At two months he is reassessed.
Which of the following would most strongly indicate the need for renal biopsy?
A. Creatinine of 0.10 mmol/L [0.05 – 0.10].
B. Haematuria.
C. Hypertension.
D. Hypocomplementaemia.
E. Proteinuria of > 200 mg/24 hours.
D. Hypocomplementaemia.
A four-year-old girl presents with a two to three day history of increasing lethargy and pallor following a recent febrile illness associated with cough. Parents report her urine appeared dark that morning. On examination she is clinically jaundiced and tachycardic but well perfused and has mild splenomegaly. The following investigations were obtained: A photomicrograph of the blood film is shown above. Which is the most appropriate next step in her management?
A. Haemodialyse.
B. Intravenous gammaglobulin.
C. Intravenous methylprednisolone.
D. Transfuse packed red cells.
E. Warm the child.
E. Warm the child.
Haemoglobinuria, anaemia, LDH high (haemolytic anaemia), retics up, AST up
Paroxysmal cold haemoglobinuria
- form of haemolytic anaemia mediated by Donath-Landsteiner haemolysin (IgG cold-reactive autoantibody with anti-P specificity) – fixes large amounts of complement in the cold and RBCs lyse as temperature is increased
- usu assoc with nonspecific viral infections
- up to 30% of immune haemolytic episodes among children
- treatment – transfusion for severe anaemia and avoidance of cold ambient temps
A nine-month-old girl is referred by her general practitioner because of recurrent events occurring on a daily basis over the last two weeks. The episodes are stereotyped and consist of her stopping what she is doing, flexing at her trunk, and pressing her hands above her inguinal region. There is associated tremulousness and jaw rigidity. The events last one to two minutes with her becoming red in the face and grunting. She seems to be preoccupied and gets distressed if touched or moved. After the event, the child goes to sleep. The events never occur in sleep. The most likely diagnosis is:
A. dystonia.
B. frontal lobe seizures.
C. gastroesophageal reflux.
D. infantile masturbation.
E. urinary infection.
D. infantile masturbation.
Infantile Masturbation
Very common in childhood. Peak at approx 4 years. In infancy and early childhood, usually practiced by rubbing thighs together, rhythmic body movement and pelvic thrusts. Child may appear to be in a trance with a flushed face, glassy stare and audible breathing. If orgasm occurs, may be followed by general relaxation, pallor and sweating. Child may appear exhausted and fall asleep. (Childhood Masturbation. Clinical Paediatrics, 1993).
Dystonia
Dystonia is a movement disorder characterized by involuntary, sustained muscle contractions that result in twisting and repetitive movements or abnormal postures. The clinical features of dystonia vary according to anatomic location, age of onset, and etiology. Early onset dystonia usually begins in a leg, often as intorsion of the foot. Spread from one leg to other body areas occurs in approximately 50 to 90 percent of children, usually within five years of onset. Late onset primary focal dystonia may involve different body areas.
Frontal Lobe Seizures
Frontal lobe seizures often occur at night and can be very numerous and brief (<30s). Features may include: hypermotor behaviours, bicycling automatisms as well as pelvic thrusting and other sexual automatisms. Tonic posturing and head and eye deviation (version), usually contralateral to the side of the seizure focus, can occur in some patients. Vocalizations are also very common.
Gastroesophageal Reflux
GER is common in infants and usually is not pathological. Regurgitation is present in 50 to 70 percent of all infants, peaks at age four months, and typically resolves by one year. A small minority of infants with GER develop other symptoms suggestive of GERD, including feeding refusal, irritability, hematemesis, anemia, respiratory symptoms, and failure to thrive.
Urinary Infection
In a meta-analysis of the diagnostic accuracy of the symptoms and signs of UTI in children younger than two years, the following symptoms and signs were the most helpful in identifying children with UTI:
- History of UTI (likelihood ratio [LR] 2.3)
- Temperature >40ºC (LR 3.2)
- Suprapubic tenderness (summary LR 4.4)
- Lack of circumcision (summary LR 2.8)
Up to Date, Nelsons
A four-year-old boy is reviewed in clinic because of a flare-up of his atopic eczema. He has not responded to his usual emollients and topical steroids. On examination his temperature is 37°C. He is irritable, and has extensive whole-body eczema with excoriation and crusting. The lesions around his mouth are shown above. The most appropriate treatment is:
A. aciclovir.
B. flucloxacillin.
C. more potent topical steroid.
D. mupirocin ointment.
E. pimecrolimus cream.
B. flucloxacillin.
Following curative therapy, which one of the following primary malignancies is most likely associated with a future second malignant neoplasm?
A. Acute lymphoblastic leukaemia.
B. Hodgkin lymphoma.
C. Medulloblastoma.
D. Sporadic retinoblastoma.
E. Wilms tumour.
B. Hodgkin lymphoma.
An eight-year-old boy is referred to you with tiredness and short stature. He has a long history of thirst and nocturia. There is no family history of note. On examination he is short compared with his five- year-old sister. Apart from obvious pallor, there are no other abnormal physical features.
What is the most likely diagnosis?
A. Familial juvenile nephronophthisis.
B. Medullary cystic disease.
C. Polycystic kidney disease.
D. Reflux nephropathy.
E. Renal Fanconi syndrome.
A. Familial juvenile nephronophthisis.
Renal insufficiency, anaemia
In juvenile nephronophthisis (the most common form), the first symptoms usually develop around age 5 years and consist of polyuria and polydipsia. These symptoms are related to a reduced urinary concentrating capacity and loss of sodium conservation and occur early in the course of the disease, well before a reduction in glomerular filtration rate. Typically, the urine osmolarity is less than 400 mosm/kg in the first morning sample.
Children exhibit decreased growth velocity, initially related to chronic dehydration and subsequently confounded by renal insufficiency.
Features that distinguish nephronophthisis from medullary cystic kidney disease (MCKD) include the following:
The inheritance pattern is autosomal recessive.
The median age of onset of end-stage renal disease (ESRD) is 13 years in juvenile nephronophthisis, 1-3 years in infantile nephronophthisis, and 19 years in adolescent nephronophthisis.
Pallor is another characteristic finding.
In contrast to other renal diseases in which the degree of anemia depends on the stage of renal insufficiency, in nephronophthisis, the severity of the anemia exceeds the degree of renal insufficiency.
Anemia may occur before renal insufficiency develops.
This normocytic and normochromic anemia is more severe than that of other chronic renal diseases and does not result from iron deficiency or hemolysis.
Which one of the following medications is most likely to cause foetal abnormalities if taken in the first trimester of pregnancy?
A. Enalapril.
B. Gentamicin.
C. Ibuprofen.
D. Tetracycline.
E. Warfarin.
E. Warfarin.
- Enalapril - Contraindicated. Use in first trimester may cause major congenital malformations; use in second and third trimester may cause fetal renal dysfunction and oligohydramnios, and subsequently fetal death; Australian category D.
- Gentamicin - Reserve for severe or life-threatening infections for which safer drugs are inappropriate. Seek specialist advice for dosing. Australian category D.
- NSAIDs - Two studies link NSAID use during pregnancy with an increased rate of miscarriage. Risk appears highest when NSAIDs are taken around the time of conception. When given during the latter part of pregnancy, NSAIDs may cause closure of the fetal ductus arteriosus, fetal renal impairment, decrease in volume of amniotic fluid, inhibition of platelet aggregation and may delay labour and birth. Seek specialist advice for use in the second half of pregnancy; avoid use during the last few days before expected birth; Australian category C.
- Tetracyclines - Safe if used during the first 18 weeks of pregnancy (16 weeks post-conception); after this they are contraindicated as they may discolour the baby’s teeth; Australian category D.
- Warfarin - Avoid use except perhaps in women with prosthetic heart valves; risk of teratogenicity and of fetal or placental haemorrhage; Australian category D.
A nine-year-old girl with systemic lupus erythematosus (SLE) presents with a painless, erythematous, blistering rash on her chest, as shown. She is afebrile. She is currently on prednisone, and has recently been given pulse cyclophosphamide. The most appropriate initial treatment would be:
A. intravenous aciclovir.
B. intravenous flucloxacillin.
C. oral aciclovir.
D. oralflucloxacillin.
E. withhold immunosuppressants.
A. intravenous aciclovir.
In children with reading disability (developmental dyslexia) the underlying neurocognitive deficit most commonly occurs in:
A. attention.
B. auditory processing.
C. phonemic awareness.
D. saccadic visual tracking.
E. sensorimotor perception.
C. phonemic awareness.
A nine-month-old child is reviewed because of concerns about the appearance of his face. He suffered birth trauma related to shoulder dystocia. A brachial plexus injury was identified at birth. What level of the brachial plexus has been injured to explain the facial findings?
A. C5.
B. C6.
C. C7.
D. C8.
E. T1.
E. T1.
Klumpke paralysis is a rare form of brachial palsy, in which injury to the 7th and 8th cervical nerves and the 1st thoracic nerve produces a paralyzed hand and ipsilateral ptosis and miosis (Horner syndrome) if the sympathetic fibers of the 1st thoracic root are also injured. Mild cases may not be detected immediately after birth. Differentiation must be made from cerebral injury; from fracture, dislocation, or epiphyseal separation of the humerus; and from fracture of the clavicle. MRI demonstrates nerve root rupture or avulsion.
What is the prefered pharmacological treatment for attention deficit hyperactivity disorder in children with comorbid intellectual disability?
A. Clonidine.
B. Fluoxetine.
C. Haloperidol.
D. Methylplenidate.
E. Risperidone.
D. Methylplenidate.
A two-year-old child is referred for assessment of a murmur. Examination reveals a mid-diastolic murmur without a systolic component. No systolic murmur is audible. There is associated hepatomegaly and distension of neck veins, but no respiratory distress. The electrocardiogram (ECG) is shown below. The most likely diagnosis is:
A. aortic valve regurgitation.
B. cortriatriatum.
C. mitral valve stenosis.
D. pulmonary valve regurgitation.
E. tricuspid valve stenosis.
E. tricuspid valve stenosis.
Causes mid diastolic murmur. History indicates right sided obstruction, without heart failure so occurs before RV. ECG shows RA hypertrophy.
A seven-year-old girl who underwent surgical repair of coarctation of the aorta as a neonate requires a dental extraction because of severe dental caries. She has no known drug allergies. The most appropriate recommendation for antibiotic prophylaxis is:
A. intravenous amoxycillin and intravenous gentamicin 30 minutes before and six hours after procedure.
B. no antibiotic prophylaxis is required.
C. oral amoxycillin one hour before procedure.
D. oral azithromycin one hour before procedure.
E. oral clindamycin one hour before and six hours after procedure.
B. No antiobiotic prophylaxis. Guidelines indicate that antibiotics (amoxycillin) one hour before procedure is required for patients with a prosthetic valve, patients within 6months of any cardiac prosthesis procedure.
Official answer is C (Updated guidelines since this paper)
A 15-year-old male has recurrent haematuria. He had microscopic haematuria noted during an admission with pneumonia six months earlier. Follow up urine microscopy was normal a month later. He has developed macroscopic haematuria following a recent throat infection which lasted six days. Examination is unremarkable. Investigations show a normal full blood count, creatinine, electrolytes, calcium, liver function, clotting screen and chest radiograph. A mid-stream specimen of urine shows 90 red blood cells per high powered field but no casts or protein. Urine culture is sterile. The most likely diagnosis is:
A. Alport.
B. Haemohorregic cystitis.
C. Henoch-Schönlein purpura.
D. IgA nephropathy.
E. Wegener’s granulomatosis.
D. IgA nephropathy.
A 15-month-old infant has itchy lesions on the scalp, neck, palms and soles (as shown above). The most likely diagnosis is:
A. Coxsackie A16 infection (Hand, foot and mouth disease).
B. eczema herpeticum.
C. impetigo.
D. pompholyx (dyshidrotic eczema).
E. scabies.
E. scabies.
A 15-year-old boy presents to the emergency department with a brief history of being agitated and confused. He is febrile, sweating and tachycardic, and has dilated pupils. He has increased limb tone, hyperreflexia, and myoclonic jerking of limbs. He has a long history of behaviour disturbance, and has been in foster care for several months as he was unable to be contained at home. His carers report that he has been prescribed the selective serotonin reuptake inhibitor paroxetine, but they are unsure whether he has been taking it. He has been out late in the evenings recently. What is the most likely diagnosis?
A. Inhalent abuse (chroming).
B. Marijuana-induced psychosis.
C. Methylenedioxymethamphetamine (MDMA, “ecstasy”) overdose.
D. Neuroleptic malignant syndrome.
E. Serotonin syndrome.
E. Serotonin syndrome.
A newborn infant is noted to be tachypnoeic in the post natal ward. His chest X-ray is shown below. What is the most likely diagnosis?
A. Congenital cystic adenomatoid malformation.
B. Congenital diaphragmatic hernia.
C. Congenital lobar emphysema.
D. Intralobar sequestration.
E. Pulmonary interstitial emphysema.
B. Congenital diaphragmatic hernia.
An eight-year-old boy presents with an isolated rash on his foot as shown above. The most appropriate initial management is:
A. oral griseofulvin.
B. oral prednisolone.
C. oral terbinafine.
D. topical mometasone.
E. topical terbinafine.
E. topical terbinafine.
With careful dose-titration and monitoring, short-term treatment with methylphenidate has been shown to be efficacious for the treatment of attention deficit hyperactivity disorder (ADHD). If this treatment for children with ADHD is maintained for the long-term, which of the following combinations best represents the ongoing efficacy and impact upon weight and height?
C. Efficacy(⇔), Weight (↓), Height (↓)
Side Effects
Side effects may occur more commonly in children who are treated for ADHD during the preschool years [49]. Methylphenidate does not appear to increase the frequency or severity of seizures in children who also are receiving appropriate anticonvulsant medications.
Common side effects include:
- Anorexia or appetite disturbance (80 percent)
- Sleep disturbances (3 to 85 percent)
- Weight loss (10 to 15 percent)
Less common side effects include increased heart rate and blood pressure, headache, social withdrawal, nervousness, irritability, stomach pain, and rebound irritability or moodiness. Deceleration of linear growth may occur, but adult height is not affected.
In patients who have previously received radiotherapy, exposure to which one of the following chemotherapy agents is most likely responsible for the skin reaction as shown?
A. Cisplatin.
B. Cyclophosphamide.
C. Daunorubicin.
D. Etoposide.
E. Methotrexate.
C. Daunorubicin.
Doxo and dauno – radiation dermatitis
A three-year-old boy presents with episodes of loss of consciousness related to exercise and also minor trauma. During the episodes he becomes pale, his eyes may roll upwards and he has had urinary and faecal incontinence. His electrocardiogram (ECG) is shown above. What is the most likely diagnosis?
A. Aortic stenosis.
B. Breath holding episodes.
C. Long Q -T syndrome.
D. Primary pulmonary hypertension.
E. Seizure disorder.
D. Primary pulmonary hypertension.
The audiogram of a six-year-old boy who completed chemotherapy for hepatoblastoma four weeks ago is shown below. The audiogram is most consistent with:
A. conductive hearing loss.
B. high-frequency sensorineural hearing loss.
C. low-frequency sensorineural hearing loss.
D. non-compliance with testing.
E. normal findings for age.
B. high-frequency sensorineural hearing loss.
An infant weighing 10kg presents with fever and a rash as shown below. His heart rate is 150/minute and blood pressure is 85/35 mmHg. Which of the following is the most appropriate initial intravenous fluid management?
A. 20 mL/hour of 0.9% saline.
B. 40 mL/hour of 0.18% saline with 4% glucose.
C. 40 mL/hour of 0.9% saline.
D. 200 mL bolus of 0.18% saline with 4% glucose.
E. 200mL bolus of 0.9% saline.
E. 200mL bolus of 0.9% saline.
You are asked to see a term 4.1kg newborn infant who is now six hours old. The nursing staff in the special care nursery are concerned that the infant may be having seizures. In two separate episodes, the infant had jerking of the upper limbs that lasted for two to three minutes. The infant was admitted to the nursery after a vaginal delivery with a prolonged second stage of labour. Blood gas analysis from the umbilical cord at the time of delivery revealed pH 7.03 [7.34-7.43], pO2 18 mmHg [50-90], pCO2 90 mmHg [31-42], base deficit of -24 [Base excess -5-+5]. You arrive to find a male infant who has eyes tonically deviated to the left, and has 30 seconds of rhythmic jerking of the left upper limb. The infant then cries briefly before settling. Your initial investigations are as follows:
The most likely cause of this infant’s seizures is:
A. hypocalcaemia.
B. hypoglycaemia.
C. hypoxic-ischaemic encephalopathy.
D. intracranial haemorrhage.
E. stroke.
C. hypoxic-ischaemic encephalopathy.
Cord gas: acidotic, low paO2, high paco2, high BE – evidence of birth asphyxia
Evidence of seizure
Electrolytes relatively normal, glucose on low side
Creatinine high (80), INR deranged – evidence of hypoxic-ischaemic injury to organs
Consequences of HI:
- CNS – HIE, infarction, IC haemorrhage, seizures, cerebral oedema, hypotonia, hypertonia
- CVS – MI, poor contractility, cardiac stun, tricuspid insufficiency, hypotension
- Pulmonary – pulm HTN, pulm haemorrhage, RDS
- Renal – acute tubular or cortical necrosis
- Adrenal – adrenal haemorrhage
- GIT – perforation, ulceration with haemorrhage, necrosis
- Metabolic – inappropriate secretion of ADH, hyponatraemia, hypoglycaemia, hypocalcaemia, myoglobinuria
- Integument – subcut fat necrosis
- Haematology – DIC
A seven-month-old girl is referred to outpatient clinic for assessment of a misshapen head. She weighs 7.4 kg (50th percentile), measures 66.5 cm (50th percentile) and her head circumference is 40 cm (5th percentile). Apart from her head shape there are no dysmorphic features. She does not roll, does not reach and has slight head lag on pull to sit. Her head and facial appearance is shown below.
The most likely reason for this appearance is:
A. coronal craniosynostosis.
B. deformational plagiocephaly.
C. lambdoid craniosynostosis.
D. metopic craniosynostosis.
E. sagittal craniosynostosis.
A. coronal craniosynostosis.
Plagiocephaly - Plagiocephaly occurs the most often and happens in approximately one out of every 2,500 births. It involves fusion of either the right or left side of the coronal suture that runs from ear to ear. This is called coronal synostosis and it causes the normal forehead and the brow to stop growing. Therefore, it produces a flattening of the forehead and the brow on the affected side, with the forehead tending to be excessively prominent on the opposite side. The eye on the affected side may also have a different shape. There may also be flattening of the back area (occipital). Unilateral lambdoidal suture synostosis may cause plagiocephaly, as well.
None of the seven children of a profoundly deaf couple has any hearing impairment (see pedigree below). The most likely explanation for this is:
A. chance.
B. one or both of the parents has an autosomal dominant form of deafness, which is highly variable in its expression.
C. one or both of the parents has a non-genetic form of deafness.
D. the father has X-linked deafness and the mother has autosomal recessive deafness.
E. the parents have autosomal recessive deafness due to mutations in different genes.
E. the parents have autosomal recessive deafness due to mutations in different genes.
Not Xlinked as sister has it, not autosomal dominant, not chance as consanguinuity, not non-genetic
A 13-year-old girl presents with a fractured ankle requiring surgical fixation.
The most likely explanation for her anaemia is:
A. α-thalassaemia trait.
B. β-thalassaemia trait.
C. congenital sideroblastosis.
D. iron-deficiency anaemia.
E. sickle cell trait.
B. β-thalassaemia trait.
A 13-year-old girl who has a body mass index (BMI) of 31kg/m2 [95th centile for age and sex = 28kg/m2], is investigated for obesity. Her periods are irregular and she has a family history of diabetes. On examination she has acanthosis nigricans of the neck and the axillae. Investigations are shown. The most likely cause of these findings is:
A. gallstones.
B. non-alcoholic fatty liver disease.
C. polycystic ovary disease.
D. type 2 diabetes mellitus.
E. viral hepatitis.
B. non-alcoholic fatty liver disease.
A two-year-old boy is admitted with fever of 39°C and refusal to walk. On examination he looks lethargic and unwell. His left leg is painful and hot to touch. Photographs of his leg and tongue are shown below. The best empiric antibiotic for a child with this clinical picture is:
A. amoxycillin-clavulanate.
B. cefotaxime.
C. flucloxacillin.
D. penicillin.
E. trimethoprim-sulphamethoxazole.
C. flucloxacillin.
A 16-year-old male has a past history of Hodgkin disease treated with chemotherapy. He presents with a chronic dry cough. His chest X-ray is shown below. Which of the following drugs is most likely responsible for the radiographic changes?
A. Bleomycin.
B. Busulphan.
C. Carmustine.
D. Cyclophosphamide.
E. Methotrexate.
A. Bleomycin.
Pulmonary fibrosis – seen with bleomycin and nitrosureas, plus ifosfamide, cyclophosphamide
A seven-year-old girl is brought into the emergency department with a generalised rash. Her arm is shown above. This rash is most commonly found in association with:
A. administration of carbamazepine.
B. administration of cefaclor.
C. enterovirus infection.
D. herpes simplex virus (HSV) infection.
E. Mycoplasma pneumoniae infection.
D. herpes simplex virus (HSV) infection.
HSV most common cause, mycoplasma next most common.
A 15-year-old girl with chronic eczema presents with facial lesions as shown. The most likely infecting organism is:
A. Candida albicans.
B. Chlamydia trachomatis.
C. Herpes simplex virus.
D. Herpes zoster virus.
E. Neisseria gonorrhoeae.
C. Herpes simplex virus.
A six-year-old girl with Down syndrome is seen for annual review. Her parents report she has been well. She is adjusting to school with some attention difficulties. Her growth charts are shown. She resists examination. What is the most likely cause for her growth pattern?
A. Coeliac disease.
B. Down syndrome.
C. Growth hormone deficiency.
D. Hypothyroidism.
E. Precocious puberty.
D. Hypothyroidism.
A five-year-old boy presents with multiple ulcerated skin lesions (as shown) with raised margins, which commenced as pustular lesions associated with fever a week prior to presentation. Pyoderma gangrenosum is confirmed by skin biopsy. Which of the following is most likely to be associated with this skin lesion?
A. Chronic granulomatous disease.
B. Human immunodeficiency virus (HIV) infection.
C. Inflammatory bowel disease.
D. Pseudomonas septicaemia.
E. Systemic lupus erythematosis.

C. Inflammatory bowel disease.
Patients with pyoderma gangrenosum usually describe the initial lesion as a bite reaction, with a small, red papule or pustule changing into a larger ulcerative lesion. Often, patients give a history of a brown recluse or other spider bite, but they have no evidence that a spider actually caused the initial event.
Pain is the predominant historical complaint.
Arthralgias and malaise may often be present.
A 13-year-old boy presents to the emergency department after falling out of a hammock onto grass. He is complaining of a sore left shoulder. On examination there is a tender lump over the left clavicle, but the overlying skin is not compromised. An X-ray of the area is shown below. Which of the following is the best next step in management?
A. Broad armsling.
B. Closed reduction.
C. Figure-of-eight bandage.
D. Open reduction.
E. U-plaster.
A. Broad armsling.
Nonoperative treatment of clavicle fractures consists of sling support for 6 weeks. During this period, the patient does perform pendulum exercises for shoulder motion and active range of motion of the elbow and hand. After 6 weeks, the patient begins passive assisted motion of the shoulder and progresses to active range of motion as tolerated. Use of the sling may be discontinued as pain allows – shoulder sling or figure of 8
A male infant attends at six months of age following relief of neonatal bladder outlet obstruction. The initial micturating cystourethrogram is shown below. Which of the following findings is most suggestive of a poor long-term prognosis?
A. Nadir serum creatinine > 0.1 mmol/L.
B. Persistent bladder dilatation.
C. Persistent hydronephrosis.
D. Persistent ureteric reflux.
E. Poor urinary stream.
A. Nadir serum creatinine > 0.1 mmol/L.
A seven-year-old boy presents with a three month history of staring spells associated with eye flickering and lip smacking movements. His electroencephalogram (EEG) is shown below. Which of the following anticonvulsants is most likely to aggravate the underlying seizure disorder in this patient?
A. Carbamazepine.
B. Clonazepam.
C. Ethosuximide.
D. Sodium valproate.
E. Topiramate.
A. Carbamazepine.
History is suggestive of absence seizure in which the typical history is onset 5-7 years of age, up to hundreds of events per day lasting a few seconds and accompanied by flutter or upward rolling of eyes. May have simple automatisms such as lip smacking, clothing picking, minimal falling forward of the head. No postictal period and the patient usually resumes what they were doing immediately prior to seizure.
Carbamazepine reported to worsen absence seizures. Recommended treatment varies amongst organisations. Ethosuxamide, Valproic Acid and Lamotragine are the three variations.
A newborn baby of Pacific Islander descent is found to have indeterminate gender. Birth weight was 3200 g and the baby is healthy. The phallus is short and with chordee. A urethra is visible at the base of the phallic structure. There is a mass in each inguinal canal the size of a testis. The genitalia are shown above. The most likely diagnosis is:
A. female with congenital adrenal hyperplasia.
B. male with congenital adrenal hyperplasia.
C. truehermaphrodite.
D. Turner syndrome.
E. undervirilised male.
E. undervirilised male.
A six-year-old girl presents to the emergency department with a persistent headache and dizziness following a minor fall one week previously in which there was no loss of consciousness. She has had several vomits today and feels unwell. On examination, she is afebrile with a respiratory rate of 24/minute, a heart rate of 110/minute and a blood pressure of 96/55 mmHg. She is pale and quiet but able to respond appropriately to questions and commands. There are no focal neurological signs. Her non-contrast computed tomography (CT) scan of the head is shown below. Which of the following is the most likely diagnosis?
A. Extradural haematoma.
B. Intracerebral haemorrhage.
C. Meningioma.
D. Subarachnoid haematoma.
E. Subdural haematoma.
A. Extradural haematoma.
A three-week-old term male infant is noticed by his mother to be breathless during feeds. On examination he is tachypnoeic with a respiratory rate of 90 breaths per minute, marked subcostal recession, and poor breath sounds on the left side. The chest X-ray is shown below. The most likely diagnosis is:
A. congenital cystic adenomatoid malformation.
B. congenital lobar emphysema.
C. dextrocardia.
D. diaphragmatichernia.
E. pneumothorax.
B. congenital lobar emphysema.
An 18-month-old baby of consanguineous parents of Muslim faith is found to be delayed in his motor milestones. In particular he is not walking. He is breast fed, and tolerates feeds well. He is the third child in the family and his cognitive development is similar to his two older siblings. The following investigations are done:
The most likely cause of these findings is:
A. Familial hyperphophataemic rickets.
B. Nutritional vitamin D deficiency.
C. Primary hyperparathyroidism.
D. Pseudohypoparathyroidism.
E. Vitamin D resistant rickets.
B. Nutritional vitamin D deficiency.
A three-year-old girl is seen with a history of a 24-hour viral illness. She is brought to the hospital following a 15-minute generalised seizure. Blood glucose is 2.6 mmol/L [4.5-6.2].
Further investigations are as follows:
What is the most likely diagnosis in this child?
A. Glucokinase enzyme mutation.
B. Glutamate dehydrogenase enzyme mutation.
C. Ketotic hypoglycaemia.
D. Malabsorption.
E. Maple syrup urine disease.
C. Ketotic hypoglycaemia.
An 11-year-old girl has undergone a T-cell depleted unrelated bone marrow transplant for relapsed acute lymphoblastic leukaemia. Recovery is complicated by slow neutrophil engraftment, grade 3 acute graft-versus-host disease requiring high dose methylprednisolone, and persistent fevers. The computerised tomography (CT) scan of her chest, performed at day +50 post-transplantation, is shown above. Which one of the following pathogens is most likely to be responsible for the CT scan findings?
A. Aspergillus fumigatus.
B. Candida albicans.
C. Klebsiella pneumoniae.
D. Scedosporium prolificans.
E. Staphylococcus aureus.
A. Aspergillus fumigatus.
The mother of a ten-year-old with type 1 (insulin dependent) diabetes mellitus asks for your advice about a breakfast cereal, recommended as “good for diabetics” by a health food shop. The cereal Nutrition Information Panel is shown. Based on this information you advise that the cereal is not a good choice for her child because it is:
A. high in sugar, although low in fat and high in fibre.
B. high in sugar and high in fat, although high in fibre.
C. high in sugar, high in fat and low in fibre.
D. low in sugar and low in fat, but also low in fibre.
E. low in sugar, but high in fat and low in fibre.
B. high in sugar and high in fat, although high in fibre.
A 4.9kg term infant is delivered by emergency caesarian section for foetal distress. His mother had no antenatal care. He requires four minutes of bag and mask ventilation but by 10 minutes of age has an Apgar score of 9. He tolerates a bottle feed of 45ml of milk formula at 60 minutes of age. Laboratory blood sugar is 0.9 mmol/L at four-hours of age and he is admitted to the Neonatal Intensive Care Unit (NICU). On examination he is macrosomic, hirsute features. Laboratory investigations include: Which of the following is the most likely cause of the hypoglycaemia?
A. Adrenal insufficiency.
B. Fatty acid oxidation defect.
C. Hyperinsulinism.
D. Hypopituitarism.
E. Simple substrate deficiency.
C. Hyperinsulinism.
Results normal except low PGL, high insulin – features of being IDM
Causes of hypoglycaemia
- reduced glucose availability
- preterm, IUGR, perinatal asphyxia, hypothermia, maternal beta-blockers, sepsis, inadequate milk
- hyperinsulinism
- maternal DM, isoimmunisation haemolytic disease
- increased glucose consumption
- polycythaemia
- rare causes
- hypopituitarism, adrenocortical insufficiency (eg CAH), IEM (eg galactosaemia), fetal alcohol syndrome, Beckwith-Wiedemann syndrome, persistent hyperinsulinaemic hypoglycaemia of infancy, islet-cell adenoma
Urinary ketones: normal physiologic response to decreased glucose production is increased mitochondrial fatty acid beta-oxidation and the production of ketones. Ketones provide an indirect indication of whether hypoglycemia is the result of inadequate production or of over-utilization of glucose (insulin-induced over-utilization, associated with low urine or plasma ketones).
A six-month-old boy presents to the emergency department with a five day history of coryza, low grade fever and poor oral intake. He has developed an extensive migratory rash overnight and is generally miserable. On examination he has a widespread rash as shown below, with no evidence of mucous membrane involvement. He has been previously well and is not on any regular medications. Which of the following is the most likely diagnosis?
A. Erythema marginatum.
B. Erythema multiforme.
C. Stevens-Johnson syndrome.
D. Urticaria.
E. Viral exanthem.
D. Urticaria.
Erythema marginatum is described as the presence of pink rings on the trunk and inner surfaces of the limbs which come and go for as long as several months. It is found primarily on extensor surfaces. It occurs in less than 5% of patients with rheumatic fever, but is considered a major Jones criterion when it does occur. The four other major criteria include carditis, polyarthritis, Sydenham’s Chorea, and subcutaneous nodules. In this case, it is often associated with Group A streptococcal infection.
Erythema multiforme is a skin condition of unknown cause, possibly mediated by deposition of immune complex (mostly IgM) in the superficial microvasculature of the skin and oral mucous membrane that usually follows an infection or drug exposure. It is a common disorder, with peak incidence in the second and third decades of life.
A three-year-old boy presents to the emergency department with a fever and coryza. On examination he has a temperature of 37.8°C, heart rate 110/minute, respiratory rate 30/minute, blood pressure 88/60 mmHg. He is miserable with a runny nose and palpable small cervical nodes. He has bilaterally red tympanic membranes which are not bulging and his pharynx is slightly inflamed with no purulent exudate. His chest and abdominal examination are unremarkable and he has no evidence of oedema. His urinalysis demonstrates 3+ haematuria, with no proteinuria. A spun urine demonstrates the following: Which of the following is the most appropriate next investigation?
A. Coagulation studies.
B. Renal ultrasound.
C. Repeat urinalysis in 3-6 months.
D. Serum creatinine.
E. Urinary calcium / creatinine ratio.
C. Repeat urinalysis in 3-6 months.
A term male infant is admitted to hospital on day seven of life for repair of an inguinal hernia. He is the first child to non-consanguineous parents. His mother is quite anxious, and reports that her son has not been feeding particularly well over the past two days. He is afebrile and his clinical examination reveals a reducible right sided inguinal hernia. Otherwise his examination is normal. The pre-operative chest X-ray arranged by the anaesthetists is shown below. The chest X-ray is most consistent with:
A. cardiomegaly.
B. congenitalneuroblastoma.
C. extra-pulmonarysequestration.
D. normal thymic shadow.
E. right upper lobe consolidation.
D. normal thymic shadow.
