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1

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. 

2

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.

3

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%.

4

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. 

5

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.

6

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.

7

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. 

8

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.

9

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.

10

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.

11

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.

12

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.

13

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.

14

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. 

15

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.

16

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. 

17

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

18

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.
 

19

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

20

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
     

21

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

22

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.

23

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

24

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

25

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.

26

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.

27

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

28

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
 

29

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.

30

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.