Nokea
Recognised features of myotonic dystrophy include:
- A. Phenomenon of anticipation
- B. Muscle pain
- C. Diplopia
- D. Cardiomyopathy
Correct Answer: A
Rationale: The phenomenon of anticipation, where symptoms become more severe or appear at an earlier age as the disorder is passed through generations, is a recognized feature of myotonic dystrophy.
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An 8-year-old from the former Soviet Union is brought to your office because of a heart murmur and dusty blue skin. He has marked clubbing of his fingers and toes, and his hematocrit is 70%. He has a grade 4/6 holosystolic murmur. His chest x-ray reveals a normal pulmonary blood flow as well as a right-sided aortic arch. What is the likely diagnosis?
- A. total anomalous venous return
- B. tetralogy of Fallot
- C. Eisenmenger syndrome
- D. transposition of the great vessels
Correct Answer: C
Rationale: Eisenmenger syndrome involves reversal of shunt direction due to long-standing pulmonary hypertension, explaining the cyanosis and clubbing.
Coarctation of aorta is:
- A. Commonly associated with Turner's syndrome
- B. Inherited as autosomal dominant
- C. Associated with intracranial aneurysms
- D. Excluded from the diagnosis in the presence of femoral pulses
Correct Answer: A
Rationale: Coarctation of the aorta is commonly associated with Turner's syndrome, a chromosomal condition affecting females.
The following are suggestive of abnormal language development:
- A. Not localising sound at 4 months of age
- B. No response to human words at 6 weeks
- C. Not understanding 'no' at 18 months of age
- D. Does not move to music at 2 years of age
Correct Answer: C
Rationale: Failure to understand simple commands like 'no' by 18 months is a red flag for abnormal language development.
Which of the following is least considered to be a normal variant in newborns?
- A. Milia
- B. Neonatal pustular melanosis
- C. Dermal melanocytosis
- D. Infantile acropustulosis
Correct Answer: D
Rationale: Infantile acropustulosis is not considered a normal variant in newborns; it is a rare condition characterized by recurrent pustular eruptions.
Common causes of jaundice in a 12-hour-old neonate include:
- A. Glucose-6-phosphate dehydrogenase deficiency
- B. Rhesus isoimmunisation
- C. Crigler-Najjar syndrome type II
- D. Choledochal cyst
Correct Answer: B
Rationale: Rhesus isoimmunisation can cause severe hemolysis in neonates, leading to early-onset jaundice within the first 12 hours of life.