Question of the Day

Theme:Developmental regression

A	Canavan disease
B	Krabbe disease
C	Leigh encephalopathy
D	Maple syrup urine disease
E	Menkes disease
F	Pelizaeus-Merzbacher disease
G	Pena-Shokeir syndrome
H	Phenylketonuria
I	Rett syndrome

Select the term that best matches each case:

A 9-month-old boy presents with roving eye movements, head nodding and nystagmus. He has delayed motor milestones and his fundi appear pale.

Please select an optionCanavan diseaseKrabbe diseaseLeigh encephalopathyMaple syrup urine diseaseMenkes diseasePelizaeus-Merzbacher diseasePena-Shokeir syndromePhenylketonuriaRett syndrome

An 18-month-old girl presents with ataxia and hand tremor. She developed normally in the first year, but has since been regressing. On examination she has intermittent apnoeic pauses, hand tremor and an ataxic gait.

Please select an optionCanavan diseaseKrabbe diseaseLeigh encephalopathyMaple syrup urine diseaseMenkes diseasePelizaeus-Merzbacher diseasePena-Shokeir syndromePhenylketonuriaRett syndrome

A 4-month-old boy presents with crying, feeding difficulty and irritability. On examination he appears generally stiff, responds poorly to sound and has little visual interest. He has poor head control.

Please select an optionCanavan diseaseKrabbe diseaseLeigh encephalopathyMaple syrup urine diseaseMenkes diseasePelizaeus-Merzbacher diseasePena-Shokeir syndromePhenylketonuriaRett syndrome