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