Presentation
Primary lactic acidosis.
Patient Data
Age: 22 days
Gender: Female
From the case:
Dandy-Walker variant
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The brain MRI demonstrates normal ventricular system and midline structures. A large posterior fossa is noted with cerebellar hypoplasia notably in the left cerebellar hemisphere with enlargement of the retrocerebellar subarachnoid space that communicates with the 4th ventricle. There is no evidence of pontine or brainstem hypoplasia.
Case Discussion
The described findings are most likely of Dandy-Walker variant.