Ataxia. Delayed motor and mental development.
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Profound small cerebellum in a fluid filled, but normal sized posterior fossa. Hypoplastic ventral pons (flat ventral surface of the pons). Curved up thinned out corpus callosum. Bilateral occipital horn colpocephaly.
This patient presented with obvious mental and motor developmental delay, ataxia, and poor social contact.
Radiologically, MRI revealed generalized cerebellar atrophy with hypoplasia of the ventral pons (flat ventral surface of the pons) as well as mild ventriculomegaly.
The diagnosis of this case is based on MRI findings.