Pontocerebellar hypoplasia

Case contributed by Dr Khairy Abdella

Presentation

Ataxia. Delayed motor and mental development.

Patient Data

Age: 7-year-old
Gender: Female

MRI Brain

Modality: MRI

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.

Case Discussion

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. 

 

 

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Case Information

rID: 41922
Case created: 27th Dec 2015
Last edited: 12th Jan 2016
Inclusion in quiz mode: Included

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