Focal cerebellar heterotopia

Case contributed by Vinay V Belaval
Diagnosis certain


Global developmental delay

Patient Data

Age: 2 years
Gender: Female

MRI images show well-defined areas of altered signals in the bilateral cerebellar deep white matter in the periventricular region (on either side of inferior cerebellar vermis). These altered signals have a similar pattern as that of cerebellar cortex with interspersed T2 bright foliae. These features were consistent with focal bilateral cerebellar deep white matter heterotopia.

Myelination is adequate for age. Corpus callosum is normal in thickness. Rest of the supratentorial and infratentorial brain parenchyma appears normal.

Case Discussion

A 2-year-old child with global developmental delay underwent MRI brain imaging to assess any perinatal injury or dysmyelination. 

MRI images showed focal areas of altered signals in the bilateral cerebellar deep white matter with a similar pattern as that of the cerebellar cortex - representing heterotopia. No other pathology was evident. 

Cerebellar cortical dysplasias can vary from focal to diffuse extensive malformations. Some cortical dysplasias are associated with other syndromes (like congenital muscular dystrophy) or other frequent brain anomalies. These patients usually present with global or motor developmental delay, ataxia or hypotonia.


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