/pontocerebellar hypoplasia type 8

pontocerebellar hypoplasia type 8

Rare Disease

MONDO:0013990

Also Known As

CHMP1A non-syndromic pontocerebellar hypoplasiaPCH8non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1Apontocerebellar hypoplasia due to CHMP1A mutationpontocerebellar hypoplasia type 8pontocerebellar hypoplasia, type 8

Definition

A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.