Cerebellar agenesis
Cerebellar agenesis is a rare condition in which a brain develops without the cerebellum. The cerebellum controls smooth movement, and when it does not develop, the rest of the brain must compensate, which it cannot do completely.[1] The condition is not fatal on its own, but people born without a cerebellum experience severe developmental delays, language deficits, and neurological abnormalities.[2] As children with cerebellar agenesis get older, their movements usually improve.[3] It can co-exist with other severe malformations of the central nervous system, like anencephaly, holoprosencephaly, and microencephaly.[1]
The condition was first reported in 1831. Ten cases had been reported as of 1998.[1] Agenesis of one half or another part of the cerebellum is more common than complete agenesis.[4]
Cerebellar agenesis can be caused by mutations in the PTF1A gene.[5]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
