LA06.1
category
Hypoplasia or agenesis of cerebellar hemispheres
Definition
Cerebellar hypoplasia corresponds to underdevelopment of cerebellar structures that can involve the vermis and/or the cerebellar hemispheres from partial to total agenesis. It has been described in the context of various clinical entities: chromosomal anomalies, in utero exposure to toxins and infectious agents, metabolic disorders (disorders of glycosylation and CoQ10 deficiencies), and a wide variety of rare genetic neurological diseases. It can be confined to the cerebellum, or affect other CNS structures: the midbrain (molar tooth syndromes), pons and medulla (ponto-cerebellar hypoplasia), cerebral cortex (lissencephaly cerebellar hypoplasia syndromes).
Exclusions
- PHACE syndrome
(4B4Y)
Also indexed as
Hypoplasia or agenesis of cerebellar hemispheresIsolated bilateral hemispheric cerebellar hypoplasiaIsolated unilateral hemispheric cerebellar hypoplasia