Hypoplasia or agenesis of cerebellar hemispheres

Description

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).

Excludes

• LD2F.1Y – PHACE syndrome

Exclusions from above levels

• LA03 – Arnold-Chiari malformation type II
• LA07.4 – Arnold-Chiari malformation type I
• http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism