Hypoplasia or agenesis of cerebellar hemispheres (Q46035): Difference between revisions
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Hipoplasia cerebelar corresponde ao subdesenvolvimento de estruturas cerebelares, que pode envolver o vermis e/ou os hemisférios cerebelares de agenesia parcial a total. Tem sido descrita no contexto de várias entidades clínicas: anomalias cromossômicas, exposição intrauterina a toxinas e agentes infecciosos, distúrbios metabólicos (distúrbios de glicosilação e deficiências de CoQ10) e uma grande variedade de doenças neurológicas genéticas raras. Pode estar restrita ao cerebelo ou afetar outras estruturas do SNC: o mesencéfalo (síndromes dentais molares), ponte e medula (hipoplasia ponto-cerebelar), córtex cerebral (síndromes de hipoplasia cerebelar com lissencefalia). | |||
| description / en | description / en | ||
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). | |||
Revision as of 14:21, 13 August 2026
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).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LA06.1 |
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| English | Hypoplasia or agenesis of cerebellar hemispheres |
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). |
