Cerebellar vermis hypoplasia (CVH) is part of many different malformation syndromes, especially Joubert syndrome and Joubert-related cerebello-oculo-renal syndromes.
Synopsis
hypoplasia and dysplasia of the ponto-mesencephalic isthmus and the superior portion of the cerebellar vermis ("molar tooth" sign on MRI)
hypoplasia of the cerebellar vermis, especially the anterior vermis, is often associated with a complex brainstem malformation, comprising a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex;
this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent mental retardation;
Etiology (Examples)
cerebello-oculo-renal syndromes
- Joubert syndromes
- Arima syndrome
- Senior-Loken syndrome
- COACH syndromes
See also
cerebellar malformations