Poretti-Boltshauser syndrome (PBS) is a recently described cerebellar disorder characterized by cerebellar dysplasia with cysts and an enlarged and square-like shaped fourth ventricle. 1 The clinical phenotype includes nonprogressive cerebellar ataxia, ocular motor apraxia (OMA), intellectual disability, and frequent high myopia or retinal dystrophy. 1 Mutations in LAMA1 have been identified as the cause of PBS.
ASJC Scopus subject areas
- Clinical Neurology