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. 2 © 2017 American Academy of Neurology.
EARLY-ONSET HEAD TITUBATION IN A CHILD WITH PORETTI-BOLTSHAUSER SYNDROME
VALENTE, ENZA MARIA;
2017-01-01
Abstract
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. 2 © 2017 American Academy of Neurology.File in questo prodotto:
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