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 We report on a 30-month-old girl with genetically confirmed PBS (who has also been included in a recently published series 3), presenting at 2 months of age with head titubation, a movement disorder that has never been reported in association with PBS. To our knowledge, she is the youngest patient with this condition who has been described in the literature.

Early-onset head titubation in a child with Poretti-Boltshauser syndrome

Masson, Riccardo;Piretti, Elena;PELLEGRIN, Serena;GUSSON, Elena;CANTALUPO, Gaetano
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 We report on a 30-month-old girl with genetically confirmed PBS (who has also been included in a recently published series 3), presenting at 2 months of age with head titubation, a movement disorder that has never been reported in association with PBS. To our knowledge, she is the youngest patient with this condition who has been described in the literature.
vestibulo-ocular reflex (VOR)
LAMA1
cerebellar dysplasia
cerebellar cysts
pseudopendular nystagmus
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/960894
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