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

Riccardo Masson, Elena Piretti, Serena Pellegrin, Elena Gusson, Andrea Poretti, Enza Maria Valente, Gaetano Cantalupo

Research output: Contribution to journalShort surveypeer-review

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

Original languageEnglish
Pages (from-to)1478-1479
Number of pages2
JournalNeurology
Volume88
Issue number15
DOIs
Publication statusPublished - Apr 11 2017

ASJC Scopus subject areas

  • Clinical Neurology

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