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

doi:10.1212/WNL.0000000000003823

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

School of Medicine

Research output: Contribution to journal › Short survey

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 language	English (US)
Pages (from-to)	1478-1479
Number of pages	2
Journal	Neurology
Volume	88
Issue number	15
DOIs	https://doi.org/10.1212/WNL.0000000000003823
State	Published - Apr 11 2017

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ASJC Scopus subject areas

Clinical Neurology

Cite this

Masson, R., Piretti, E., Pellegrin, S., Gusson, E., Poretti, A., Valente, E. M., & Cantalupo, G. (2017). Early-onset head titubation in a child with Poretti-Boltshauser syndrome. Neurology, 88(15), 1478-1479. https://doi.org/10.1212/WNL.0000000000003823

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AU - Masson, Riccardo

AU - Piretti, Elena

AU - Pellegrin, Serena

AU - Gusson, Elena

AU - Poretti, Andrea

AU - Valente, Enza Maria

AU - Cantalupo, Gaetano

PY - 2017/4/11

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AB - 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

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10.1212/WNL.0000000000003823