Publications

Authors:

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

Title:

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

Year:

2017

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Referee:

Sì

Name of journal:

NEUROLOGY

ISSN of journal:

0028-3878

N° Volume:

88

Number or Folder:

15

Page numbers:

1478-1479

Keyword:

vestibulo-ocular reflex (VOR); LAMA1; cerebellar dysplasia; cerebellar cysts; pseudopendular nystagmus

Short description of contents:

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.

Product ID:

97113

Handle IRIS:

11562/960894

Last Modified:

November 15, 2022

Bibliographic citation:

Masson, Riccardo; Piretti, Elena; Pellegrin, Serena; Gusson, Elena; Poretti, Andrea; Valente, Enza Maria; Cantalupo, Gaetano, Early-onset head titubation in a child with Poretti-Boltshauser syndrome «NEUROLOGY» , vol. 88 , n. 15 , 2017 , pp. 1478-1479

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