Publications

Authors:

Masson, Riccardo; Guerra, Silvia; Cerini, Roberto; Pensato, V.; Gellera, C.; Taroni, F.; Simonati, Alessandro

Title:

Early white matter involvement in an infant carrying a novel mutation in ACOX1

Year:

2016

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Format:

A Stampa

Referee:

Sì

Name of journal:

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

ISSN of journal:

1090-3798

N° Volume:

20

Number or Folder:

3

:

Harcourt Publishers Limited:Foots Cray High Street, Sidcup Kent DA14 5HP United Kingdom:011 44 20 83085700, EMAIL: journals@harcourt.com, INTERNET: http://www.harcourt-international.com, Fax: 011 44 20 83085876

Page numbers:

431-434

Keyword:

ACOX1 disease; Cerebellum; MRI; Peroxisomal disorders

Short description of contents:

We describe the clinical findings and MRI features observed in a child who presented a two-step disease course: he was hypotonic at birth and soon afterwards developed seizures, which were partially responsive to treatment; he subsequently showed developmental delay and a progressive neurological deterioration with the onset of severe seizures at around three years of age. Head MRI at age 20 days was unremarkable, whereas at 25 months it showed bilateral hyperintensity of the deep cerebellar nuclei; five months later, the signal hyperintensity was also present in the cerebellar white matter and ventral pontine fibre tracts. Molecular analysis revealed a novel ACOX1 mutation, predicting a largely truncated protein. The white matter involvement, which followed an ascending trajectory from cerebellar and brainstem structures to the cerebral hemispheres, seemed to originate from the perinuclear white matter of the deep cerebellar nuclei.

Web page:

http://dx.doi.org/10.1016/j.ejpn.2016.02.007

Product ID:

91704

Handle IRIS:

11562/939620

Last Modified:

November 15, 2022

Bibliographic citation:

Masson, Riccardo; Guerra, Silvia; Cerini, Roberto; Pensato, V.; Gellera, C.; Taroni, F.; Simonati, Alessandro, Early white matter involvement in an infant carrying a novel mutation in ACOX1 «EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY» , vol. 20 , n. 3 , 2016 , pp. 431-434

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