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

Abstract 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 neurol...

Full description

Saved in:
Bibliographic Details
Published in:European journal of paediatric neurology 2016-05, Vol.20 (3), p.431-434
Main Authors: Masson, R, Guerra, S, Cerini, R, Pensato, V, Gellera, C, Taroni, F, Simonati, A., MD
Format: Article
Language:English
Subjects:
ACOX1 disease
Acyl-CoA Oxidase - genetics
Cerebellum
Cerebellum - diagnostic imaging
Child, Preschool
Humans
Infant
Magnetic Resonance Imaging
Male
MRI
Mutation - genetics
Neurology
Pediatrics
Peroxisomal disorders
Seizures - diagnostic imaging
Seizures - genetics
White Matter - diagnostic imaging
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Abstract 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.
ISSN:1090-3798
1532-2130
DOI:10.1016/j.ejpn.2016.02.007