Early white matter involvement in an infant carrying a novel mutation in ACOX1.
Eur J Paediatr Neurol
; 20(3): 431-4, 2016 May.
Article
en En
| MEDLINE
| ID: mdl-26965209
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Convulsiones
/
Acil-CoA Oxidasa
/
Sustancia Blanca
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Child, preschool
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Eur J Paediatr Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2016
Tipo del documento:
Article
País de afiliación:
Italia