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Progressive hemiparesis reveals X-linked adrenoleukodystrophy in a 3.5-year-old boy

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El Kosseifi, Charbel [UCL] Seddiki, Karima Dumitriu, Dana Ioana [UCL] Nassogne, Marie-Cécile [UCL]

(eng) X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the ABCD1 gene, encoding the transmembrane ALDP protein and is characterized by progressive nervous system demyelination and adrenal gland dysfunction. While several phenotypes were described in boys and females, the two most important ones include childhood cerebral ALD (CCALD) and adult onset adrenomyeloneuropathy in males. CCALD classically occurs in boys, at 6–9 years of age, presenting with mild neurological or psychiatric signs, with a decline in cognitive performance and school achievement. [...]

Type de document Article de périodique (Journal article) – Article de recherche
Type d'accès Accès libre
Année de publication 2021
Langue Anglais
Information sur le périodique "Acta Neurologica Belgica" - Vol. 121, no. 1, p. 261-263 (2021)
Peer reviewed oui
Editeur Springer ((Italy) Milano)
issn 0300-9009
e-issn 2240-2993
Statut de la publication Publié
Affiliations UCL - SSS/IONS/NEUR - Clinical Neuroscience
UCL - SSS/IREC/SLUC - Pôle St.-Luc
UCL - (SLuc) Service de radiologie
UCL - (SLuc) Service de neurologie pédiatrique
Mots-clés Clinical Neurology ; General Medicine
Liens
Référence bibliographique El Kosseifi, Charbel ; Seddiki, Karima ; Dumitriu, Dana Ioana ; Nassogne, Marie-Cécile. Progressive hemiparesis reveals X-linked adrenoleukodystrophy in a 3.5-year-old boy. In: Acta Neurologica Belgica, Vol. 121, no. 1, p. 261-263 (2021)
Permalien http://hdl.handle.net/2078.1/227818