X-linked cerebral adrenoleukodystrophy.

Male Humans Adrenoleukodystrophy / diagnosis Mutation Brain Stem / pathology Magnetic Resonance Imaging Neuroimaging
Neuro genetics Neuroendocrinology Neuroimaging Neurology

Journal

BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291

Informations de publication

Date de publication:
31 Oct 2023
Historique:
pmc-release: 31 10 2025
medline: 2 11 2023
pubmed: 1 11 2023
entrez: 31 10 2023
Statut: epublish

Résumé

A man in his 30s presented with a 6-month history of progressive left face, arm and leg weakness. Medical history included epilepsy and vitamin B

Identifiants

DOI: 10.1136/bcr-2020-237905 PMID: 37907311 PMC: PMC10619069
pubmed: 37907311
pii: 16/10/e237905
doi: 10.1136/bcr-2020-237905
pmc: PMC10619069
pii:
doi:

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Cara Louise Weldrick (CL)

Neurology, University Hospital Limerick, Limerick, Ireland caraweldrick@yahoo.co.uk.

Peter Boers (P)

Neurology, University Hospital Limerick, Limerick, Ireland.

Patrick Kiely (P)

Radiology, University Hospital Limerick, Dooradoyle, Ireland.

Liam O'Halloran (L)

Radiology, University Hospital Limerick, Dooradoyle, Ireland.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › X-linked cerebral adrenoleukodystrophy.
questionsmedicales.fr › Maladies endocriniennes › Maladies des surrénales › Insuffisance surrénale › Adrénoleucodystrophie › X-linked cerebral adrenoleukodystrophy.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › X-linked cerebral adrenoleukodystrophy.
questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Tronc cérébral › X-linked cerebral adrenoleukodystrophy.
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Tomographie › Imagerie par résonance magnétique › X-linked cerebral adrenoleukodystrophy.
questionsmedicales.fr › Techniques d'investigation › Neuroimagerie › X-linked cerebral adrenoleukodystrophy.