Leukodystrophies are a group of genetic diseases with diverse clinical features and prominent involvement of the central nervous system white matter. We describe a 27-year-old man who presented with a progressive neurological disease, and striking involvement of the brainstem and symmetrical white matter lesions on MR scanning. Having excluded several other causes of leukodystrophy, we confirmed Alexander disease when a genetic panel showed a probable pathogenic variant in GFAP: p.Leu359Pro. Clinicians should suspect Alexander disease in people with a progressive neurological motor decline who has pyramidal and bulbar signs and compatible neuroimaging.
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All data relevant to the study are included in the article or uploaded as online supplemental information.
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Contributors DAdO: drafted the main body of the article and performed research of the topic. LCA: provided radiographic consultation and edited figures. ARBdP: edited the article, oversaw the drafting and performed research of the topic. ESdM: head of the medicine team, which was foreseeing the case, provided the valuable insight in the case and oversaw the drafting.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally reviewed by David Lynch, London, UK.