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A difficult case
Adult-onset Alexander disease with brainstem and cervical cord enhancing lesions
  1. Daniel Alves de Oliveira1,
  2. Luziany Carvalho Araújo2,
  3. Anderson Rodrigues Brandão de Paiva3,4,
  4. Eduardo Sousa de Melo1,5
  1. 1 Department of Neurology, Hospital das Clínicas UFPE / EBSERH, Recife, Brazil
  2. 2 Department of Radiology, Hospital das Clínicas UFPE / EBSERH, Recife, Brazil
  3. 3 Neurogenetics Unit, Neurology Department, Universidade de São Paulo Hospital das Clínicas, Sao Paulo, Brazil
  4. 4 Rare diseases department, Mendelics Genomic Analysis, Sao Paulo, Brazil
  5. 5 Neurology, Universidade Federal de Pernambuco, Recife, Brazil
  1. Correspondence to Dr Daniel Alves de Oliveira, Department of Neurology, Hospital das Clinicas, Recife, 50670-901, Brazil; daniel_oliveira_{at}live.com

Abstract

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.

  • NEUROGENETICS
  • IMAGE ANALYSIS
  • NEURORADIOLOGY
  • SPASTICITY

Data availability statement

All data relevant to the study are included in the article or uploaded as online supplemental information.

https://doi.org/10.1136/pn-2023-003761

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    Data availability statement

    All data relevant to the study are included in the article or uploaded as online supplemental information.

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    Footnotes

    • 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.

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