Journal article
Combined central and peripheral demyelination in two siblings, immune mediated or genetic?
- Abstract:
- We report unusual cases of combined central and peripheral demyelination in two siblings related to pregnancy, each presenting with progressive tetraparesis and cranial nerve palsies. The elder sister had a relapsing-remitting course with optic nerve dysfunction and died during a relapse from respiratory insufficiency. The younger sister presented with disorientation and acute-onset limb and facial weakness. She responded well to corticosteroid therapy. Their clinical presentation, response to immunomodulatory therapy, nerve conduction studies, cerebrospinal fluid and histology supported an acquired demyelinating cause. Whole-exome sequencing identified variants in two genes not previously linked to this clinical phenotype. Serological tests for antibody-mediated demyelination were negative. Despite the undefined pathogenesis, these cases provide a platform to explore the confluence of genetic, immune and environmental factors in the context of acquired demyelination. We discuss the differential diagnosis and a diagnostic approach to such cases from the perspectives of neuroimmunology and neurogenetics.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Version of record, pdf, 908.6KB, Terms of use)
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- Publisher copy:
- 10.1136/pn-2024-004114
Authors
+ Wellcome Trust
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- Funder identifier:
- https://ror.org/029chgv08
- Grant:
- MR/S01165X/1
- Publisher:
- BMJ Publishing Group
- Journal:
- Practical Neurology More from this journal
- Volume:
- 24
- Issue:
- 5
- Pages:
- 422-427
- Place of publication:
- England
- Publication date:
- 2024-07-03
- Acceptance date:
- 2024-05-01
- DOI:
- EISSN:
-
1474-7766
- ISSN:
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1474-7758
- Pmid:
-
38960597
- Language:
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English
- Pubs id:
-
2015325
- Local pid:
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pubs:2015325
- Deposit date:
-
2025-02-14
- ARK identifier:
Terms of use
- Copyright holder:
- Moodley et al
- Copyright date:
- 2024
- Rights statement:
- © Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial.
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