Combined central and peripheral demyelination in two siblings, immune mediated or genetic?

Autor:	Moodley K; Department of Neurology, University of KwaZulu-Natal, Durban, South Africa Kaminie@live.co.za., Moodley AA; Department of Neurology, University of KwaZulu-Natal, Durban, South Africa., Efthymiou S; Department of Neuromuscular Disorders, UCL, Queen Square Institute of Neurology, London, UK., Houlden H; Department of Neuromuscular Disorders, UCL, Queen Square Institute of Neurology, London, UK., Bill PLA; Department of Neurology, University of KwaZulu-Natal, Durban, South Africa., Patel VB; Department of Neurology, University of KwaZulu-Natal, Durban, South Africa., Rinaldi S; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Jazyk:	angličtina
Zdroj:	Practical neurology [Pract Neurol] 2024 Sep 13; Vol. 24 (5), pp. 422-427. Date of Electronic Publication: 2024 Sep 13.
DOI:	10.1136/pn-2024-004114
Abstrakt:	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. Competing Interests: Competing interests: None declared. (© 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.)
Databáze:	MEDLINE
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