Systemic Capillary Leak Syndrome With Cerebral Involvement in a
Journal
Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068
Informations de publication
Date de publication:
Aug 2023
Aug 2023
Historique:
received:
06
04
2023
accepted:
08
05
2023
medline:
19
6
2023
pubmed:
19
6
2023
entrez:
19
6
2023
Statut:
epublish
Résumé
Systemic capillary leak syndrome (SCLS) is a rare condition associated with episodes of hypotension, hemoconcentration, hypoalbuminemia, and rhabdomyolysis. We describe a middle-aged man presenting with several distinct SCLS-like episodes, the last being fatal. In addition, in the year before the final event, he developed rapid cognitive decline with contrast-enhancing lesions on MRI and highly elevated neurofilament light protein levels in CSF. Data and imaging were obtained from patient medical records. At the time, the SCLS-like episodes were interpreted as myositis secondary to viral infection. A thorough workup for other causes, including genetic testing, was negative. As for the rapid cognitive decline, despite an extensive workup for infectious and inflammatory causes, no definitive diagnosis was made. Whole genome sequencing however identified a The
Identifiants
pubmed: 37334257
doi: 10.1212/NXG.0000000000200081
pii: NXG-2023-000139
pmc: PMC10275405
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e200081Informations de copyright
Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
Déclaration de conflit d'intérêts
The authors report no relevant disclosures. Go to Neurology.org/NG for full disclosures.
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