Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence

Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence

Phosphomannomutase 2 deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. PMM2-CDG patients develop chronic cerebellar atrophy as a neurological hallmark. However, other acute neurological phenomena such as stroke-like episodes (SLE), epilepsy, migraine, and cerebrovascul...

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Bibliographic Details
Main Author: Mercedes Serrano
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-10-01
Series:Frontiers in Pediatrics
Subjects:
channelopathies
congenital disorders of glycosylation
CACNA1A
PMM2-CDG
stroke-like
coma
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.717864/full

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https://www.frontiersin.org/articles/10.3389/fped.2021.717864/full

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