Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia.

ABSTRACT:

Background

Vanishing white matter disease (VWMD) is one of the most prevalent inherited leukoencephalopathies, which generally presents in childhood as a progressive disorder while less beginning in adulthood. The present report describes the clinical, neuroimaging, and genetic findings of a female patient with adult-onset VWMD. In addition, to provide a clearer delineation of the clinical and genetic characteristics of female adult-onset VWMD patients, 32 genetically confirmed female adult-onset EIF2B-mutated cases are summarized.

Case presentation

The patient described here suffered from long-term menometrorrhagia prior to manifesting progressive neurological impairments that included tremors, bilateral pyramidal tract injury, cerebellar ataxia, and dementia. To the best o

SUBMITTER: Wei C 

PROVIDER: S-EPMC6704498 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature