잠시만 기다려 주세요. 로딩중입니다.

전체진유전체염기서열분석에서 동종접합점돌돌변이 EIF2B2유전자이상이 확인된 소멸백질병

A Vanishing White Matter Disease Case with a Homozygous Point Mutation in the EIF2B2 Gene Assessed by the Whole-Exome Sequencing

대한신경과학회지 2021년 39권 1호 p.19 ~ 22
김애령, 박동호, 이종목,
소속 상세정보
김애령 ( Kim Ae-Ryoung ) - Kyungpook National University Hospital Department of Rehabilitation Medicine
박동호 ( Park Dong-Ho ) - Kyungpook National University Hospital Department of Ophthalmology
이종목 ( Lee Jong-Mok ) - Kyungpook National University Hospital Department of Neurology

Abstract


A 30-year-old female patient presented with a progressive gait disturbance, who had been previously diagnosed for cataract and ovarian failure. Brain magnetic resonance imaging showed a high signal intensity of white matter in fluid attenuated inversion recovery and low signal intensity in brain volume imaging, suggesting demyelinating leukodystrophy. Genetic analysis confirmed the pathogenic homozygous mutations c.245T>A in the EIF2B2 gene, which is associated with vanishing white matter disease.

키워드

Leukoencephalopathies; Cataract; Primary ovarian insufficiency

원문 및 링크아웃 정보

등재저널 정보