• Ting Su, Haijun Yuan, Wei Gao, Huaxin Li, and Mei Yuan.
• Department of Neurology, the Second Hospital, University of South China, Hengyang, Hengyang, Hunan, China.
• J Coll Physicians Surg Pak. 2022 Dec 1; 32 (12): SS181SS183SS181-SS183.

AbstractVanishing white matter disease (VWMD) is an autosomal recessive genetic disease characterised by progressive loss of white matter in both cerebral hemispheres. VWMD is caused by mutations in eukaryotic translation initiation factor 2B (EIF2B). The disease typically occurs in children. Ovarioleukodystrophies disease (OLD) is a special type of adult VWMD, associated with primary ovarian insufficiency. Herein, we report an adult woman with VWMD who had a novel EIF2B4 mutation. A 27-year woman presented with complaints of intermittent movement disorder of both upper extremities for 5 years and walking instability for 1 year. She had primary amenorrhea and infertility, low sex hormones, and a primordial uterus. MRI showed progressive loss of white matter in the brain. Whole-exome sequencing showed a novel EIF2B4 gene mutation: c.1441 (exon13) T>C. Therefore, a diagnosis of OLD, a special type of adult VWMD, was established. To our knowledge, this is a novel mutation and has not been reported till date. This report extends the mutation spectrum and phenotypic heterogeneity of VWMD. Key Words: Vanishing White matter, EIF2B, Primary ovarian insufficiency.

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