神经化学
神经化学
脑病
癫痫
医学
磁共振成像
体内磁共振波谱
星形胶质增生
病理
内科学
神经科学
心理学
神经学
中枢神经系统
放射科
作者
Kentaro Sano,Fuyuki Miya,Mitsuhiro Kato,Taku Omata,Jun‐ichi Takanashi
标识
DOI:10.1016/j.braindev.2023.07.003
摘要
Mutations in the FBXO28 gene, which encodes FBXO28, one of the F-box protein family, may cause developmental and epileptic encephalopathy (DEE). FBXO28-related DEE is radiologically characterized by cerebral atrophy, delayed/abnormal myelination, and brain malformation; however, no neurochemical analyses have been reported.A female Japanese infant presented with severe psychomotor delay, epileptic spasms, and visual impairment. Whole-exome sequencing revealed a de novo variant of the FBXO28 gene, leading to the diagnosis of FBXO28-related DEE. Magnetic resonance (MR) spectroscopy at 6, 12, and 32 months revealed decreased N-acetylaspartate and choline-containing compounds and increased levels of myoinositol.MR spectroscopy revealed neurochemical derangement in FBXO28-related DEE, that is, disturbed myelination secondary to neuronal damage with astrogliosis.
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