METHODS: 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.
CONCLUSIONS: MR spectroscopy revealed neurochemical derangement in FBXO28-related DEE, that is, disturbed myelination secondary to neuronal damage with astrogliosis.
方法:一名日本女性婴儿出现严重的精神运动延迟,癫痫性痉挛,和视力障碍。全外显子组测序揭示了FBXO28基因的从头变体,导致FBXO28相关DEE的诊断。在6、12和32个月的磁共振(MR)光谱显示,N-乙酰天冬氨酸和含胆碱的化合物减少,肌醇水平升高。
结论:MR波谱显示FBXO28相关DEE的神经化学紊乱,也就是说,继发于星形胶质细胞增生的神经元损伤的髓鞘形成紊乱。