Abstract：
BACKGROUND: 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.
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.
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.
摘要：
背景：FBXO28基因的突变，它编码FBXO28，F-box蛋白家族之一，可能导致发育性和癫痫性脑病（DEE）。FBXO28相关的DEE在放射学上以脑萎缩为特征，延迟/异常髓鞘形成，和大脑畸形；然而，没有神经化学分析报告.
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。
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。
