METHODS: Here we report a deceased female patient with CAD deficiency whose epilepsy started at 14 years. She showed a rapid neurologic deterioration including cognitive decline, electroencephalographic background slowing which later evolved to a fatal refractory SE and supra and infratentorial atrophy on neuroimaging. Anemia developed after SE onset.
RESULTS: her post-mortem whole exome sequencing identified biallelic missense variants in CAD (NM_004341.5): c.[2944G > A];[5366G > A] p.[(Asp982Asn)];[(Arg1789Gln)]. Our review of twenty-eight reported cases (2015-2023) revealed an epilepsy age onset from neonatal period to 7 years and the SE prevalence of 46 %.
CONCLUSIONS: With our case, we highlight the relevance of suspecting this treatable condition in older patients and in SE with no evident etiology.
方法:在这里,我们报告了一名患有CAD缺陷的女性患者,其癫痫发作于14岁。她表现出迅速的神经系统恶化,包括认知能力下降,脑电图背景减慢,后来演变成致命的难治性SE和神经影像学上的上和幕下萎缩。SE发作后出现贫血。
结果:她的死后全外显子组测序鉴定了CAD中的双等位基因错义变异(NM_004341.5):c.[2944G>A];[5366G>A]p.[(Asp982Asn)];[(Arg1789Gln)]。我们对28例报告病例(2015-2023年)的审查显示,从新生儿期到7岁的癫痫发作年龄和SE患病率为46%。
结论:在我们的案例中,我们强调了怀疑这种可治疗疾病在老年患者和无明显病因的SE中的相关性.