Jagadish Spoorthi, Calhoun Amy R U L, Ganganna Sreenath Thati
Division of Child Neurology, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA.
Division of Medical Genetics & Genomics, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA.
Epilepsy Behav Rep. 2024 Feb 6;25:100652. doi: 10.1016/j.ebr.2024.100652. eCollection 2024.
Behr syndrome is associated with compound heterozygous dysfunction in gene and typically presents with a constellation of visual impairment due to early onset optic atrophy, cerebellar ataxia, peripheral neuropathy, deafness, and gastrointestinal motility problems. Our patient with biallelic variants in gene had delayed motor milestones, cerebellar ataxia, and optic atrophy in infancy. At the age of 7 years, he presented with recurrent episodes of super-refractory status epilepticus and metabolic stroke due to underlying mitochondrial dysfunction associated with gene dysfunction. Besides the two rare prior case reports of focal and myoclonic seizures in patients with Behr syndrome, epilepsy in general is not well described in the typical phenotypic spectrum and to the best of our knowledge. Dramatic clinical presentation with recurrent super-refractory status epilepticus and metabolic stroke has not been reported previously. There is only one prior report of metabolic stroke in a patient with Behr syndrome due to gene dysfunction.
贝赫综合征与该基因的复合杂合功能障碍相关，通常表现为一系列视觉障碍，这是由于早发性视神经萎缩、小脑共济失调、周围神经病变、耳聋和胃肠动力问题所致。我们这位携带该基因双等位基因变异的患者在婴儿期出现运动发育迟缓、小脑共济失调和视神经萎缩。7岁时，由于与该基因功能障碍相关的潜在线粒体功能障碍，他出现了反复的超难治性癫痫持续状态和代谢性中风。除了之前两例关于贝赫综合征患者局灶性和肌阵挛性发作的罕见病例报告外，据我们所知，癫痫在典型表型谱中总体描述不佳。此前尚未报道过反复出现超难治性癫痫持续状态和代谢性中风的戏剧性临床表现。仅有一份先前的报告称，一名贝赫综合征患者因该基因功能障碍出现代谢性中风。
