Sen Kuntal, Hicks Melissa A, Huq A H M, Agarwal Rajkumar
Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Detroit, Michigan, United States.
Division of Genetic, Genomic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, United States.
Neuropediatrics. 2019 Apr;50(2):122-125. doi: 10.1055/s-0038-1677514. Epub 2019 Jan 16.
We report a 15-year-old Indian girl born to a consanguineous couple, who presented with epilepsy, developmental delay, neuroregression, and episodes of alternating hemiparesis. In addition, she had one episode of rhabdomyolysis at the age of 7 years. Extensive genetic and metabolic work up through the years was unrevealing. Eventually a trio whole exome sequencing (WES) revealed homozygous single nucleotide variants in gene.
2 related recurrent metabolic crises with encephalomyopathy and cardiac arrhythmias were described very recently and only 15 cases were reported in literature at the time of writing. Alternating hemiplegia of childhood which was seen in our patient, has not been described in previous patients with mutation, and thereby expands the emerging phenotypic spectrum of this novel entity. This report also reiterates the utility of WES in diagnosing newly recognized neurogenetic conditions.
我们报告了一名15岁的印度女孩，其父母为近亲结婚。该女孩出现癫痫、发育迟缓、神经功能倒退以及交替性偏瘫发作。此外，她在7岁时曾有一次横纹肌溶解发作。多年来进行的广泛基因和代谢检查均未发现异常。最终，三联全外显子测序（WES）揭示了该基因中的纯合单核苷酸变异。
最近描述了2例与脑肌病和心律失常相关的复发性代谢危机，在撰写本文时，文献中仅报道了15例。我们的患者中出现的儿童交替性偏瘫，在先前有该突变的患者中未曾描述过，从而扩展了这个新发现疾病的新兴表型谱。本报告还重申了WES在诊断新发现的神经遗传病方面的作用。
