Ito Tomoshiro, Narugami Masashi, Egawa Kiyoshi, Yamamoto Hiroyuki, Asahina Naoko, Kohsaka Shinobu, Ishii Atsushi, Hirose Shinichi, Shiraishi Hideaki
Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan.
Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan.
Brain Dev. 2018 Mar;40(3):226-228. doi: 10.1016/j.braindev.2017.11.007.
Alternating hemiplegia of childhood (AHC) is a rare neurological disease mainly caused by mutations in the ATP1A3 gene and showing varied clinical severity according to genotype. Patients with a p.Gly755Ser (p.G755S) mutation, one of minor genotypes for AHC, were recently described as having a mild phenotype, although their long-term outcomes are still unclear due to the lack of long-term follow up. Here, we demonstrate the full clinical course of a 43-year-old female AHC patient with p.G755S mutation. Although her motor dysfunction had been relatively mild into her 30 s, she showed a subsequent severe aggravation of symptoms that left her bedridden, concomitant with a recent recurrence of seizure status. The seizures were refractory to anti-epileptic drugs, but administration of flunarizine improved seizures and the paralysis. Our case suggests that the phenotype of AHC with p.G755S mutation is not necessarily mild, despite such a presentation during the patient's younger years.
儿童交替性偏瘫（AHC）是一种罕见的神经系统疾病，主要由ATP1A3基因突变引起，临床严重程度因基因型而异。携带p.Gly755Ser（p.G755S）突变的患者是AHC的次要基因型之一，最近被描述为具有轻度表型，尽管由于缺乏长期随访，其长期预后仍不清楚。在此，我们展示了一名43岁携带p.G755S突变的女性AHC患者的完整临床病程。尽管她在30多岁时运动功能障碍相对较轻，但随后症状严重加重，导致卧床不起，同时近期癫痫持续状态复发。抗癫痫药物对癫痫发作无效，但给予氟桂利嗪可改善癫痫发作和瘫痪症状。我们的病例表明，携带p.G755S突变的AHC患者的表型不一定是轻度的，尽管患者年轻时有这样的表现。
