Hashimoto Aya, Kuki Ichiro, Fukuoka Masataka, Kim Kiyohiro, Inoue Takeshi, Nukui Megumi, Okazaki Shin, Kawawaki Hisashi, Nakamura Yuji, Saitoh Shinji
Department of Pediatric Neurology, Osaka City General Hospital, Osaka, Japan.
Department of Pediatric Neurology, Osaka City General Hospital, Osaka, Japan.
Brain Dev. 2019 Aug;41(7):625-629. doi: 10.1016/j.braindev.2019.03.003. Epub 2019 Mar 20.
Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome is a known ATP1A3-related disorder, but little has been elucidated regarding its pathophysiology. We now report two new patients, a Japanese boy and his mother with a pathogenic mutation (c.2452G>A) in ATP1A3, who were diagnosed with CAPOS syndrome.
After febrile illnesses at 7 months of age, and again at 22 months of age, the boy had a reduced level of consciousness, truncal ataxia and eye movement-disorders. The patient's 32-year-old mother may have experienced an episode of acute encephalopathy in her childhood and sustained sensorineural hearing loss. In the present study, we demonstrated chronological dynamic changes in cerebral blood flow (CBF) in the son, using serial single-photon emission computed tomography (SPECT).
The serial CBF-SPECT findings using statistical methods showed progressive hyperperfusion in the frontal lobes, basal ganglia and thalamus, and hypoperfusion in the occipital and temporal lobes during the acute and subacute phases. Thereafter, the dynamic changes of CBF improved in the chronic but hypoperfusion in thalamus appeared to the chronic phase.
The abnormal cortico-subcortical CBF may contribute to an acute encephalopathy-like condition in the acute stage of CAPOS syndrome. CAPOS syndrome is not often reported, and is possibly an under-recognized syndrome in clinically mild cases.
小脑共济失调、无反射、高弓足、视神经萎缩和感音神经性听力丧失（CAPOS）综合征是一种已知的与ATP1A3相关的疾病，但其病理生理学仍知之甚少。我们现报告两名新患者，一名日本男孩及其母亲，他们的ATP1A3基因存在致病性突变（c.2452G>A），被诊断为CAPOS综合征。
该男孩在7个月大时患发热性疾病后，22个月大时再次患病，出现意识水平下降、躯干共济失调和眼球运动障碍。患者32岁的母亲童年时可能经历过一次急性脑病发作，并持续有感音神经性听力丧失。在本研究中，我们使用系列单光子发射计算机断层扫描（SPECT）展示了该男孩脑血流量（CBF）随时间的动态变化。
采用统计方法的系列CBF-SPECT检查结果显示，在急性期和亚急性期，额叶、基底神经节和丘脑出现进行性高灌注，枕叶和颞叶出现低灌注。此后，CBF的动态变化在慢性期有所改善，但丘脑低灌注在慢性期仍存在。
皮质-皮质下CBF异常可能导致CAPOS综合征急性期出现类似急性脑病的状况。CAPOS综合征报道较少，在临床症状较轻的病例中可能未被充分认识。
