Sasaki Masayuki, Ishii Atsushi, Saito Yoshiaki, Hirose Shinichi
Department of Child Neurology National Center of Neurology and Psychiatry Kodaira Tokyo Japan.
Department of Pediatrics and Central Research Institute for the Molecular Pathomechanisms of Epilepsy Fukuoka University School of Medicine Fukuoka Japan.
Mov Disord Clin Pract. 2017 Jan 5;4(3):406-411. doi: 10.1002/mdc3.12451. eCollection 2017 May-Jun.
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder that includes involuntary movements, paroxysmal symptoms, and various severities of nonparoxysmal symptoms.
To investigate the occurrence of structural brain abnormalities in patients with AHC during clinical courses.
Conventional brain magnetic resonance imaging findings and clinical courses were retrospectively investigated in 14 patients with AHC confirmed by mutations.
Progressive frontal dominant cerebral, diffuse cerebellar cortical, and severe hippocampal atrophy were observed in seven patients with irreversible severe motor and intellectual deterioration. All of these seven patients exhibited status epilepticus and required transient respiratory care. Isolated diffuse cerebellar cortical atrophy was observed in two adult patients with mild motor regression. Five patients without apparent deterioration displayed almost normal brain findings.
The areas of atrophy were consistent with the areas of increased expression of the Na/K-ATPase α3 subunit encoded by . Some of paroxysmal and nonparoxysmal neurological symptoms are considered as related to the areas of brain atrophy.
儿童交替性偏瘫（AHC）是一种罕见的神经发育障碍，包括不自主运动、发作性症状以及各种严重程度的非发作性症状。
研究AHC患者在临床病程中脑结构异常的发生情况。
回顾性研究14例经突变证实的AHC患者的常规脑磁共振成像结果及临床病程。
在7例出现不可逆严重运动和智力衰退的患者中观察到进行性额叶为主的脑萎缩、弥漫性小脑皮质萎缩和严重海马萎缩。这7例患者均出现癫痫持续状态，需要短暂呼吸支持。在2例有轻度运动功能减退的成年患者中观察到孤立性弥漫性小脑皮质萎缩。5例无明显病情恶化的患者脑成像结果基本正常。
萎缩区域与由……编码的Na/K-ATP酶α3亚基表达增加的区域一致。一些发作性和非发作性神经症状被认为与脑萎缩区域有关。
