Kirsch Alexandra C, McCall Dana M, Lange Hadley, Renaud Deborah, Brown Tanya, Zaccariello Michael J
NorthShore University HealthSystem, Evanston, Illinois, USA.
Mayo Clinic, Rochester, Minnesota, USA.
Child Neurol Open. 2021 Oct 20;8:2329048X211048614. doi: 10.1177/2329048X211048614. eCollection 2021 Jan-Dec.
Limited information is known about neuropsychological outcomes in Alexander disease, a rare leukodystrophy. Two pediatric cases are summarized. Case 1 (evaluations at 6, 7, 9, and 12 years of age) represents Type I Alexander disease with associated seizures. Case 2 (evaluations at 12, 13, and 16 years of age) represents Type II Alexander disease without additional complications. Case 1 experienced declines in intellectual functioning, visual motor skills, receptive vocabulary, verbal memory, and academic achievement. Case 2 experienced variable neurocognitive change and academic functioning, with average word reading and spelling. Verbal memory also remained intact. Taken together, individuals with Alexander disease may experience cognitive decline to variable degrees. Type I Alexander disease, associated with earlier onset and additional neurological complications, may presage greater cognitive decline than Type II. Due to variability in functioning over time, it is critical to follow individuals across development to make recommendations for educational and treatment planning.
关于罕见的脑白质营养不良——亚历山大病的神经心理学结果，目前所知信息有限。现总结两例儿科病例。病例1（分别在6岁、7岁、9岁和12岁时进行评估）代表伴有癫痫发作的I型亚历山大病。病例2（分别在12岁、13岁和16岁时进行评估）代表无其他并发症的II型亚历山大病。病例1在智力功能、视觉运动技能、接受性词汇、言语记忆和学业成绩方面出现下降。病例2经历了可变的神经认知变化和学业功能变化，单词阅读和拼写能力处于平均水平。言语记忆也保持完好。总体而言，亚历山大病患者可能会在不同程度上出现认知能力下降。与较早发病及其他神经系统并发症相关的I型亚历山大病，可能比II型预示着更严重的认知能力下降。由于功能随时间存在变异性，在个体的整个发育过程中进行跟踪对于制定教育和治疗计划的建议至关重要。
