Choi Hyoung Won, Raymond Gerald Vincent, Miller Weston
Division of Pediatric Neurology, Department of Neurology, University of Minnesota, Minneapolis, Minnesota, United States.
Division of Pediatric Neurology, Department of Pediatrics and Neurology, Penn State University, Hershey, Pennsylvania, United States.
J Pediatr Neurol. 2020 Apr;18(2):106-109. doi: 10.1055/s-0039-1677805.
X-linked adrenoleukodystrophy (ALD) is a neurodegenerative peroxisomal disorder with variable clinical phenotypes. Childhood cerebral ALD (CCALD) is at the most severe end of the disease spectrum. In CCALD, the clinical manifestations include increasing deficits in behavior, vision, hearing, coordination, and motor function, as well as seizures. Without treatment, CCALD often results in apparent vegetative state within 1 to 2 years of appearance of initial signs and symptoms. We present the case of a boy with classic inflammatory CCALD who exhibited spontaneous attenuation in disease progression. While extremely rare, spontaneous arrest of disease progression may occur in boys with inflammatory CCALD.
X连锁肾上腺脑白质营养不良(ALD)是一种具有多种临床表型的神经退行性过氧化物酶体疾病。儿童脑型ALD(CCALD)处于疾病谱的最严重一端。在CCALD中,临床表现包括行为、视力、听力、协调和运动功能方面日益加重的缺陷,以及癫痫发作。未经治疗,CCALD通常在初始症状和体征出现后的1至2年内导致明显的植物人状态。我们报告了一例患有典型炎症性CCALD的男孩病例,其疾病进展出现了自发缓解。虽然极为罕见,但炎症性CCALD男孩可能会出现疾病进展的自发停止。