Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan; Division of Clinical Genetics, Gifu University Hospital, Gifu, Japan.
Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan; Division of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan.
Brain Dev. 2021 Mar;43(3):396-401. doi: 10.1016/j.braindev.2020.11.010. Epub 2020 Dec 11.
Childhood cerebral adrenoleukodystrophy (CCALD) is the most common phenotype of adrenoleukodystrophy (ALD) and is characterized by the progression of intellectual, psychic, visual, and gait disturbances. Progression of this intractable disease can only be prevented by hematopoietic stem cell transplantation during the early stages of the disease. The aim of this study was to clinically evaluate children with CCALD who have visual symptoms to enable early diagnosis.
We enrolled 41 Japanese children with CCALD who had visual symptoms. We retrospectively analyzed age of onset, past medical history, initial symptoms, visual symptoms and findings on brain magnetic resonance imaging.
The median age of disease onset was 7 years (range 5-10 years). The most common visual symptom was strabismus (n = 22). There was only one patient with the triad of symptoms of Balint's syndrome. Seventeen patients had incomplete Balint's syndrome and showed one or two of the triad of symptoms. Almost all patients with complete or incomplete Balint's syndrome showed bilateral parieto-occipital white matter lesions.
CCALD could develop into Balint's syndrome, especially the incomplete form. Therefore, CCALD should be considered when boys show new symptoms, including lack of eye contact or bumping into objects.
儿童脑肾上腺脑白质营养不良（CCALD）是肾上腺脑白质营养不良（ALD）最常见的表型，其特征是智力、精神、视觉和步态障碍逐渐加重。这种难治性疾病只能在疾病早期通过造血干细胞移植来预防。本研究的目的是对有视觉症状的 CCALD 患儿进行临床评估，以便早期诊断。
我们纳入了 41 名有视觉症状的日本 CCALD 患儿。我们回顾性分析了发病年龄、既往病史、首发症状、视觉症状和脑磁共振成像表现。
疾病发病的中位数年龄为 7 岁（范围 5-10 岁）。最常见的视觉症状是斜视（n=22）。仅有 1 名患者有 Balint 三联征的症状。17 名患者有不完全性 Balint 三联征，表现为三联征中的一个或两个症状。几乎所有有完全或不完全 Balint 三联征的患者都有双侧顶枕叶白质病变。
CCALD 可发展为 Balint 综合征，尤其是不完全型。因此，当男孩出现新的症状，包括缺乏眼神接触或撞到物体时，应考虑 CCALD。
