BACKGROUND 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. METHODS 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. RESULTS 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. CONCLUSIONS 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.

中文翻译：

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伴巴林特症状的儿童脑肾上腺脑白质营养不良的临床评价

背景儿童大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、心理、视觉和步态障碍的进展。这种顽固性疾病的进展只能通过在疾病的早期阶段进行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 儿童进行临床评估，以实现早期诊断。方法 我们招募了 41 名有视觉症状的日本 CCALD 儿童。我们回顾性分析了发病年龄、既往病史、初始症状、视觉症状和脑磁共振成像结果。结果 发病的中位年龄为 7 岁（范围 5-10 岁）。最常见的视觉症状是斜视（n = 22）。只有一名患者患有巴林特综合征的三联征。17 名患者患有不完全性巴林特综合征，并表现出一种或两种三联征症状。几乎所有完全性或不完全性巴林特综合征患者均表现为双侧顶枕部白质病变。结论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，包括缺乏眼神交流或撞到物体时，应考虑 CCALD。s综合征，尤其是不完整的形式。因此，当男孩出现新的症状，包括缺乏眼神交流或撞到物体时，应考虑 CCALD。s综合征，尤其是不完整的形式。因此，当男孩出现新的症状，包括缺乏眼神交流或撞到物体时，应考虑 CCALD。