Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
Nutr Neurosci. 2022 Aug;25(8):1697-1703. doi: 10.1080/1028415X.2021.1892252. Epub 2021 Mar 5.
Persons with autism spectrum disorder (ASD) can have restrictive diets due to stereotyped behaviors. These restrictive diets can manifest with nutritional deficiencies, such as Vitamin A deficiency. The most frequent manifestation of hypovitaminosis A is vision loss secondary to xerophthalmia. Here the authors report six cases of males with a clinical triad of hypovitaminosis A, cranial hyperostosis, and optic neuropathy.
A retrospective case series of six males (ages 5-17 years old) with ASD who presented with several weeks of vision loss and nyctalopia were reviewed.
All six subjects were found to have a barely detectable Vitamin A level (<10 mcg/dL). Three of the six cases had elevated protein (45.9-74.0 mg/dL) in their CSF. MRI imaging demonstrated mild T2 enhancement of bilateral optic nerve sheaths and CT showed diffuse skull hypertrophy. Upon further history collection, all subjects had a very limited food repertoire with major nutritional deficiencies. Subjects were prescribed high doses of vitamin A and most were noted to have improved vision at follow-up, and all had resolution of imaging abnormalities on repeat scans. No common genetic variant was identified in patients with expanded genetic sequencing.
We present a clinical triad of hypovitaminosis A, cranial hyperostosis, and optic neuropathy in six males with ASD. Skull abnormalities and xeropthalmia likely contributed to the development of vision loss.
自闭症谱系障碍（ASD）患者可能由于刻板行为而出现饮食限制。这些饮食限制可能表现为营养缺乏，如维生素 A 缺乏。维生素 A 缺乏症最常见的表现是干眼症引起的视力丧失。本文作者报告了 6 例男性 ASD 患者，其临床表现为维生素 A 缺乏、颅高压和视神经病变三联征。
回顾性分析了 6 例（年龄 5-17 岁）有 ASD 且出现数周视力丧失和夜盲的男性患者的病例系列。
所有 6 例患者的维生素 A 水平均极低（<10 mcg/dL）。6 例中有 3 例 CSF 中蛋白升高（45.9-74.0 mg/dL）。MRI 成像显示双侧视神经鞘轻度 T2 增强，CT 显示弥漫性颅骨肥大。进一步的病史采集显示，所有患者的食物种类都非常有限，存在严重的营养缺乏。给予患者大剂量维生素 A 治疗，随访时发现大多数患者的视力有所改善，且所有患者的影像学异常均在重复扫描时得到缓解。对患者进行扩展基因测序未发现常见的基因突变。
我们提出了 6 例 ASD 男性患者的维生素 A 缺乏、颅高压和视神经病变三联征。颅骨异常和干眼症可能导致视力丧失的发生。
