Triad of hypovitaminosis A, hyperostosis, and optic neuropathy in males with autism spectrum disorders. (3rd August 2022)

• Record Type: Journal Article
• Authors: Godfrey, Deena; Stone, Robert T.; Lee, Marcus; Chitnis, Tanuja; Santoro, Jonathan D.
• Is Part Of: Nutritional neuroscience. Volume 25:Number 8(2022)
• Page Start: 1697
• Page End: 1703
• Publication Date: 2022-08-03
• Subjects: Vitamin A deficiency -- restrictive diets -- autism spectrum disorders -- optic neuropathy -- hyperostosis -- nutrition -- xeropthalmia -- nyctylopia; Neuropharmacology -- Periodicals; Diet -- Periodicals; Diet therapy -- Periodicals; Nutrition -- Periodicals; 615.78
• DOI: 10.1080/1028415X.2021.1892252
• Languages: English
• ISSNs: 1028-415X

Abstract

ABSTRACT: Background: 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. Methods: 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. Results: 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. Conclusions: 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.