Triad of hypovitaminosis A, hyperostosis, and optic neuropathy in males with autism spectrum disorders

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.

KEYWORDS:

• Vitamin A deficiency
• restrictive diets
• autism spectrum disorders
• optic neuropathy
• hyperostosis
• nutrition
• xeropthalmia
• nyctylopia

Disclosure statement

No potential conflict of interest was reported by the author(s).

Data availability statement

All data are available upon request to qualified investigators following IRB authorization.

Additional information

Notes on contributors

Deena Godfrey

Deena Godfrey is in her third year of pediatric neurology residency at the Massachusetts General Hospital for Children. She completed her undergraduate studies at Wesleyan University and completed her medical degree at Boston University School of Medicine.

Robert T. Stone

Robert T. Stone is a pediatric neurologist who cares for children with all neurological disorders. He currently serves as Director of the Pediatric Neuroimmunology and Multiple Sclerosis Program and Director of the UR Leukodystrophy Care Center. He is a graduate of New York University School of Medicine, He went on to study adult and child neurology at the University of Rochester School of Medicine and Dentistry and graduated from residency in June 2011. Since then he has been on faculty at the University of Rochester in the departments of Neurology and Pediatrics. He serves as Director of the Child Neurology Residency Program, and Director of the medical student neurology clerkship. He is Director of the PreDoc program at the University that is a two-year longitudinal experience with the goal of promoting exposure and interest in academic clinical medicine among high school and college-level students from backgrounds that are historically underrepresented in medicine.

Marcus Lee

Marcus Lee is a Clinical Assistant Professor of Pediatric Neurology at the University of Mississippi Medical Center. He completed his undergraduate degree in Mathematics at Millsaps College. Dr Lee completed his medical training at the University of Mississippi and completed residencies in pediatrics and child neurology at the University of Mississippi. He also has a subspecialty certification in Epilepsy.

Tanuja Chitnis

Tanuja Chitnis is the Director of the Mass General Brigham Pediatric MS Center at the Mass General Hospital for Children. She also sees adult patients with MS at the Brigham and Women's Hospital. She completed her medical training at the University of Toronto Medical School, her Neurology residency in Philadelphia, and a fellowship in Multiple Sclerosis and Neuroimmunology at the Brigham and Women's Hospital, Harvard Medical School. Dr Chitnis has had a longstanding interest in Pediatric MS. She is the Chair of the International Pediatric MS Workgroup, and has written many publications and reviews related to multiple sclerosis. She is actively involved in several research projects to help better understand and treat MS in children.

Jonathan D. Santoro

Jonathan D. Santoro serves as the Director of Neuroimmunology and Demyelinating Disorders Program at Children’s Hospital Los Angeles. He is also an Assistant Professor of Neurology at the Keck School of Medicine at the University of Southern California. Santoro completed his undergraduate, masters, and medical degrees at Tulane University. He subsequently completed residencies in pediatrics and child neurology at Stanford University School of Medicine and subsequently had sub-specialty training in neuroimmunology and pediatric multiple sclerosis at Harvard Medical School. Santoro is a passionate clinician-scientist. His clinical and research focus is endocrine dysregulation in pediatric-onset multiple sclerosis and the neuroimmunology of Down syndrome. He currently serves on the American Academy of Neurology’s Health Policy Sub-committee and as the representative of the AAN to the American Medical Association. Santoro is a long-standing advocate for persons with disabilities and has lobbied locally in California and on Capitol Hill.