SHM Converge Scientific Abstract ePoster Gallery-Anemia, Rash, and Photosensitivity: What's the Common Link?

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A 10-year-old boy with autism was evaluated for recurrent anemia, rash, eye redness/light sensitivity, and weight loss. He had previously been hospitalized for severe iron-deficiency anemia due to bleeding gastric ulcers, which later resolved, but anemia recurred without evidence of active bleeding. Over two months, he developed a papular rash on the extremities and face, mild periorbital swelling, and photophobia. Further history revealed a highly restrictive diet consisting mainly of French fries, bread, and oranges.<br /><br />During admission, his exam showed a thin child with an erythematous papular rash on the arms and legs. Workup excluded ongoing GI bleeding, malignancy, autoimmune disease, and bone marrow failure. Labs revealed multiple micronutrient deficiencies, including very low vitamin A, zinc, copper, and carnitine, with low-normal vitamin E and other nutritional abnormalities. Dermatology diagnosed the rash as phrynoderma, a follicular hyperkeratosis associated with nutritional deficiency. Prior esophageal biopsy showing hyperkeratosis/parakeratosis was also consistent with vitamin deficiency.<br /><br />The final diagnosis was severe malnutrition with multiple symptomatic micronutrient deficiencies, especially vitamin A deficiency. Vitamin A deficiency likely explained his eye symptoms, anemia, and skin findings, while other deficiencies contributed to the hematologic abnormalities. He was treated with vitamin supplementation (A, C, zinc, copper, B1, D) and nutritional support. With treatment, his hemoglobin improved to 11.5 within two months, his rash improved, and his weight increased.<br /><br />The case highlights how restrictive eating in children with autism can cause profound malnutrition and multiple seemingly unrelated symptoms. It also emphasizes the importance of taking a detailed dietary history and considering a unifying nutritional diagnosis when recurrent anemia, rash, and ocular symptoms occur together.

Asset Subtitle

Stephanie R. Moss

Meta Tag

Author List Kaitlyn Stanfield, Stephanie R. Moss

Category Clinical Vignettes

Concept Micronutrient Deficiency

Concept Anemia

Concept Vitamin A Deficiency

Concept Restrictive Eating

Concept Phrynoderma

Distinguished Non-Finalist

Presenter Organization The Cleveland Clinic Foundation

Presenting Author Stephanie R. Moss

Track Pediatric

Keywords

autism

severe malnutrition

vitamin A deficiency

recurrent anemia

phrynoderma

micronutrient deficiencies

restrictive diet

photophobia

rash

weight loss

Micronutrient Deficiency

Anemia

Vitamin A Deficiency

Restrictive Eating

Phrynoderma