Vitamin C Deficiency in a 24-Year-Old Male Resulting in Anemia From Hematuria and Impaired Erythropoiesis Requiring Multiple Transfusions.

Vitamin C deficiency, or scurvy, is an often-overlooked nutritional disorder in modern clinical practice, particularly in high-income countries, such as the United States. It is most commonly associated with food insecurity, poverty, and generalized malnutrition. However, this case underscores an equally important yet less recognized risk factor: autism spectrum disorder (ASD). Individuals with ASD are at high risk given their sensory sensitivities and food selectivity, and frequently exhibit restricted dietary patterns that limit their nutritional intake. We present the case of a 24-year-old male with a known diagnosis of ASD who was admitted with symptomatic anemia, hematuria, spontaneous bruising, and mucosal bleeding. Initial workup revealed severe normocytic anemia with poor reticulocyte response and evidence of renal dysfunction, necessitating multiple transfusions. Physical examination findings, which included perifollicular hemorrhage and corkscrew hairs, and a detailed dietary history revealed a highly restricted intake. His serum vitamin C level was subsequently found to be undetectable. After several days of vitamin C supplementation and multiple transfusions, the patient showed significant clinical improvement, with resolution of hematuria and normalization of hemoglobin levels on follow-up. This case illustrates the diagnostic challenges posed by micronutrient deficiencies presenting with nonspecific and severe clinical manifestations, such as anemia, hematuria, and renal dysfunction. It also reinforces the importance of considering atypical etiologies in patients with developmental disorders, particularly those with restrictive eating behaviors. Early dietary assessment and nutritional screening should be integral components of care for patients with ASD, especially when clinical presentations are unexplained or involve bleeding, bruising, or fatigue.