Vitamin C deficiency can result in scurvy, a condition that can mimic a rheumatic disease. In humans the L-gul-ono-γ-lactone oxidase gene prevents coding for the enzyme required to convert glucose to ascorbic acid (vitamin C)1,2. Consequently, humans require exogenous vitamin C. Scurvy can occur in children whose diet is restricted as a consequence of developmental or socioeconomic circumstances3,4. Musculoskeletal and vascular manifestations associated with scurvy can prompt referrals to pediatric rheumatology clinics.
At age 8 years an autistic boy presented with a 3-month history of progressively worsening ankle pain, tenderness, swelling, and warmth and increasingly inflamed and bleeding gingiva. The child’s diet was restricted to a small number of foods and excluded fruits and vegetables.
Examination revealed swollen and friable gingiva (Figure 1) and periarticular soft-tissue swelling involving knees and ankles with associated joint warmth, tenderness, and intraarticular effusions. Blood ascorbic acid level was low (22 μmol; normal 23–114 μmol). Knee radiographs (Figure 2) showed dense calcification of the provisional zones of ossification (line of Frankel).
The constellation of features indicated the diagnosis of scurvy. With oral vitamin C supplementation, gingival and musculoskeletal symptoms and signs resolved.
Scurvy, which is promptly curable with supplemental vitamin C, should be considered in the differential diagnosis of an at-risk child presenting with debilitating musculoskeletal features, particularly when associated with gingival and cutaneous bleeding.
REFERENCES
- 1.
- 2.
- 3.
- 4.