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Scurvy in a child with autism: magnetic resonance imaging and pathological findings
Tetsu Niwa1, Noriko Aida, Yukichi Tanaka
1Departments of Radiology, Kanagawa Children's Medical Center, Mutsukawa, Minami-ku, Yokohama, Japan. tniwa@kcmc.jp
Insights
This case study highlights scurvy in a boy with autism and a poor diet, presenting with walking difficulties. Early diagnosis and vitamin C treatment are crucial for this rare but curable condition.
Area of Science:
- Pediatrics
- Nutritional Science
- Radiology
Background:
- Scurvy, a condition caused by vitamin C deficiency, is rare in developed countries.
- Autism spectrum disorder can be associated with selective eating and nutritional deficiencies.
- Early recognition of scurvy symptoms is essential for prompt treatment.
Observation:
- A 6-year-old boy with autism and an unbalanced diet presented with gait disturbances.
- Imaging revealed bone marrow, periosteal, and muscle abnormalities in the femur.
- Femur biopsy showed signs consistent with vitamin C deficiency, including hematoma and altered collagen.
Findings:
- The case demonstrates subtle but indicative signs of scurvy, including periosteal changes.
- Histopathological findings supported a diagnosis of vitamin C deficiency.
- Magnetic resonance imaging provided valuable insights into the extent of bone and soft tissue involvement.
Implications:
- This case underscores the importance of considering scurvy in pediatric patients with risk factors like restrictive diets.
- Awareness of atypical presentations of scurvy is crucial for clinicians.
- Vitamin C supplementation offers a highly effective treatment for scurvy, preventing long-term complications.
Abstract:
We present a case of scurvy in a 6-year-old boy with autism and an unbalanced diet. The patient was admitted with difficulties in walking. Magnetic resonance imaging findings of the thigh showed diffuse signal abnormality in the bone marrow, periosteum, and the femoral muscle. A biopsy specimen of the femur showed hematoma, proliferative fibroblasts, and few collagen fibers, which suggested a deficiency of vitamin C. Although recurrent periosteal hematoma may be suggestive of scurvy, this finding was subtle in the current case. It is important to be aware of this rare disease because it is easily cured with vitamin C supplementation.
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