Case Presentation: An 11 year old male with nonverbal autism, complex partial epilepsy, and repaired coarctation of the aorta presented with failure to bear weight, rash, and easy bruising. Family history was positive for rheumatoid arthritis. The patient’s diet was limited due to food selectivity. Physical exam was significant for bilateral hip pain and petechiae of the lower extremities, arms, and abdomen. Labs revealed elevated inflammatory markers, anemia, hypoalbuminemia, elevated alkaline phosphatase, and a coagulopathy. Plain films of the lower extremities were normal. Sedated hip MRI revealed scattered areas of bone marrow enhancement in the sacroiliac joints, hip joints, and proximal femur with surrounding myositis but no synovitis or abscess; concerning for inflammatory or malignant process. While sedated, the patient became bradycardic and required several code doses of epinephrine. The bradycardia was hypothesized to result from intravascular fluid depletion paired with anesthesia-induced vasodilation. However, after fluid resuscitation, the patient developed an intermittent oxygen requirement in the setting of persistent lower extremity pain and worsening hypoalbuminemia, transaminitis, and coagulopathy. Bone marrow biopsy showed reactive changes but no evidence of malignancy. Chest CT revealed a very large right-sided pleural effusion causing mass effect and volume loss of the right lung, as well as a trace left-sided pleural effusion and bilateral airspace disease. He was taken to surgery for chest tube placement (using an alternate form of anesthesia) and diagnostic pleurocentesis but unfortunately experienced another bradycardic arrest. Return of spontaneous circulation was not achieved. Autopsy was non-diagnostic. Vitamin C level resulted as undetectable.
Discussion: Vitamin C (ascorbic acid) is involved in a number of biologic processes including collagen, neurotransmitter, and nitric oxide synthesis; prostaglandin metabolism; and iron absorption. Deficiency of this essential vitamin can therefore result in cutaneous signs (ie: petechiae, perifollicular hemorrhage, bruising, and gingivitis), impaired wound healing, bone marrow changes, anemia, systemic inflammatory response syndrome, and vasomotor instability. Sudden death has been reported. At risk populations for vitamin C deficiency include those living in poverty, substance abusers, the elderly, chronically ill patients, and children with autism spectrum disorder who have a highly selective diet devoid of fruits and vegetables. The treatment is vitamin C supplementation.
Conclusions: Vitamin C deficiency is rare in the United States and can be fatal. This disease process should be kept on the differential diagnosis for patients with restrictive diets who present with petechial rash, anemia, and arthralgia. Bone marrow changes may resemble inflammatory or malignant conditions. Less common features include multisystem organ failure and vasomotor instability. Vitamin C supplementation should be provided in a timely manner.