Case Presentation: A five-year-old boy with autism presented to the hospital with two-months of fatigue, lower extremity pain, and a petechial rash. Review of systems was notable for a two-kilogram weight loss, intermittent gingival bleeding and refusal to walk for one week. On admission he was afebrile with a heart rate of 160 beats per minute, a blood pressure of 93/68 mmHg, and a respiratory rate of 30 breaths per minute with normal oxygen saturation on ambient air. Exam revealed an ill appearing child with normal first and second heart sounds, an S3 gallop, no jugular venous distension and clear lung fields. Pain was elicited on extension of the lower extremities and a non-blanching petechial rash was observed over his buttocks and thighs. Comprehensive metabolic panel, complete blood count, coagulation studies and urinalysis were normal; ESR was 33 mm/hr. He received 60 mL/kg of intravenous fluids with no change in heart rate. He subsequently became acutely hypotensive and hypoxic necessitating oxygen via a non-rebreather facemask and vasopressor support. He was transferred to the intensive care unit. A bedside echocardiogram showed pulmonary hypertension, a severely dilated right ventricle with systolic dysfunction, and elevated right-sided pressures. Lower extremity Doppler ultrasounds and a computed tomography pulmonary angiogram were negative.
Further history revealed that the patient consumed an extremely restricted diet due to oral aversion. Treatment with intravenous ascorbic acid was initiated empirically with immediate improvement in pulmonary arterial pressures, normalization of strength and gait at one week, and complete reversal of right ventricular dysfunction at two weeks. Vitamin C level subsequently resulted as undetectable confirming a diagnosis of scurvy.
Discussion: Scurvy is diagnosed clinically based on dietary history and the characteristic findings of fatigue, impaired immunity, arthralgias, bleeding diatheses and metabolic bone disease. Severe vitamin C deficiency is also a rare cause of acute pulmonary arterial hypertension and reversible right-sided heart failure. Pulmonary arterial vasoconstriction is the result of decreased synthesis of endothelial nitric oxide in the absence of vitamin C leading to inappropriate activation of hypoxia inducible transcription factors. Children with restricted eating patterns related to neuro-developmental and psychiatric disorders are commonly encountered in pediatric hospital medicine and this case highlights the importance of dietary screening for micronutrient deficiencies in this patient population.
Conclusions: Scurvy can present in the developed world in patients with restrictive eating patterns. Hospitalists should be familiar with the clinical signs and symptoms of vitamin C deficiency in order to ensure expeditious diagnosis and treatment of this potentially fatal but easily curable disease.