(38) Scurvy and new onset pulmonary hypertension in a tube-fed nine-year-old boy

Background: A 9-year-old non-verbal boy with congenital CMV, spastic quadriplegia, Lennox-Gastaut syndrome with G-tube dependence on a ketogenic diet presented with pallor, weak pulses, and decreased urine output over 24 hours. He had been diagnosed with pulmonary hypertension (PHTN) of unclear etiology three months prior, and was discharged on furosemide which had been weaned off five days prior to presentation. He also had at least six months of hip pain resulting in bilateral hip surgery five months prior.

Objectives: Physical Exam: Afebrile, heart rate 151 beats/min, respiratory rate 32 breaths/min, blood pressure 129/85 with normal saturations. Weight is 19.9kg. Alert, agitated, crying. Skin mottled and cool. Radial pulses 1+, posterior tibial pulses barely palpable.

Design/Methods: Diagnostic Evaluation: Echocardiogram showed significantly worsened PHTN with systemic to suprasystemic right ventricular systolic pressures, and reduced cardiac function. Hemoglobin 10.6. Lactate 4.8. Creatinine 0.28, bicarbonate 12, albumin 3.3. PHTN workup included consults with genetics, metabolism, rheumatology, infectious disease, pulmonary, cardiology without discovery of underlying etiology. Given ongoing hip pain, left hip MRI and abdominal/pelvis CT revealed L4 compression fracture, widespread myositis, right hip subperiosteal fluid collections. Biopsies revealed no signs of infection or malignancy. Gingival hyperplasia with bleeding on day 4, along with loose frontal incisor, perifollicular rash. Vitamin C level sent, returned < 5 µmol/L (reference range 23-114 µmol/L).

Results: Diagnosis: Severe vitamin C deficiency. Supplementation with high dose enteral Vitamin C showed resolution of gum hyperplasia, bleeding.

Conclusion: Up to 80% of patients with vitamin C deficiency present with some form of myalgia, arthralgia, and severe scurvy can cause poor wound healing, gingival bleeding, perifollicular hemorrhage, osteopenia, and in some cases PHTN. In patients with complex medical needs and a limited ability to communicate, these symptoms can often be missed or attributed to other preexisting medical conditions or treatments.

This patient presented multiple times over five months for severe agitation, emesis, sudden onset PHTN and gingival hyperplasia. A definitive diagnosis was not reached until gingival bleeding occurred in the hospital. Clinicians should maintain a lower threshold for vitamin deficiencies in patients with atypical diets. Vitamin C deficiency should be included on the differential of new onset and unexplained PHTN.