Tomás Woodgate, Jay Patel, Thomas Day, Brodie Knight, Adriani Spanaki, Alistair Calder, Shahin Moledina, Sadia Quyam
Great Ormond Street Hospital. Royal Hospital for Children. Evelina London Children’s Hospital,
United Kingdom
Pediatrics
Pediatrics 2026;
DOI: 10.1542/peds.2025-073645
Abstract
We report 4 children (aged 3-9 years) with severe pulmonary hypertension (PH) associated with vitamin C deficiency. All presented with either musculoskeletal symptoms or cardiorespiratory deterioration with peripheral edema. Multiple nutritional deficiencies were identified in all children, and 2 had autistic spectrum disorder. Initial echocardiography results demonstrated severe PH with right ventricular dysfunction and significantly elevated N-terminal pro-B-type natriuretic peptide levels. In 2 patients presenting with musculoskeletal symptoms, specialist radiologic review revealed subtle features of scurvy that provided early diagnostic clues before laboratory confirmation. Vitamin C levels were undetectable where samples were processed prior to replacement, highlighting the importance of securing viable samples before treatment initiation for diagnostic certainty. All children received vitamin C replacement therapy, with 3 also receiving concurrent sildenafil. Remarkably, all demonstrated rapid clinical and echocardiographic improvement following vitamin C initiation, with complete resolution within 3 months. Importantly, 1 child receiving sildenafil alone showed no therapeutic response until vitamin C was added, indicating that improvement requires correction of the underlying deficiency rather than pulmonary vasodilation alone. This case series demonstrates rapid reversibility of vitamin C deficiency-associated PH and emphasizes the importance of considering this diagnosis in children with restricted diets and unexplained PH.
Category
Class V. Pulmonary Hypertension Associated with Hematological, Systemic, Metabolic, Nutritional and Other Disorders
Acquired Patient Factors Associated with Pulmonary Vascular Disease
Medical Therapy. Efficacy or Lack of Efficacy
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes