{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T19:45:47Z","timestamp":1790279147778,"version":"4.1.0"},"reference-count":15,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T00:00:00Z","timestamp":1769731200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Reports"],"abstract":"<jats:p>Background and Clinical Significance: Scurvy, caused by chronic vitamin C deficiency, is re-emerging in Western countries, particularly among pediatric patients with highly selective diets. While its musculoskeletal and mucocutaneous manifestations are well-known, its association with pulmonary arterial hypertension (PAH) is rare and poorly understood. Ascorbic acid and iron are essential cofactors for prolyl hydroxylases (PHD), which regulate Hypoxia-Inducible Factors. Their combined deficiency may trigger a \u201cpseudohypoxic\u201d state, leading to pulmonary vascular remodeling and vasoconstriction. Case Presentation: A 30-month-old female presented with a one-month history of limping, lower limb pain, and gingival hypertrophy. Dietary history revealed an almost exclusive cow\u2019s milk-based intake. Physical examination showed diffuse petechiae, pallor, and right knee edema. Laboratory findings confirmed scurvy (undetectable vitamin C), severe iron-deficiency anemia (Hb: 72 g\/L; ferritin: 22 mcg\/L; RDW: 30%), folate deficiency, and hyperhomocysteinemia. Notably, elevated copper and vitamin B12 levels suggested a state of metabolic dysregulation. Echocardiography revealed moderate PAH phenotype (estimated sPAP: 47\u201350 mmHg) and a hyperdynamic contractility. A \u201cperfect storm\u201d mechanism was hypothesized, involving iron\u2013ascorbate-dependent PHD impairment, high-output state, and oxidative-stress-induced hepcidin dysregulation (suggested by elevated copper). Following intravenous vitamin C and multivitamin supplementation, pulmonary pressures normalized within one week. Conclusions: PAH phenotype in scurvy represents a reversible metabolic disruption of pulmonary vascular tone rather than a structural disease. This case underscores the synergistic role of vitamin C, iron, and folate in vascular homeostasis. Clinicians should maintain high suspicion for scurvy in children with selective diets and unexplained PAH, as nutritional restoration is curative.<\/jats:p>","DOI":"10.3390\/reports9010044","type":"journal-article","created":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T08:19:38Z","timestamp":1769761178000},"page":"44","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Rare Case of Reversible Pulmonary Hypertension Phenotype in a Child with Scurvy: Aetiologies Insights"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-8250-6653","authenticated-orcid":false,"given":"Mattia","family":"Pasquinucci","sequence":"first","affiliation":[{"name":"Department of Pediatrics, AULSS 7 Pedemontana-San Bassiano Hospital, 36061 Bassano del Grappa, Italy"},{"name":"Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini, 16100 Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Bonsembiante","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, AULSS 7 Pedemontana-San Bassiano Hospital, 36061 Bassano del Grappa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Mezzalira","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, AULSS 7 Pedemontana-San Bassiano Hospital, 36061 Bassano del Grappa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Locallo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Padua, 35100 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-2893-3868","authenticated-orcid":false,"given":"Davide","family":"Meneghesso","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, AULSS 7 Pedemontana-San Bassiano Hospital, 36061 Bassano del Grappa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,1,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"20241086","DOI":"10.1515\/med-2024-1086","article-title":"Scurvy, a not obsolete disorder: Clinical report in eight young children and literature review","volume":"20","author":"Finocchiaro","year":"2025","journal-title":"Open Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2118907","DOI":"10.1155\/carm\/2118907","article-title":"Forgotten Deficiency: A Case Series Highlighting Atypical Presentations of Scurvy in the 21st Century","volume":"2025","author":"Ayyad","year":"2025","journal-title":"Case Rep. 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J."}],"container-title":["Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2571-841X\/9\/1\/44\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T08:43:52Z","timestamp":1769762632000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2571-841X\/9\/1\/44"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,30]]},"references-count":15,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,3]]}},"alternative-id":["reports9010044"],"URL":"https:\/\/doi.org\/10.3390\/reports9010044","relation":{},"ISSN":["2571-841X"],"issn-type":[{"value":"2571-841X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,30]]}}}