Neonatal purpura fulminans as a presentation of congenital protein C deficiency

• Autores: Campano Cornejo, J. William, Atamari-Anahui, Noé
• Formato: artículo
• Fecha de Publicación: 2025
• Institución: Universidad Nacional Mayor de San Marcos
• Repositorio: Revistas - Universidad Nacional Mayor de San Marcos
• Lenguaje: español
• OAI Identifier: oai:revistasinvestigacion.unmsm.edu.pe:article/30285
• Enlace del recurso: https://revistasinvestigacion.unmsm.edu.pe/index.php/anales/article/view/30285
• Nivel de acceso: acceso abierto
• Materia: Protein C; Purpura Fulminans; Thrombophilia; Newborn; Child; Proteína C; Púrpura Fulminante; Trombofilia; Recién Nacido; Niño

Neonatal purpura fulminans is a rare disease. Diagnosis is a challenge during the first days of life. We report a newborn who presented distal ecchymotic lesions with rapid progressive extension in the first hours of life. A deficiency of protein C or S was suspected. The genetic study reported two variants of the PROC gene (c.303C>A; c.400+5G>C) confirming the diagnosis of congenital deficiency of protein C. Supportive therapy with fresh frozen plasma and anticoagulation with low molecular weight heparin was provided. During follow-up, the patient presented amputation of the affected limbs, retinal detachment and cerebral ischemia. Congenital protein C deficiency requires timely diagnosis, and specialized management is important to prevent complications of this disease.