Congenital Protein C Deficiency Presenting as Neonatal Purpura Fulminans: A Report of Two Cases

TL;DR

Two newborns with severe protein C deficiency developed neonatal purpura fulminans and died despite treatment, highlighting the need for early diagnosis and genetic counseling.

Contribution

The paper adds two rare cases of hereditary protein C deficiency presenting as neonatal purpura fulminans.

Findings

Both neonates had protein C activity of 4-8%, far below the normal neonatal range.

Despite treatment with FFP, heparin, and supportive care, both infants died from DIC and sepsis.

The cases emphasize the importance of genetic counseling and improved neonatal critical care.

Abstract

Purpura fulminans (PF) is a rare, life-threatening thrombotic disorder characterized by progressive cutaneous hemorrhagic necrosis and disseminated intravascular coagulation (DIC). Neonatal PF may result from homozygous or compound heterozygous deficiencies in natural anticoagulants, such as protein C, protein S, or antithrombin III, or secondary to sepsis. Laboratory findings typically show consumptive coagulopathy with thrombocytopenia, prolonged prothrombin time (PT), activated partial thromboplastin time (aPTT), elevated international normalized ratio (INR), low fibrinogen, and high D-dimer levels. This report describes two full-term male neonates born to consanguineous parents who developed early-onset PF due to severe hereditary protein-C deficiency (activity 4-8%, below the normal neonatal range of 25-40 IU/dL or 14-42%).​ Both exhibited rapidly progressive ecchymotic lesions leading to necrosis and eschar, and despite fresh frozen plasma (FFP) transfusions, heparin, and supportive care, they succumbed to DIC and sepsis on 13 and 22 days of life, respectively. These cases contribute meaningfully to the existing literature and reinforce the importance of genetic counseling, prompt diagnosis, and strengthening neonatal critical care resources.

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