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  • Title: Long-term follow-up of homozygote protein C deficiency after multimodal therapy.
    Author: Monagle K, Ignjatovic V, Hardikar W, Newall F, Monagle P.
    Journal: J Pediatr Hematol Oncol; 2014 Oct; 36(7):e452-5. PubMed ID: 24136027.
    Abstract:
    Homozygous protein C deficiency is an extremely rare condition presenting in the neonatal period with purpura fulminans, with very high rates of morbidity and mortality. Optimal treatment for this condition is highly complex, poorly understood, and often limited by cost and product supply. We report a child who presented 2 days after birth with purpura fulminans and severe prenatal eye damage, but no cerebral lesions. He was treated with novel multimodal therapy culminating in liver transplant at 3 years of age. The patient is now 12 years of age, well, with blindness as his only long-term deficit.
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