Long-term follow-up of homozygote protein C deficiency after multimodal therapy.

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.

• Authors: Kate Monagle, Vera Ignjatovic, Winita Hardikar, Fiona Newall, Paul Monagle
• Journal: Journal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 36 Issue 7 Pg. e452-5 (Oct 2014) ISSN: 1536-3678 [Electronic] United States
• PMID: 24136027 (Publication Type: Case Reports, Journal Article)

Chemical References

• Protein C

Topics

• Child
• Child, Preschool
• Combined Modality Therapy
• Follow-Up Studies
• Homozygote
• Humans
• Infant, Newborn
• Liver Transplantation
• Male
• Protein C (genetics)
• Protein C Deficiency (genetics, surgery, therapy)
• Purpura Fulminans (genetics, therapy)