title: 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.affiliation: Departments of *Paediatrics §Nursing, The University of Melbourne †Murdoch Children's Research Institute Departments of ‡Gastroenterology ∥Clinical Haematology, Royal Children's Hospital, Melbourne, Australia.
authors.forename: Kate
authors.initials: K
authors.lastname: Monagle
authors.forename: Vera
authors.initials: V
authors.lastname: Ignjatovic
authors.forename: Winita
authors.initials: W
authors.lastname: Hardikar
authors.forename: Fiona
authors.initials: F
authors.lastname: Newall
authors.forename: Paul
authors.initials: P
authors.lastname: Monagle
mesh_terms: D002648:Child; D002675:Child, Preschool; D003131:Combined Modality Therapy; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D016031:Liver Transplantation; D008297:Male; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency / Q000235:genetics* / Q000601:surgery* / Q000628:therapy; D055665:Purpura Fulminans / Q000235:genetics / Q000628:therapy
chemical_list: D011486:Protein C