Diagnosis and treatment of a newborn with homozygous protein C deficiency.
The case is reported of a seriously affected newborn with homozygous protein C deficiency who developed neonatal purpura fulminans. Foetal ultrasound at 33 wk of gestation revealed ventriculomegaly. The first lesions appeared on the scalp 48 h after birth. She was initially treated with fresh-frozen plasma and, after the diagnosis was confirmed, with purified protein C concentrate. After skin necrosis had healed, therapy was continued with oral warfarin. The infant was homozygous for protein C W380G mutation. Diagnosis at the DNA level gave the parents an option of reliable prenatal diagnosis in their subsequent pregnancy.


CONCLUSIONS
Difficulties in reaching an accurate diagnosis are discussed since early diagnosis and urgent therapy with protein C replacement are crucial to avoid further damage after delivery.
Department of Pediatrics, Kuopio University Hospital, Kuopio, Finland. marjut.salonvaara@kuh.fi
M
M
Salonvaara
K
K
Kuismanen
T
T
Mononen
P
P
Riikonen
D005260:Female; D006801:Humans; D011695:IgA Vasculitis / Q000150:complications; D007231:Infant, Newborn; D011296:Prenatal Diagnosis; D011486:Protein C / Q000378:metabolism / Q000627:therapeutic use; D020151:Protein C Deficiency / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics
D011486:Protein C