Premium
Diagnosis and treatment of a newborn with homozygous protein C deficiency
Author(s) -
Salonvaara M,
Kuismanen K,
Mon T,
Riikonen P
Publication year - 2004
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2004.tb00688.x
Subject(s) - medicine , prenatal diagnosis , purpura fulminans , pregnancy , pediatrics , gestation , ventriculomegaly , protein c , fresh frozen plasma , surgery , protein s deficiency , protein c deficiency , obstetrics , fetus , protein s , thrombosis , platelet , genetics , biology , venous thrombosis
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. Conclusion : 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.