Antepartum findings in fetal protein C deficiency

Abstract

A pregnancy with fetal homozygous protein C deficiency was complicated in the third trimester by fetal ventriculomegaly, intraorbital thrombosis and placental infarcts, which could be imaged by combined use of ultrasonography and MRI. Copyright © 2000 John Wiley & Sons, Ltd.

Diagnosis and treatment of a newborn with homozygous protein C deficiency

“…This case report describes a newborn with purpura fulminans diagnosed with homozygous type II PC deficiency. Antepartum findings of the same patient have been reported previously (5). This report describes the therapy of the affected newborn and the prenatal diagnosis in a subsequent pregnancy.…”

Long-term Follow-up of Homozygote Protein C Deficiency After Multimodal Therapy

“…Since 1998, of 20 published cases of homozygous protein C deficiency presenting with neonatal purpura fulminans worldwide, 2,6,7,9,[11][12][13][14][15][16][17][18] most have had a poor clinical outcome; 75% have complete blindness (n = 15), 33% have severe neurological impairment (n = 6), and 10% have died within the first few days of life (n = 2). Other major morbidities such as renal failure (n = 2), epilepsy (n = 1), and impaired growth and development (n = 4) have also been reported, with only 3 patients having escaped any major morbidity, because of very early and continuous treatment with protein C concentrate.…”

Severe fetal ischaemic brain injury caused by homozygous protein C deficiency

“…The parents of this patient were found to be heterozygous for PC deficiency, and the infant was homozygous. 8 A recent review of 27 Japanese patients receiving activated PC concentrate also retrospectively identified that three patients had fetal hydrocephalus, which preceded neonatal purpura fulminans. 7 In all reported cases, the diagnosis was made following the delivery through thrombophilia screening.…”