Sen Krishna, Roy Angshumoy
Department of Pediatric Medicine, Park Childrens Center for Treatment and Research, 4 Gorky Terrace, Kolkata 700 019, India.
Indian Pediatr. 2006 Jun;43(6):542-5.
Neonatal purpura fulminans is a life threatening clinical entity characterized by extensive subcutaneous thrombosis and disseminated intravascular coagulation usually manifesting shortly after birth. We report an autosomal recessive form of the disease in a neonate who was diagnosed with compound heterozygosity for mutations in his protein C gene as the molecular basis of his disorder.
新生儿暴发性紫癜是一种危及生命的临床病症,其特征为广泛的皮下血栓形成和弥散性血管内凝血,通常在出生后不久出现。我们报告了一名患有该病常染色体隐性遗传形式的新生儿,该患儿被诊断为蛋白C基因突变的复合杂合子,这是其病症的分子基础。