Neonatal purpura fulminans caused by protein C deficiency
نویسندگان
چکیده
منابع مشابه
Management of neonatal purpura fulminans with severe protein C deficiency.
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.
متن کاملNeonatal Purpura Fulminans
Neonatal purpura fulminans is a rare and life threatening disease that can be inherited or acquired in etiology. It manifests as DIC and extensive subcutaneous thrombosis. The condition is often fatal unless there is prompt diagnosis, and judicious therapy. The most important causes of this condition are infections and congenital deficiency of anticoagulant proteins C and S.In the case of PC (p...
متن کاملProtein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans
Protein C is an anticoagulant that is encoded by the PROC gene. Protein C deficiency (PCD) is inherited in an autosomal dominant or recessive pattern. Autosomal dominant PCD is caused by monoallelic mutations in PROC and often presents with venous thromboembolism. On the other hand, biallelic PROC mutations lead to autosomal recessive PCD which is a more severe disease that typically presents i...
متن کاملneonatal purpura fulminans
neonatal purpura fulminans is a rare and life threatening disease that can be inherited or acquired in etiology. it manifests as dic and extensive subcutaneous thrombosis. the condition is often fatal unless there is prompt diagnosis, and judicious therapy. the most important causes of this condition are infections and congenital deficiency of anticoagulant proteins c and s.in the case of pc (p...
متن کاملDiagnosis and management of neonatal purpura fulminans.
Neonatal purpura fulminans is a rare, life-threatening condition, caused by congenital or acquired deficiencies of protein C or S. The condition is often fatal unless there is early recognition of the clinical symptoms, prompt diagnosis, and judicious replacement therapy is initiated. The clinical presentation is that of acute disseminated intravascular coagulation and hemorrhagic skin necrosis...
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ژورنال
عنوان ژورنال: Sri Lanka Journal of Child Health
سال: 2009
ISSN: 2386-110X,1391-5452
DOI: 10.4038/sljch.v38i3.1013