Management of neonatal purpura fulminans with severe protein C deficiency.
نویسندگان
چکیده
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.
منابع مشابه
Neonatal 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...
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We describe a bilateral leukocoria and neonatal purpura fulminans in a male infant, born at full term after an unremarkable pregnancy to a healthy consanguineous married couple. Multiple hemorrhagic skin bullae were found at birth on various parts of the body with bilateral leukocoria, organized vitreous hemorrhage, retinal detachment, and intracranial hemorrhage with undetectable levels of pro...
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...
متن کاملProtein C deficiency: a case review.
Protein C (PC) deficiency is a rare but life-threatening bleeding disorder that can present in the immediate neonatal period. This article presents the case of a baby girl with acute and progressive neonatal purpura fulminans as the presenting feature of PC deficiency. Other common complications of this disease include ophthalmic problems and central nervous system (CNS) changes. Management con...
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عنوان ژورنال:
- Indian pediatrics
دوره 43 6 شماره
صفحات -
تاریخ انتشار 2006