Cerebral Palsy due to Intracranial Hemorrhage Caused by Consumptive Coagulopathy in Protein C Deficiency: A Case Report
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Protein C (PROC) is a potent anticoagulant inactivating coagulation factors Va and VIIIa. PROC deficiency is very rare condition inherited as an autosomal dominant or recessive trait, and associated with various thromboembolic and ischemic conditions. Moreover, severe form of PROC deficiency can cause fatal hemorrhagic complications due to consumptive coagulopathy. We reported two children with hemorrhagic stroke who were diagnosed as severe PROC deficiency caused by two different types of compound heterozygous PROC gene mutations. We described results of laboratory tests, genetic analysis, brain magnetic resonance images, and functional outcomes. Both children received prophylactic anticoagulation therapy and presented with purple-colored skin lesions during rehabilitation. Purpura fulminans caused by insufficient anticoagulation should be differentiated from hematoma caused by excessive anticoagulation therapy in these children.
Abstract
Protein C (PROC) is a potent anticoagulant inactivating coagulation factors Va and VIIIa. PROC deficiency is very rare condition inherited as an autosomal dominant or recessive trait, and associated with various thromboembolic and ischemic conditions. Moreover, severe form of PROC deficiency can cause fatal hemorrhagic complications due to consumptive coagulopathy. We reported two children with hemorrhagic stroke who were diagnosed as severe PROC deficiency caused by two different types of compound heterozygous PROC gene mutations. We described results of laboratory tests, genetic analysis, brain magnetic resonance images, and functional outcomes. Both children received prophylactic anticoagulation therapy and presented with purple-colored skin lesions during rehabilitation. Purpura fulminans caused by insufficient anticoagulation should be differentiated from hematoma caused by excessive anticoagulation therapy in these children.
참고문헌 (8)
- Morris C, "Definition and classification of cerebral palsy: a historical perspective", Dev Med Child Neurol, 109(Suppl), pp.3~7 (2007)
- Gibson CS, "Associations between inherited thrombopilias, gestational age, and cerebral palsy", Am J Obstet Gynecol, 193, pp.1437~ (2005)
- Goldenberge NA, "Protein C deficiency", Haemophilia, 14, pp.1214~1221 (2008)
- Khan S, "Hereditary thrombophilia", Thromb J, 4, pp.15~ (2006)
- "Korean Statistical Information Service" (2015)[URL]
- Kim E, "Stroke associated with protein C and S deficiency in neonate: report of two cases", J Korean Soc Neonatol, 14, pp.71~77 (2007)
- Ohga. S, "Paediatric presentation and outcome of congenital protein C deficiency in Japan", Haemophilia, 19(3), pp.378~384 (2013)
- Monagle P, "Homozygous protein C deficiency : description of a new mutation and successful treatment with low molecular weight heparin", Thromb Haemost, 79, pp.756~761 (1998)