| A case of Congenital Factor X III Deficiency. |
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Sei Woo Chung1, Myung Ik Lee1, Don Hee Ahn1, Keun Chan Sohn1, Jin Sook Hong2, Dong Hun Yoon2 |
1Department of Pediatrics, National Medical Center, Seoul Korea
2Department of Biochemistry, National Medical Center, Seoul Korea |
| 선천성 Factor XIII 결핍증 1례 |
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정세우1, 이명익1, 안돈희1, 손근찬1, 홍진숙2, 윤동헌2 |
1국럽의료원소아과
2국럽의료원 생화학과 |
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| Abstract |
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A 4 year and 7 month old male patient was admitted with the chief complaint of subgaleal hematoma and recurrent bleeding episodes. The first episode was umbilical cord bleeding on the third day of life. Routine coagulation study including factor assay at that time was within normal limit. The bleeding cleared after whole blood transfusion. He had been admitted three times more afterwards with uncontrollable hematoma after trauma, followed by wound infection and delayed wound healing. Everytime he received blood transfusion with clearing of bleeding and wound healing. Family history disclosed two female siblings died of bleeding tendency on the third day of life and 7 years of age, respectively. For the evaluation of bleeding disorder, factor VIII, XI and XI assays, platelet function test including adhesiveness and aggregation, Rumpel-Leede test and bleeding time, prothrombin time and activated partial thromboplastin time were done with normal results. Serum fibrinogen was somewhat decreased and euglobulin lysis time was within low-normal limit. All the routine coagulation laboratory results being [normal, clot solubility test with 5 Murea and with 2% acetic acid was done for the screening of factor XIII deficiency. The patient` s clot solubility test was abnormal suggesting inadequate factor XIII levels. Now he is on monthly regular whole blood or fresh frozen plasma transfusion without anymore bleeding episodes.
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| Key Words:
Congenital factor XIII deficiency, Clot solubility test, Whole blood or fresh frozen plasma transfusion.
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