We describe two previously healthy children who had multiple ecchymoses several days after acute infection. In both cases,the prothrombin time (PT) and the activated partial thromboplastin time (APTT) were prolonged. ...We describe two previously healthy children who had multiple ecchymoses several days after acute infection. In both cases,the prothrombin time (PT) and the activated partial thromboplastin time (APTT) were prolonged. Further examinations revealed the presence of lupus anticoagulant (LA), phosphatidylserine-dependent antiprothrombin antibodies (aPS/PT), and low serum complement. In both cases, we confirmed the presence of a serum immune complex. The patients’ symptoms improved spontaneously within 1 week, and all laboratory data normalized within several months. We also describe another asymptomatic case positive for LA and aPS/PT presumably associated with cytomegalovirus infection. The prevalence of transient antiphospholipid antibodies associated with viral infections in children must be much higher than we expected.We have to take it into consideration when we see abnormalcoagulation results, but the occurrence of significant bleeding symptoms is rare.展开更多
A 44- day- old male infant with familial hemophagocytic lymphohistiocytosis (FHL) associated with the MUNC13- 4 mutation is reported. He presented with fever and poor feeding, lymphocytosis with thrombocytopenia and C...A 44- day- old male infant with familial hemophagocytic lymphohistiocytosis (FHL) associated with the MUNC13- 4 mutation is reported. He presented with fever and poor feeding, lymphocytosis with thrombocytopenia and CSF pleocytosis without virological explanation. On the basis of progressive hyperferritinemia (1.323 ng/ml), anemia (hemoglobin: 5.2 g/dl), hypertriglyceridemia (547 mg/dl) and increased LDH (1063 IU/l) with hemophagocytosis in the bone marrow, hemophagocytic lymphohistiocytosis was diagnosed. He showed a good response to corticosteroid therapy and the disease was stable for more than 5 months. Thereafter, he suffered from central nervous system complications, and successfully underwent unrelated cord blood stem cell transplantation. A remission was observed for more than 2 years, with mild mental retardation. Genetic analysis revealed that he had a compound heterozygous mutation of MUNC13- 4; namely a novel 2163G > A mutation resulting in W721X, and 754- 1G > C resulting in a premature stop codon in this gene. Western blot analysis showed the complete loss of the MUNC13- 4 protein, whereas other molecules associated with the SNARE systems were detected at normal levels. Conclusion. FHL may have a broad clinical spectrum, and further analysis on its phenotype- genotype association is required to establish an appropriate treatment strategy, including immunochemotherapy and stem cell transplantation in the future.展开更多
文摘We describe two previously healthy children who had multiple ecchymoses several days after acute infection. In both cases,the prothrombin time (PT) and the activated partial thromboplastin time (APTT) were prolonged. Further examinations revealed the presence of lupus anticoagulant (LA), phosphatidylserine-dependent antiprothrombin antibodies (aPS/PT), and low serum complement. In both cases, we confirmed the presence of a serum immune complex. The patients’ symptoms improved spontaneously within 1 week, and all laboratory data normalized within several months. We also describe another asymptomatic case positive for LA and aPS/PT presumably associated with cytomegalovirus infection. The prevalence of transient antiphospholipid antibodies associated with viral infections in children must be much higher than we expected.We have to take it into consideration when we see abnormalcoagulation results, but the occurrence of significant bleeding symptoms is rare.
文摘A 44- day- old male infant with familial hemophagocytic lymphohistiocytosis (FHL) associated with the MUNC13- 4 mutation is reported. He presented with fever and poor feeding, lymphocytosis with thrombocytopenia and CSF pleocytosis without virological explanation. On the basis of progressive hyperferritinemia (1.323 ng/ml), anemia (hemoglobin: 5.2 g/dl), hypertriglyceridemia (547 mg/dl) and increased LDH (1063 IU/l) with hemophagocytosis in the bone marrow, hemophagocytic lymphohistiocytosis was diagnosed. He showed a good response to corticosteroid therapy and the disease was stable for more than 5 months. Thereafter, he suffered from central nervous system complications, and successfully underwent unrelated cord blood stem cell transplantation. A remission was observed for more than 2 years, with mild mental retardation. Genetic analysis revealed that he had a compound heterozygous mutation of MUNC13- 4; namely a novel 2163G > A mutation resulting in W721X, and 754- 1G > C resulting in a premature stop codon in this gene. Western blot analysis showed the complete loss of the MUNC13- 4 protein, whereas other molecules associated with the SNARE systems were detected at normal levels. Conclusion. FHL may have a broad clinical spectrum, and further analysis on its phenotype- genotype association is required to establish an appropriate treatment strategy, including immunochemotherapy and stem cell transplantation in the future.
