1/5. Unusual presentation of factor xiii deficiency.factor xiii deficiency is a rare inherited bleeding disorder that is often difficult to diagnose. The standard screening tests are normal in these patients and their bleeding phenotype may be variable. We report the case of a 3-year-old girl who presented with an intracranial haemorrhage. Several confounding factors, such as the suspicion of an arteriovenous malformation and the development of a deep venous thrombosis, led to a delay in the diagnosis of factor xiii deficiency. Subsequently, her brother was also found to have severe factor xiii deficiency. This case highlights the importance of a detailed history and of screening families in which index cases have been identified. It should also remind physicians that bleeding disorders may have unusual presentations and should be sought when investigating unexplained bleeding.- - - - - - - - - - ranking = 1keywords = intracranial haemorrhage, haemorrhage (Clic here for more details about this article) |
2/5. Surgery in severe factor xiii deficiency: report of a case of epilepsy neurosurgery and review.Factor XIII (FXIII) deficiency is a rare autosomal recessive congenital disorder of haemostasis, associated with a high risk of intracranial haemorrhage. Intracranial haemorrhage can result in neurological sequelae including seizure disorders. In some cases, medically intractable epilepsy led to epilepsy surgery. Little has been reported on the management of FXIII deficiency during surgery, and there is only a few data on the management, safety and efficacy of epilepsy surgery in the patients with haemostatic disorder. We report here an epilepsy neurosurgery in a case of severe FXIII deficiency.- - - - - - - - - - ranking = 1.0744670840534keywords = intracranial haemorrhage, haemorrhage (Clic here for more details about this article) |
3/5. Congenital deficiency of factor XIII caused by two missense mutations in a Dutch family.We present the clinical, biochemical and genomic findings of a family with congenital factor XIII (FXIII) deficiency. Congenital FXIII deficiency is a very rare autosomal recessive bleeding disorder, characterized by umbilical cord bleeding at birth and spontaneous intracranial haemorrhage. Routine clotting tests are normal, which may delay the diagnosis, leading to an increased chance of severe sequelae. The propositus and her brother, known with haemorrhagic diathesis, were found to be compound heterozygous with a known missense mutation (1050 G --> T transversion in exon 7, Val316Phe substitution) and a novel mutation 889 G --> A in exon 6, which predicts a Gly262Glu substitution. As these mutations were known in the family, dna obtained from cord blood of the youngest sister was analysed for mutations in exons 6 and 7 only. We postulate that the diagnosis was facilitated by determining the two different mutations in the genotype of this family. The analysis showed that she was heterozygous for the exon 7 mutation. Hence, she was not at risk of experiencing haemorrhagic diathesis. This diagnosis avoided the administration of FXIII concentrate to the newborn.- - - - - - - - - - ranking = 1keywords = intracranial haemorrhage, haemorrhage (Clic here for more details about this article) |
4/5. Inherited factor xiii deficiency.A new observation of inherited factor xiii deficiency is described. The patient had presented in the past with an umbilical haemorrhage, a cerebral haemorrhage, multiple haematomas with delayed onset after minimal trauma, and episodes of spontaneous haemarthrosis. The biological diagnosis was made at the age of 7 years. The child had undetectable transamidating activity and factor XIII a chains, while the level of b chains was reduced. The values observed in the parents were intermediate between those of the patient and those of normal plasma. Heated factor viii concentrates were found to contain only low amounts of factor XIII, and were thus unsuitable for the prophylactic therapy of this rare disease. The patient was successfully treated with monthly injections of a factor XIII concentrate.- - - - - - - - - - ranking = 0.14893416810688keywords = haemorrhage (Clic here for more details about this article) |
5/5. Clinical experience with a pasteurised human plasma concentrate in factor xiii deficiency.A three-day-old infant presented with umbilical haemorrhage. factor xiii deficiency was diagnosed. When one month old she commenced prophylactic injections of pasteurised factor XIII concentrate of human plasma origin. During two and a half years treatment there were no haemorrhagic episodes and factor XIII concentrate was well tolerated. Satisfactory post infusion factor XIII levels were achieved. Three transient elevations of aspartate transaminase occurred, the cause of which has not been established. There was no evidence of transmission of hepatitis or H.I.V. infection. A brother, born one year later, is also affected and commenced prophylactic therapy with the same factor XIII concentrate. Experience in these two infants suggests the product is efficacious.- - - - - - - - - - ranking = 0.074467084053441keywords = haemorrhage (Clic here for more details about this article) |