Cases reported "Factor Xiii Deficiency"

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11/68. 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. ( info)

12/68. factor xiii deficiency mistaken for battered child syndrome: case of "correct" test ordering negated by a commonly accepted qualitative test with limited negative predictive value.

    We report herein a case of factor xiii deficiency that remained undiagnosed until 2 years of age. Part of the delay in diagnosis was a consequence of testing that was performed on a blood sample obtained after plasma transfusion therapy for a life-threatening bleeding episode. Due to insufficient family follow-up after discharge from the hospital, the diagnosis was delayed 1 year until the child was rehospitalized and a pre-transfusion plasma sample was tested. The commonly accepted approach of using only a qualitative test for the diagnosis of factor xiii deficiency is challenged by this case report. ( info)

13/68. 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. ( info)

14/68. Identification of a point mutation in factor XIII A subunit deficiency.

    Oligonucleotide primers have been designed for the amplification of all 15 exons of the human coagulation factor XIII A subunit gene. Each exon and its intron flanking regions has been amplified and sequenced from a patient with severe A subunit deficiency. A single G to A transition in the last base of exon 14 has been identified in the homozygous proband and in his heterozygous parents. The mutation would result in the substitution 681 Arg to His in the mature protein product. However, because the mutation is at a splice junction, the deficiency may result from a defect in pre-messenger rna splicing. ( info)

15/68. A reversed activity staining procedure for detection of an acquired antibody against factor XIII in a girl with factor xiii deficiency.

    A new method for detection of inhibitors against factor XIII is described. Agarose gel electrophoresis with normal platelet poor plasma as a factor XIII source included in the gel was combined with reversed activity staining. The procedure was applied to a 10-year-old girl with factor xiii deficiency where substitution therapy had failed. plasma samples from the patient inhibited the factor XIII catalysed incorporation of the fluorescent monodansylthiacadaverine into casein at a position corresponding to the migration of gamma-globulins. Treatment with sepharose-bound protein A effectively adsorbed the factor XIII antibody in the patient's plasma. ( info)

16/68. Congenital factor xiii deficiency.

    Clinical and hematological data of 9 cases with factor xiii deficiency is highlighted. The age at first bleed ranged from 3 days of life to 1 year. Seven of these 9 cases had bleeding from the umbilicus, 3 had recurrent subcutaneous and muscle hematomas, while 4 cases had CNS bleeds of which 3 expired. Routine coagulogram was normal, while clot solubility in 5 molar urea solution was abnormal in all cases. Factor XIII assay was not done in any. patients were treated with plasma transfusion during episodes of bleeding. No patient received plasma transfusion as prophylactic therapy. The cumulative Indian data so far documented, inclusive of this series, shows a very high incidence of CNS bleeds (33%) in patients with this inherited coagulation disorder. ( info)

17/68. factor xiii deficiency associated with valproate treatment.

    PURPOSE: We present two children who developed a deficiency of factor XIII with valproate (VPA) treatment. This coagulation disorder has not been described in association with VPA treatment in children, and only very recently in one adult patient. RESULTS: Both patients showed recurrent epistaxis as major clinical sign of a combination of decreased coagulation parameters (factor xiii deficiency with thrombocytopenia and decreased von willebrand factor, respectively). A few days after reduction or withdrawal of VPA treatment, clinical symptoms disappeared, and laboratory findings were within normal range. CONCLUSIONS: VPA is known to influence the synthetic function of the liver and the number and function of megakaryocytes. Therefore an alteration of the factor XIII level by VPA is conceivable. Our case reports suggest that bleeding symptoms during VPA treatment may be caused or aggravated by a decreased factor XIII activity. A determination of factor XIII activity should be considered before surgical procedures during VPA treatment to minimize the risk of (severe) postsurgical bleeding complications. ( info)

18/68. Combined occurrence of von Willebrand's disease and factor xiii deficiency: a case report.

    We report the case of a three year old female child with combined occurrence of von Willebrand's disease and factor xiii deficiency, an extremely rare combination. The patient presented with prolonged bleeding following cuts and wounds. Clot solubility test using 5M urea was positive. platelet aggregation using ristocetin was reduced, which corrected on adding normal plasma. Aggregation with other agonists was normal. We discuss the clinico- hematological profile of the case. Only one such case has been reported in literature in the past to the best of our knowledge. ( info)

19/68. factor xiii deficiency: a rare cause of repeated abortions.

    factor xiii deficiency is a rare cause of early abortion. The obstetrical outcome of four pregnancies in two women with factor xiii deficiency is reported. Both women were treated with substitution therapy using locally-prepared cryoprecipitate. The outcome in these two women demonstrated the need for substitution therapy in early pregnancy leading to an increased chance of obstetrical success. ( info)

20/68. Spontaneous chronic subdural hematomas in young adults with a deficiency in coagulation factor XIII. Report of three cases.

    Chronic subdural hematomas (SDHs) generally occur in elderly patients. Its pathogenesis is usually related to head trauma with tearing and rupture of the bridging veins, although in some cases a history of trauma is not recognizable. There are many reports regarding the association between spontaneous chronic SDHs and an alteration in coagulative parameters. A coagulative disorder should be suspected when an unexplained hemorrhage occurs, especially in a young patient. The authors report on three young men with a deficiency in coagulation factor XIII (FXIII) who underwent surgery for chronic SDHs. The role of FXIII in the pathogenesis of chronic SDH is emphasized. In patients with unexplained chronic SDH all coagulation parameters and factors should be screened to identify an eventual coagulative disorder. ( info)
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