Subgaleal hematoma presenting as a manifestation of Factor XIII deficiency

Extracranial hematoma without significant head trauma is uncommon. We discuss a 9-year-old girl who presented with sudden head swelling, bilateral proptosis, extraocular muscle palsy, and progressive visual disturbance after hair braiding. The diagnosis of a large subgaleal hematoma with extension into the superior aspect of the orbits was made, requiring surgical drainage. Hematologic workup revealed an underlying Factor XIII deficiency.     

Neonatal factor XIII deficiency

We describe a patient diagnosed in the neonatal period as having factor XIII deficiency who presented with persistent umbilical bleeding. Factor XIII deficiency is the only coagulation factor deficiency that cannot be detected by classical hemostatic tests, and a rapid diagnosis is vital during the first decade of life. A newborn presenting with persistent umbilical stump bleeding should be screened for factor XIII deficiency when routine coagulation tests prove normal.     

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.     

Hereditary coagulation factor X deficiency

Stuart Prower factor (Factor X) deficiency is a rare hereditary autosomal recessive coagulation disorder. We have come across three cases in the course of last 20 years at our institute. These patients presented with prolonged bleeding after minor trauma, epistaxis, subcutaneous bluish black nodules and two of them presented with history of consanguinity in parents. Hematological findings in correlation with clinical manifestations revealed severe factor X deficiency.     

Hereditary heterozygote factor VII deficiency]

Hereditary Factor VII deficiency is one of the rare congenital coagulopathies. Prolonged prothrombin time (PT) with normal partial prothrombin time (PTT) may be an indicator for Factor VII deficiency. A family with hereditary heterozygous Factor VII deficiency is presented in whom no symptoms of a bleeding disorder were clinically detectable. A discussion of the therapeutic options follows.     

Segmental uniparental disomy as a rare cause of congenital severe factor XIII deficiency in a girl with only one heterozygous carrier parent

Abstract

Uniparental disomy (UPD) refers to a situation when a person inherits both homologs of a region or complete part of a chromosome from only one parent. Here, we present an unusual case of UPD in congenital severe factor (F) XIII deficiency. A 6-year-old girl experienced cephalhematoma and umbilical bleeding after birth and easy bruising, and postextraction bleeding since early infancy. FXIII activity was 0% [mother 53.7% and father 132.5% (normal 70–140%)] and the FXIII antigen level was 2.5% [mother 38.9% and father 151% (normal 75–155%)]. The washed platelet FXIII activity was 0.1% in the patient (normal 64–144%), suggesting a deficiency of FXIII-A subunit. The FXIII-A subunit genetic analysis detected a homozygous p.Arg382Ser mutation. A similar heterozygous mutation was detected in the mother but surprisingly, not in the father. Kinship was confirmed by a paternity test. To confirm the possibility of UPD, a test using four markers in the vicinity of the F13A1 gene revealed that she inherited duplicate mutations from a heterozygous mutation in her mother, presenting a unique case of unusual maternal segmental UPD in otherwise unexplained congenital (homozygous) severe FXIII deficiency. UPD as a rare cause of autosomal recessive bleeding disorder when only one parent is affected is critical for genetic counseling.     

Congenital deficiency of factor VII

A case of congenital factor VII deficiency in a five-year-old child is reported. The patient, born of a non-consanguineous marriage, presented with repeated bouts of epistaxis since childhood. The prothrombin time (PT) was markedly prolonged with a normal bleeding time (BT), partial thromboplastin time with Kaolin (PTTK) and platelet count. The patient has been on follow up for the last four years and is doing apparently well.     

Congenital factor VII deficiency

A 1 1/2-month-old baby with seizures, lethargy and refusal of feeds was diagnosed to have intracranial hemorrhage due to factor VII deficiency. MRI also demonstrated the unusual presence of a hemorrhagic infarct. The case underscores the importance of carrying out neuroimaging and appropriate hematological studies even in the absence of obvious external bleeding. Hypothesis for increased propensity for intra-cranial hemorrhage is discussed.     

Intracranial hemorrhage in congenital deficiency of factor XIII

We describe a male infant with congenital deficiency of coagulation Factor XIII who presented in the immediate postnatal period with umbilical stump bleeding and suffered a severe intracranial hemorrhage at 2 months of age. Factor XIII, also known as "fibrin-stabilizing factor," is a transpeptidase that produces strong covalent bonds between soluble fibrin monomers formed during coagulation. Presumptive diagnosis of Factor XIII deficiency was made with a clot solubility screening test, and confirmation was accomplished by demonstrating the absence of cross-linked fibrin chains by electrophoresis. This patient had received replacement therapy for 2 years, initially with intravenous fresh frozen plasma, and recently with Fibrogammin (Hoechst-Roussel Pharmaceuticals), a European Factor XIII concentrate soon to be available in the United States. Factor XIII deficiency is associated with a high incidence of life-threatening complications, notably intracranial hemorrhage. In light of the long half-life of this factor and the relatively low risk associated with new Factor XIII concentrates, such as Fibrogammin, prophylactic life-long replacement therapy should be considered for patients with severe Factor XIII deficiency.     

Activity of blood coagulation Factor XIII as a prognostic indicator in patients with Henoch-Schönlein purpura

Determination of coagulation Factor XIII (F XIII)-related parameters in 21 patients with Henoch-Schönlein purpura documented a significant decrease of F XIII activity as well as of the F XIII-related antigenic determinants. Subgroup analysis with regard to the clinical symptoms showed an even further decrease of these parameters in patients with gastrointestinal complications. Stimulated by these findings a substitution therapy with a F XIII concentrate was initiated in those patients whose F XIII activity in plasma remained low and who developed severe abdominal pain accompanied by persisting gastrointestinal bleeding. This therapeutic approach not only corrected the laboratory data, but more important led to a cessation of pain and bleeding. A rapid decrease of F XIII levels after transfusion below 40 U/ml was indicative of relapse of abdominal symptoms, while increasing values were associated with the recovery of the patients. In conclusion: F XIII activity determinations appear to have a predictive value in patients with Henoch-Schönlein purpura, and the administration of F XIII concentrates may contribute to the improvement of gastrointestinal complications.Abbreviations F XIII Factor XIII - SHP Henoch-Schönlein purpura - XIII-act Factor XIII activity - MCA monochloroacetic acid - XIII-A Factor XIII subunit A antigen - XIII-S Factor XIII subunit S antigen - F VIII R:AG Factor VIII related antigen - FDP Fibrin degradation products - F VIII:C Factor VIII coagulant activity     

遗传性凝血因子Ⅶ缺乏一例

患儿男，40d。因皮肤穿刺处渗血不止，间断呕血39d住院。患儿为第1胎第2产，足月剖宫产，生后无窒息。生后第2天哭声低弱，反应差，阵发性抽搐，呕吐，呕吐物呈咖啡色，量多时带有新鲜血丝。诊断为“新生儿缺氧缺血性脑病”，给予综合治疗。治疗期间皮肤穿刺部位渗血不止，反复呕吐，呕吐物为含血丝的咖啡色胃内容物。以“新生儿出血症、颅内出血、失血性贫血”转我院。     

Intracranial haemorrhage due to factor V deficiency

Factor V deficiency is a rare coagulation disorder which is inherited autosomal recessively. Factor V deficiency should be considered in infants with bleeding disorders and prolonged prothrombin and activated partial thromboplastin times if bleeding continues in spite of vitamin K injection. In this article, the case of an infant with an intracranial haemorrhage due to congenital factor V deficiency is reported.     

Posttraumatic subgaleal and orbital hematoma due to factor XIII deficiency

The authors report on a 6-year-old boy who presented with a tense subgaleal hematoma and proptosis 2 weeks after a minor head injury that were successfully managed by continuous closed-system drainage and blood transfusion. At evaluation he was found to have a transient mild factor XIII deficiency.     

Intraspinal hemorrhage in a child with factor XIII deficiency.

The rarity of spinal cord injuries and hemorrhages and of fibrin-stabilizing factor XIII deficiency during childhood has induced us to report the case of this two-year-old boy with factor XIII deficiency who presented with cervical intraspinal hemorrhage between the C4 and C7 levels as well as paraplegia presumably following a minor trauma. The findings in this patient, who was brought in two weeks after the appearance of the first symptoms, indicate the importance of early diagnosis and early intervention to minimize the extent of the damage from the injury in such cases. The case also points to the need for close follow-up of patients with factor XIII deficiency for CNS bleeding.     

Cephalohemoatoma as the first manifestation of congenital factor XIII deficiency

Congenital factor XIII deficiency is a rare hereditary disorder characterized by a marked tendency to bleeding. We describe a male newborn with inherited factor XIII deficiency. The patient was from a family without known antecedents and presented cephalohematoma as the first manifestation of the disease. This presentation is very unusual. The patient was diagnosed during the neonatal period and was successfully treated with substitution therapy. Early diagnosis and treatment of this disorder are important to prevent complications of severe bleeding.     

Severe congenital factor X deficiency with intracranial haemorrhage

A Saudi Arabian infant with severe factor X deficiency who had had two intracranial haemorrhages is described. Attempts to raise his factor X level and improve his prothrombin time (PT) and partial thromboplastin time (PTT) by using vitamin K, oestradiol and danazol have failed. New therapeutic trials are necessary for patients with severe forms of this rare disorder.Abbreviations PT prothrombin time - PTT partial thromboplastin time - FFP fresh frozen plasma