Case Report: Factor VII Deficiency Presented With Cephalohematoma After Birth

Introduction: Factor VII deficiency is a rare inherited autosomal recessive bleeding disorder with a global prevalence of 1/500,000. Most cases remain asymptomatic, and cases with severe clinical presentation are rarely reported.Case Presentation: A newborn male with no relevant maternal antenatal history, delivered via vacuum-assisted cesarean section, presented with a large cephalohematoma after delivery. Poor appetite, pale appearance, and bulging fontanelles were observed 2 days later, progressing to hypovolemic shock. Further imaging examination revealed a large intracranial hemorrhage. Serial laboratory examination revealed remarkable coagulopathy with prolonged prothrombin time and factor VII deficiency (<1%, severe type). The patient was genetically confirmed to have the FVII:c 681+1 G>T homozygous mutation. Brain hemorrhage was resolved with high-dose factor VII replacement therapy with recombinant activated factor VII. However, repeated hemothorax and intracranial hemorrhage were detected. Therefore, the patient was under regular factor VII supplementation with a rehabilitation program for cerebral palsy.Conclusions: A case of factor VII deficiency with large cephalohematoma and intracranial hemorrhage after birth is described herein, which was treated with high-dose replacement therapy. Variants of the FVII:c 681+1 G>T (IVS6+1G>T) homozygous genotype may present with a severe phenotype at the neonatal stage. We aim to share a unique neonatal presentation with a certain genotype and treatment experience with initial replacement therapy, followed by regular prophylactic dosage.

Congenital Factor VII Deficiency Presenting With Isolated Recurrent Hematuria: A Case Report

Factor VII deficiency is a rare congenital coagulopathy disorder. In most cases, this disorder is diagnosed in childhood. Common symptoms of congenital factor VII deficiency are different and consist of cutaneous, mucosal hemorrhage, gastrointestinal bleeding, and joint bleeding. CNS hemorrhage is a fatal and severe complication of congenital factor VII deficiency. The incidence of gross hematuria is a rare symptom of factor VII deficiency. Isolated presentation of hematuria is rarer and usually is accompanied by bleeding in other sites. The patient reported here is a 6-month-old girl who was diagnosed with congenital Factor VII deficiency following episodes of isolated gross hematuria. We decided to report this case to demonstrate if there is no other organic cause in the investigation of a child with recurrent hematuria, we should also consider a coagulation factors deficiency. Since isolated hematuria is a rare symptom in the coagulation factors deficiency, the coagulation tests may be of less interest.

Factor V11 deficiency: A rare cause of nasal bleeding

Factor VII deficiency is a rare inherited disorder. Clinically the patient presents with bleeding tendencies. Diagnosis is made by prolonged prothrombin time, normal activated partial thromboplastin time and low functions factor VII assay or factor VII antigen. Therapy involves factor VII concentrates, recombinant factor VII, fresh frozen plasma and fibrinolytic inhibitors. We present a 6 years old boy with nose bleed for six months of whom prothrombin time was prolonged with functional factor VII assay of less than 1% confirming factor VII deficiency. He was managed with fresh frozen plasma, blood transfusion, tranexamic acid. Factor VII deficiency even though rare should be sought out in children presenting with bleeding. Keywords: Factor VII deficiency; coagulation; hemorrhage.