Severe congenital dysfibrinogenemia (fibrinogen-Riyadh): a family study

Area of Science:

• Hematology
• Genetics
• Pediatric Medicine

Background:

• Dysfibrinogenemia is a rare inherited bleeding disorder characterized by abnormal fibrinogen function.
• Congenital forms can manifest with varying severity, impacting hemostasis.
• Understanding genetic transmission is crucial for diagnosing and managing affected families.

Observation:

• A Saudi family presented with a child exhibiting severe bleeding tendencies since birth.
• The child's coagulation profile indicated severe dysfibrinogenemia.
• Parents, first-degree cousins, were asymptomatic but showed milder dysfibrinogenemia.

Findings:

• The child developed a large cephalohematoma and intracranial hemorrhage, leading to left hemiparesis.
• Treatment with cryoprecipitate resolved the hematoma.
• Neurological deficits persisted despite hematoma resolution.

Implications:

• This case highlights the autosomal recessive inheritance pattern of congenital dysfibrinogenemia.
• Early diagnosis and management are critical for preventing severe bleeding complications.
• Genetic counseling is recommended for families with inherited bleeding disorders.