September 9, 2013
An 18-month-old child with minor trauma. No fractures anywhere else. Past history of cephalhematoma and bleeding from umbilical cord as a newborn.
Congenital Afibrinogenemia
- Congenital afibrinogenemia is an inherited disorder characterized by absence of fibrinogen, thus impairing fibrin clot formation.
- Clinical manifestations range from minor to severe bleeding, often with long asymptomatic intervals. Bleeding may occur spontaneously as well as in relation to trauma.
- Key Diagnostic Features: Intraaxial or extraaxial hemorrhage of varying age and with minimal or no trauma history. Most often, the hematomas (intra- and extraaxial) are isodense to the brain. However, if the patient is on substitution therapy, the hematomas can be hyperdense (as is normally the case).
- DDx: Trauma; other bleeding diathesis; acquired coagulopathy
- Rx: Substitution fibrinogen therapy
