Severe Spontaneous Intracranial Bleeding in 11 Months Old Boy with Congenital Afibrinogenemia with Novel Mutation - Deletion aα 6477A in Fibrinogen Gene

Congenital afibrinogenemia is very rare inherited bleeding disorder, caused by absence of fibrinogen in plasma. Serious spontaneous bleeding including intracranial haemorrhage may occur at any age.

We present a case report of a boy with afibrinogenemia caused by novel mutation – homozygous deletion Aα 6477A. Diagnosis was set after bleeding post cleft lip and palate plastic surgery. Spontaneous intracranial haematoma in occipital region occurred when the boy was 11 month old. Replacement therapy with plasma derived fibrinogen concentrate successfully covered neurosurgical evacuation of hematoma. The patient was then commenced on regular prophylaxis with fibrinogen concentrate two times a week. No further bleeding episodes occurred until present time.

Spontaneous intracranial bleeding in patients with inherited bleeding disorders is often life threatening. Immediate replacement therapy is crucial, together with diagnostics and surgery, when necessary. Prophylactic substitution therapy after a severe bleeding episode is recommended.