Severe spontaneous intracranial bleeding in 11-months old boy with congenital afibrinogenemia
Authors:
O. Zapletal 1; J. Blatný 1; S. Köhlerová 1; V. Fiamoli 1; R. Kotlín 2; J. E. Dyr 2
Authors‘ workplace:
Oddělení dětské hematologie, FN Brno
primář MUDr. J. Blatný, Ph. D.
1; Ústav hematologie a krevní transfuze, Praha
ředitel prof. MUDr. P. Cetkovský, Ph. D., MBA
2
Published in:
Čes-slov Pediat 2014; 69 (5): 291-294.
Category:
Case Report
Sdělení bylo prezentováno formou přednášky na XIX. Pařízkových dnech v Ostravě dne 20. 9. 2013.
Overview
Congenital afibrinogenemia is very rare inherited bleeding disorder caused by absence of fibrinogen in plasma. Serious 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 cleft lip and palate plastic surgery after birth. Spontaneous intracranial bleeding in occipital region occurred spontaneously when the boy was 11 month old. Replacement therapy with plasma derived fibrinogen concentrate successfully covered neurosurgical evacuation of hematoma. Then we commenced the patient 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 exact diagnostics and surgery, when necessary. Prophylactic substitution therapy after a severe bleeding episode is usually recommended.
Key words:
inherited bleeding disorder, children, afibrinogenemia, intracranial bleeding
Sources
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Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2014 Issue 5
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