Cerebral thrombosis associated with heterozygous factor V Leiden mutation and high lipoprotein(a) level in a girl with factor XIII deficiency.
A 5-year-old girl in whom the diagnosis of inherited factor XIII deficiency was established at the age of 1 day presented with cryptic tonsillitis along with drowsiness and an abrupt occurrence of getting left interior cross eyed. While an intracranial hemorrhage was expected, cerebral imaging studies surprisingly revealed multiple sino venous thrombosis. In prothrombotic screening studies she and her father were both found to be heterozygous for factor V Leiden mutation along with having elevated levels of lipoprotein(a). Low-molecular-weight heparin was started. Ventriculoperitoneal shunt was applied because of persistence of increased intracranial pressure. Thrombosis disappeared and blood flow was normalized by the end of 2 months and the patient was discharged on coumadin therapy as being well. We would like to report this unusual case and to discuss the possible effects of two major genetic prothrombotic risk factors on inherited bleeding tendency or vice versa.
Akbalik
Mehtap
M
Faculty of Medicine, Department of Pediatric Hematology, Ondokuz Mayis University, Samsun, Turkey.
Duru
Feride
F
Fisgin
Tunc
T
Tasdemir
Haydar Ali
HA
Incesu
Lutfi
L
Albayrak
Davut
D
Ozyurek
Emel
E
D000925:Anticoagulants / Q000627:therapeutic use; D002533:Cerebral Angiography; D002675:Child, Preschool; D003241:Consanguinity; D005165:Factor V / Q000235:genetics; D005177:Factor XIII Deficiency / Q000150:complications* / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D017270:Lipoprotein(a) / Q000097:blood*; D020225:Sagittal Sinus Thrombosis / Q000188:drug therapy / Q000235:genetics*; D014859:Warfarin / Q000627:therapeutic use
D000925:Anticoagulants; D017270:Lipoprotein(a); C095381:factor V Leiden; D014859:Warfarin; D005165:Factor V