Trombosis venosa cerebral en niña portadora de la mutación 20210G→A del gen de la protrombina, tratada mediante fibrinólisis local del seno sagital superior

Case report. Girl, aged 4, without antecedents who was admitted to our hospital for drowsiness and progressive sensorial depression. Within 24 hours the clinical picture deteriorated with partial seizures of the right-hand side of the body and right hemiparesis. A brain CAT scan showed a left temporoparietal parenchymatous haematoma with collapse of the left lateral ventricle and moderate obliteration of the basal cisterns. MR angiography and cerebral arteriography displayed images that were compatible with thrombosis of the superior sagittal, the left transverse and the sigmoid sinuses. The patient was heterozygotic for the G→A mutation in position 20210 of the prothrombin gene, which is linked with a high risk of thrombosis. She was given heparin intravenously, but continued to display endocranial hypertension and tissue ischemia with partial response to hyperosmolar agents and barbituric coma. She was therefore submitted to selective catheterization of the superior sagittal sinus and continuous local fibrinolysis with urokinase for 72 hours. The outcome was satisfactory, with repermeabilisation of the thrombosed sinuses and a good clinical response with no complications. At present the patient has functional paresis of the right hand and receives treatment with oral anticoagulants. Conclusions. We advocate the use of early local fibrinolytic treatment with urokinase in children affected by thrombosis of the venous sinuses who do not respond to treatment with sodium heparin. We consider it necessary to include the molecular study of the G20210A mutation of the prothrombin gene in screening for prothrombotic risk factors in small children.