Arterial ischemic stroke in a child with beta-thalassemia trait and methylentetrahydrofolate reductase mutation.
Genetic and acquired disorders that foster a procoagulable state represent risk factors for stroke in childhood. Although an increased incidence of thromboembolic complications has been reported in patients with thalassemia, severe cerebral thromboembolism has rarely been observed in patients with beta-thalassemia minor. This article describes a case study of a 1-year-old boy who presented with left-sided hemiparesis, seizures, microcytic anemia, and recent infection with reactive thrombocytosis. Ischemic infarction in the territory of the right middle cerebral artery was confirmed by magnetic resonance imaging and magnetic resonance angiography. Genetic tests showed that the patient was heterozygous for the beta(degrees) -thalassemia IVS-I-1 mutation and homozygous for the methylentetrahydrofolate reductase C677T mutation. Based on these findings, it was concluded that the synergistic effects of multiple, genetic, and acquired prothrombotic risk factors brought about the hypercoagulable state that resulted in overt stroke in a thalassemic patient in early childhood.
Brankovic-Sreckovic
Vesna
V
Clinic for Child Neurology and Psychiatry, Medical Faculty, University of Belgrade, Serbia. vladas@infosky.net
Milic Rasic
Vedrana
V
Djordjevic
Valentina
V
Kuzmanovic
Milos
M
Pavlovic
Sonja
S
D002539:Cerebral Arterial Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D002546:Ischemic Attack, Transient / Q000150:complications / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D017086:beta-Thalassemia / Q000150:complications / Q000235:genetics*
D042965:Methylenetetrahydrofolate Reductase (NADPH2)