title: Central nervous system abnormalities in asymptomatic young patients with Sbeta-thalassemia.
abstract: Twenty-one children and young adults with sickle/beta-thalassemia without overt stroke were examined with magnetic resonance imaging and angiography (MRA), transcranial Doppler (TCD), visual (VEP) and median nerve somatosensory (SEP)-evoked potential recordings, and neuropsychological testing (Wechsler Intelligence Scale [WISC-III]). Eight (38%) had silent infarction in the parietooccipital cortex, deep white matter, or basal ganglia, including two of three with previous seizures. Of 17 undergoing TCD, none had maximum middle cerebral artery (MCA) velocities greater than 126cm/sec, but 9 were abnormal, with low velocities and difficulty in tracking the MCA and/or asymmetry. Three patients had abnormal MRA, one of whom also had silent infarction. One patient had pathological VEP recordings, whereas all SEP recordings were normal. WISC-III was performed in all 11 children, 4 with silent infarction: all but 1 had IQ scores greater than 85 (mean, 97.7; standard deviation, 14.2). We conclude that Greek children and young adults with Sbeta-thalassemia and no history of clinical stroke have TCD abnormalities and silent infarction similar to those reported in children and adolescents with sickle cell anemia, but cognitive function is not necessarily compromised. International collaboration is needed to establish the risk factors for central nervous system sequelae in patients with sickle cell disease, including Sbeta-thalassemia, leading to evidence-based prevention.
authors.affiliation: First Pediatric Clinic, Aristotle University of Thessaloniki, Greece. jeff@med.auth.gr
authors.forename: Dimitrios I
authors.initials: DI
authors.lastname: Zafeiriou
authors.forename: Mara
authors.initials: M
authors.lastname: Prengler
authors.forename: Nikos
authors.initials: N
authors.lastname: Gombakis
authors.forename: Konsantinos
authors.initials: K
authors.lastname: Kouskouras
authors.forename: Marina
authors.initials: M
authors.lastname: Economou
authors.forename: Achileas
authors.initials: A
authors.lastname: Kardoulas
authors.forename: Chaido
authors.initials: C
authors.lastname: Tsantali
authors.forename: Athanasios
authors.initials: A
authors.lastname: Dimitriadis
authors.forename: Miranta
authors.initials: M
authors.lastname: Athanasiou
authors.forename: Fenella J
authors.initials: FJ
authors.lastname: Kirkham
mesh_terms: D000293:Adolescent; D000328:Adult; D002490:Central Nervous System / Q000473:pathology* / Q000503:physiopathology; D002544:Cerebral Infarction / Q000473:pathology / Q000503:physiopathology; D002560:Cerebrovascular Circulation / Q000502:physiology; D002648:Child; D005073:Evoked Potentials, Somatosensory / Q000502:physiology; D005074:Evoked Potentials, Visual / Q000502:physiology; D005260:Female; D006801:Humans; D018810:Magnetic Resonance Angiography / Q000379:methods; D008297:Male; D009483:Neuropsychological Tests; D017585:Ultrasonography, Doppler, Transcranial / Q000379:methods; D017086:beta-Thalassemia / Q000473:pathology* / Q000503:physiopathology