title: Thalamic lesions in a long-surviving child with spinal muscular atrophy type I: MRI and EEG findings.
abstract: Brain magnetic resonance imaging was conducted in a girl with genetically confirmed spinal muscular atrophy (SMA) type I. This patient has survived 6 years, to date, under mechanical ventilation. T2-weighted and fluid-attenuated inversion recovery images revealed high signal intensity lesions in the anterolateral portions of the bilateral thalami. Electroencephalography disclosed diffuse beta activity upon awakening and during light sleep. In addition, fast and prolonged spindles were observed. Although mild neuronal changes in the lateral nucleus of the thalamus have been described in several autopsied cases, this is the first study to demonstrate neuroradiologically and neurophysiologically the thalamic lesions in genetically confirmed SMA type I.
authors.affiliation: Department of Pediatrics, Metropolitan Fuchu Medical Center for Severe Motor and Intellectual Disabilities, Tokyo, Japan. ymitoh@cf6.so-net.ne.jp
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Ito
authors.forename: Satoko
authors.initials: S
authors.lastname: Kumada
authors.forename: Akira
authors.initials: A
authors.lastname: Uchiyama
authors.forename: Kayoko
authors.initials: K
authors.lastname: Saito
authors.forename: Makiko
authors.initials: M
authors.lastname: Osawa
authors.forename: Akira
authors.initials: A
authors.lastname: Yagishita
authors.forename: Kiyoko
authors.initials: K
authors.lastname: Kurata
authors.forename: Masaharu
authors.initials: M
authors.lastname: Hayashi
mesh_terms: D002648:Child; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D011859:Radiography; D014897:Spinal Muscular Atrophies of Childhood / Q000000981:diagnostic imaging* / Q000473:pathology*; D013788:Thalamus / Q000000981:diagnostic imaging* / Q000473:pathology*