title: Spinal muscular atrophy with oculomotor palsy, epilepsy, and cerebellar hypoperfusion.
abstract: We report a boy with spinal muscular atrophy (SMA) type 1, who developed novel clinical and neuroradiologic features, indicating the broad spectrum of this degenerative disease. Widespread lesions in the central nervous system were disclosed by magnetic resonance imaging and single photon emission computed tomography (SPECT) studies. In particular, scattered regions of hypoperfusion demonstrated by SPECT suggested multisystem involvement including the cerebellum. The novel features of this patient were complex partial seizures and oculomotor palsy.
authors.affiliation: Department of Pediatrics, University of Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Oka
authors.forename: Y
authors.initials: Y
authors.lastname: Matsushita
authors.forename: Y
authors.initials: Y
authors.lastname: Sakakihara
authors.forename: T
authors.initials: T
authors.lastname: Momose
authors.forename: M
authors.initials: M
authors.lastname: Yanaginasawa
mesh_terms: D002531:Cerebellum / Q000098:blood supply*; D002648:Child; D004569:Electroencephalography; D017029:Epilepsy, Complex Partial / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D015840:Oculomotor Nerve Diseases / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D012039:Regional Blood Flow; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D015899:Tomography, Emission-Computed, Single-Photon