title: A case of Salla disease with involvement of the cerebellar white matter.
abstract: Salla disease (SD) is a lysosomal disorder manifesting in infancy with hypotonia, nystagmus, ataxia and retarded motor development. MRI typically shows hypomyelination confined to the cerebral white matter. We describe a patient with two MRI studies in addition to repeated urine examinations. This case was problematic because the first urine examination did not show the elevation of free sialic acid typical of SD and MRI was also atypical, with abnormal signal intensity in cerebellar white matter. We recommend repeated urinary examinations and a search for SLC17A5 mutations in patients with cerebral signal intensity abnormalities typical of SD and emphasise that cerebellar white-matter involvement on MRI does not exclude the diagnosis.
authors.affiliation: Department of Paediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Finland.
authors.forename: T
authors.initials: T
authors.lastname: Linnankivi
authors.forename: T
authors.initials: T
authors.lastname: Lönnqvist
authors.forename: T
authors.initials: T
authors.lastname: Autti
mesh_terms: D002531:Cerebellum / Q000473:pathology*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D019158:N-Acetylneuraminic Acid / Q000652:urine; D029461:Sialic Acid Storage Disease / Q000175:diagnosis*
chemical_list: D019158:N-Acetylneuraminic Acid