title: MRI and 1H-MRS findings of three patients with Sjögren-Larsson syndrome.
abstract: Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. Patients present the classical triad of congenital ichthyosis, mental retardation and spastic di- or tetraplegia. Magnetic resonance imaging (MRI) of the brain usually shows hypomyelination involving the periventricular white matter. Cerebral proton MR spectroscopy ((1)H-MRS) reveals a characteristic abnormal lipid peak. We report three cases of SLS from different families with the typical clinical triad. The MRI and (1)H-MRS findings are discussed.
authors.affiliation: Sarah Network of Rehabilitation Hospitals, Av. Juscelino Kubitschek 4500, 60861-630 Fortaleza CE, Brazil. mauronakayama@sarah.br
authors.forename: Mauro
authors.initials: M
authors.lastname: Nakayama
authors.forename: Daniel G F
authors.initials: DG
authors.lastname: Távora
authors.forename: Thereza C L
authors.initials: TC
authors.lastname: Alvim
authors.forename: Alexandre C B
authors.initials: AC
authors.lastname: Araújo
authors.forename: Rômulo L
authors.initials: RL
authors.lastname: Gama
mesh_terms: D000293:Adolescent; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000378:metabolism; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D050356:Lipid Metabolism; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D016111:Sjogren-Larsson Syndrome / Q000473:pathology*
chemical_list: D001224:Aspartic Acid; C000179:N-acetylaspartate