MRI and 1H-MRS findings of three patients with Sjögren-Larsson syndrome.
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.
Nakayama
Mauro
M
Sarah Network of Rehabilitation Hospitals, Av. Juscelino Kubitschek 4500, 60861-630 Fortaleza CE, Brazil. mauronakayama@sarah.br
Távora
Daniel G F
DG
Alvim
Thereza C L
TC
Araújo
Alexandre C B
AC
Gama
Rômulo L
RL
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*
D001224:Aspartic Acid; C000179:N-acetylaspartate