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Arq Neuropsiquiatr. 2006 Jun;64(2B):398-401.

MRI and 1H-MRS findings of three patients with Sjögren-Larsson syndrome.

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Sarah Network of Rehabilitation Hospitals, Av. Juscelino Kubitschek 4500, 60861-630 Fortaleza CE, Brazil.


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.

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