Diffusion-Weighted Magnetic Resonance Imaging and Proton Magnetic Resonance Spectroscopy of Sjögren-Larsson Syndrome: Case Report.

Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive congenital disorder that affects mainly skin and central nervous system. It is characterized by spastic diplegia or tetraplegia, mental retardation and congenital ichthyosis. We report a 2-year-old patient with SLS in whom both mildly res...

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Detalles Bibliográficos
Publicado en:Turkiye Klinikleri Journal of Medical Sciences Vol. 31; no. 6; pp. 1578 - 1585
Autores principales: Karadeli, Elif, Ulu, E. Meltem Kayahan, Teksam, Mehmet
Formato: case study diagnostic images tracings Journal Article
Publicado: Turkiye Klinikleri Nov/Dec2011
Acceso en línea:Ver este registro en EBSCOhost
Descripción
Sumario:Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive congenital disorder that affects mainly skin and central nervous system. It is characterized by spastic diplegia or tetraplegia, mental retardation and congenital ichthyosis. We report a 2-year-old patient with SLS in whom both mildly restricted diffusion of water in immediate periventricular white matter and mildly increased diffusion of water in the rest of periventricular white matter were observed on diffusion-weighted images. Brain magnetic resonance spectroscopy demonstrated typical high, sharp lipid peak at 1.3 ppm that was stable at long TEs.