BACKGROUND: Susac's syndrome is an underdiagnosed disease that is thought to occur mainly in young women. It is characterized by the triad of hearing loss, branch retinal artery occlusions, and encephalopathy with predominantly cognitive and psychiatric symptoms. Treatment consists of immunosuppressive therapy. Focal ischemic lesions in the central portion of the corpus callosum detectable by conventional MRI ("snowballs") are a typical feature of Susac's syndrome. The appearance of these lesions is not, however, correlated with the type and severity of the neuropsychological deficits. METHODS: Nine patients with Susac's syndrome, four men and five women, were investigated using Diffusion Tensor Imaging (DTI), a non-invasive technique for the detection of macro- and microstructural impairment of fiber integrity on the basis of normal values for the fractional anisotropy (FA). Patients were compared to a group of 83 healthy controls on a voxel-by-voxel basis. Several regions of interest were defined. RESULTS: Impairment of fiber integrity was found in every patient. As compared to the controls, every patient showed disruption of fiber integrity in the genu of the corpus callosum. Reduction of FA was found particularly in the prefrontal white matter. CONCLUSION: The type and severity of the encephalopathic symptoms in Susac's syndrome are much better represented by the prefrontal FA reductions detected by DTI than by the mostly sparse white matter abnormalities seen on conventional MRI. The fiber damage in the genu seems to be specific for patients with Susac's syndrome.
BACKGROUND:Susac's syndrome is an underdiagnosed disease that is thought to occur mainly in young women. It is characterized by the triad of hearing loss, branch retinal artery occlusions, and encephalopathy with predominantly cognitive and psychiatric symptoms. Treatment consists of immunosuppressive therapy. Focal ischemic lesions in the central portion of the corpus callosum detectable by conventional MRI ("snowballs") are a typical feature of Susac's syndrome. The appearance of these lesions is not, however, correlated with the type and severity of the neuropsychological deficits. METHODS: Nine patients with Susac's syndrome, four men and five women, were investigated using Diffusion Tensor Imaging (DTI), a non-invasive technique for the detection of macro- and microstructural impairment of fiber integrity on the basis of normal values for the fractional anisotropy (FA). Patients were compared to a group of 83 healthy controls on a voxel-by-voxel basis. Several regions of interest were defined. RESULTS: Impairment of fiber integrity was found in every patient. As compared to the controls, every patient showed disruption of fiber integrity in the genu of the corpus callosum. Reduction of FA was found particularly in the prefrontal white matter. CONCLUSION: The type and severity of the encephalopathic symptoms in Susac's syndrome are much better represented by the prefrontal FA reductions detected by DTI than by the mostly sparse white matter abnormalities seen on conventional MRI. The fiber damage in the genu seems to be specific for patients with Susac's syndrome.
Authors: V T Lehman; D A Doolittle; C H Hunt; L J Eckel; D F Black; K M Schwartz; F E Diehn Journal: AJNR Am J Neuroradiol Date: 2013-07-04 Impact factor: 3.825
Authors: Katherine A Buzzard; Stephen W Reddel; Con Yiannikas; D Sean Riminton; Michael H Barnett; Todd A Hardy Journal: J Neurol Date: 2014-12-30 Impact factor: 4.849
Authors: Jan Dörr; Sarah Krautwald; Brigitte Wildemann; Sven Jarius; Marius Ringelstein; Thomas Duning; Orhan Aktas; Erich Bernd Ringelstein; Friedemann Paul; Ilka Kleffner Journal: Nat Rev Neurol Date: 2013-04-30 Impact factor: 42.937
Authors: Alexander U Brandt; Hanna Zimmermann; Falko Kaufhold; Julia Promesberger; Sven Schippling; David Finis; Orhan Aktas; Christian Geis; Marius Ringelstein; E Bernd Ringelstein; Hans-Peter Hartung; Friedemann Paul; Ilka Kleffner; Jan Dörr Journal: PLoS One Date: 2012-06-11 Impact factor: 3.240
Authors: Catharina C Gross; Céline Meyer; Urvashi Bhatia; Lidia Yshii; Ilka Kleffner; Jan Bauer; Anna R Tröscher; Andreas Schulte-Mecklenbeck; Sebastian Herich; Tilman Schneider-Hohendorf; Henrike Plate; Tanja Kuhlmann; Markus Schwaninger; Wolfgang Brück; Marc Pawlitzki; David-Axel Laplaud; Delphine Loussouarn; John Parratt; Michael Barnett; Michael E Buckland; Todd A Hardy; Stephen W Reddel; Marius Ringelstein; Jan Dörr; Brigitte Wildemann; Markus Kraemer; Hans Lassmann; Romana Höftberger; Eduardo Beltrán; Klaus Dornmair; Nicholas Schwab; Luisa Klotz; Sven G Meuth; Guillaume Martin-Blondel; Heinz Wiendl; Roland Liblau Journal: Nat Commun Date: 2019-12-18 Impact factor: 14.919
Authors: P Johnson; J K Chan; I M Vavasour; S Abel; L E Lee; H Yong; C Laule; Dkb Li; R Tam; A Traboulsee; R L Carruthers; S H Kolind Journal: Mult Scler J Exp Transl Clin Date: 2022-02-14