Neuroimaging in Susac's syndrome

TY - JOUR

T1 - Neuroimaging in Susac's syndrome

T2 - focus on DTI

AU - Kleffner, I

AU - Deppe, M

AU - Mohammadi, S

AU - Schwindt, W

AU - Sommer, J

AU - Young, P

AU - Ringelstein, E B

N1 - Copyright © 2010 Elsevier B.V. All rights reserved.

PY - 2010/12/15

Y1 - 2010/12/15

N2 - 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.

AB - 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.

KW - Adolescent

KW - Adult

KW - Anisotropy

KW - Corpus Callosum

KW - Diffusion Tensor Imaging

KW - Female

KW - Humans

KW - Male

KW - Middle Aged

KW - Nerve Fibers, Myelinated

KW - Severity of Illness Index

KW - Susac Syndrome

U2 - 10.1016/j.jns.2010.08.028

DO - 10.1016/j.jns.2010.08.028

M3 - SCORING: Journal article

C2 - 20850137

VL - 299

SP - 92

EP - 96

JO - J NEUROL SCI

JF - J NEUROL SCI

SN - 0022-510X

IS - 1-2

ER -