Diffusion tensor imaging in a case of Kearns-Sayre syndrome

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Diffusion tensor imaging in a case of Kearns-Sayre syndrome : striking brainstem involvement as a possible cause of oculomotor symptoms. / Duning, Thomas; Deppe, Michael; Keller, Simon; Mohammadi, Siawoosh; Schiffbauer, Hagen; Marziniak, Martin.

in: J NEUROL SCI, Jahrgang 281, Nr. 1-2, 15.06.2009, S. 110-2.

Publikationen: SCORING: Beitrag in Fachzeitschrift/ZeitungSCORING: ZeitschriftenaufsatzForschungBegutachtung

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@article{205d88529b144c4eaf963b6e1ca24c00,
title = "Diffusion tensor imaging in a case of Kearns-Sayre syndrome: striking brainstem involvement as a possible cause of oculomotor symptoms",
abstract = "Kearns-Sayre syndrome (KSS) is a rare autosomal dominant mitochondrial disorder affecting the central nervous system. Progressive external ophthalmoplegia is an early and characteristic clinical symptom of the disease. We describe a 22-year-old female patient with a typical KSS including early and severe external ophthalmoplegia. Conventional MRI and diffusion tensor imaging (DTI) was performed to investigate the early involvement of the central nervous system (CNS). DTI revealed substantial white matter alterations that were primarily confined to the brainstem. These early DTI changes support the hypothesis that regional affection of the brainstem may play a role in the pathogenesis of the early oculomotor symptoms. DTI might be helpful to detect an early involvement of the CNS in KSS.",
keywords = "Brain, Brain Stem, Diffusion Magnetic Resonance Imaging, Female, Humans, Kearns-Sayre Syndrome, Magnetic Resonance Imaging, Nerve Fibers, Myelinated, Ocular Motility Disorders, Young Adult",
author = "Thomas Duning and Michael Deppe and Simon Keller and Siawoosh Mohammadi and Hagen Schiffbauer and Martin Marziniak",
year = "2009",
month = jun,
day = "15",
doi = "10.1016/j.jns.2009.03.007",
language = "English",
volume = "281",
pages = "110--2",
journal = "J NEUROL SCI",
issn = "0022-510X",
publisher = "Elsevier",
number = "1-2",

}

RIS

TY - JOUR

T1 - Diffusion tensor imaging in a case of Kearns-Sayre syndrome

T2 - striking brainstem involvement as a possible cause of oculomotor symptoms

AU - Duning, Thomas

AU - Deppe, Michael

AU - Keller, Simon

AU - Mohammadi, Siawoosh

AU - Schiffbauer, Hagen

AU - Marziniak, Martin

PY - 2009/6/15

Y1 - 2009/6/15

N2 - Kearns-Sayre syndrome (KSS) is a rare autosomal dominant mitochondrial disorder affecting the central nervous system. Progressive external ophthalmoplegia is an early and characteristic clinical symptom of the disease. We describe a 22-year-old female patient with a typical KSS including early and severe external ophthalmoplegia. Conventional MRI and diffusion tensor imaging (DTI) was performed to investigate the early involvement of the central nervous system (CNS). DTI revealed substantial white matter alterations that were primarily confined to the brainstem. These early DTI changes support the hypothesis that regional affection of the brainstem may play a role in the pathogenesis of the early oculomotor symptoms. DTI might be helpful to detect an early involvement of the CNS in KSS.

AB - Kearns-Sayre syndrome (KSS) is a rare autosomal dominant mitochondrial disorder affecting the central nervous system. Progressive external ophthalmoplegia is an early and characteristic clinical symptom of the disease. We describe a 22-year-old female patient with a typical KSS including early and severe external ophthalmoplegia. Conventional MRI and diffusion tensor imaging (DTI) was performed to investigate the early involvement of the central nervous system (CNS). DTI revealed substantial white matter alterations that were primarily confined to the brainstem. These early DTI changes support the hypothesis that regional affection of the brainstem may play a role in the pathogenesis of the early oculomotor symptoms. DTI might be helpful to detect an early involvement of the CNS in KSS.

KW - Brain

KW - Brain Stem

KW - Diffusion Magnetic Resonance Imaging

KW - Female

KW - Humans

KW - Kearns-Sayre Syndrome

KW - Magnetic Resonance Imaging

KW - Nerve Fibers, Myelinated

KW - Ocular Motility Disorders

KW - Young Adult

U2 - 10.1016/j.jns.2009.03.007

DO - 10.1016/j.jns.2009.03.007

M3 - SCORING: Journal article

C2 - 19344916

VL - 281

SP - 110

EP - 112

JO - J NEUROL SCI

JF - J NEUROL SCI

SN - 0022-510X

IS - 1-2

ER -