Peripheral neuropathy in a case with CADASIL: a case report
Abstract Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized clinically by central nervous system dysfunctions. It is unclear whether CADASIL is involved in peripheral neuropathy. Case presentation A 67-year-old Japanese ma...
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doaj-f95577f45f754600bce8daf6de01df8e2020-11-25T00:40:41ZengBMCBMC Neurology1471-23772018-08-011811410.1186/s12883-018-1131-3Peripheral neuropathy in a case with CADASIL: a case reportYusuke Sakiyama0Eiji Matsuura1Yoshimitsu Maki2Akiko Yoshimura3Masahiro Ando4Miwa Nomura5Kazuya Shinohara6Ryuji Saigo7Tomonori Nakamura8Akihiro Hashiguchi9Hiroshi Takashima10Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental SciencesDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental SciencesDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental SciencesDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental SciencesDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental SciencesDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental SciencesDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental SciencesDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental SciencesDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental SciencesDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental SciencesDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental SciencesAbstract Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized clinically by central nervous system dysfunctions. It is unclear whether CADASIL is involved in peripheral neuropathy. Case presentation A 67-year-old Japanese man with stepwise progression of sensory and motor neuropathy was admitted to our hospital. Peripheral neuropathy of the extremities was detected through electrophysiological and pathological studies, and brain magnetic resonance imaging revealed bilateral periventricular ischemic and thalamic hemorrhagic lesions. We diagnosed CADASIL after detecting granular osmiophilic material in the walls of the endoneurial vessels morphologically and identifying a heterozygous NOTCH3 mutation p.Arg75Pro. Conclusions CADASIL is to be included in the work-up of not classified peripheral neuropathies.http://link.springer.com/article/10.1186/s12883-018-1131-3CADASILPeripheral neuropathyMultiple mononeuropathyNOTCH3Granular osmiophilic material (GOM) |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Yusuke Sakiyama Eiji Matsuura Yoshimitsu Maki Akiko Yoshimura Masahiro Ando Miwa Nomura Kazuya Shinohara Ryuji Saigo Tomonori Nakamura Akihiro Hashiguchi Hiroshi Takashima |
spellingShingle |
Yusuke Sakiyama Eiji Matsuura Yoshimitsu Maki Akiko Yoshimura Masahiro Ando Miwa Nomura Kazuya Shinohara Ryuji Saigo Tomonori Nakamura Akihiro Hashiguchi Hiroshi Takashima Peripheral neuropathy in a case with CADASIL: a case report BMC Neurology CADASIL Peripheral neuropathy Multiple mononeuropathy NOTCH3 Granular osmiophilic material (GOM) |
author_facet |
Yusuke Sakiyama Eiji Matsuura Yoshimitsu Maki Akiko Yoshimura Masahiro Ando Miwa Nomura Kazuya Shinohara Ryuji Saigo Tomonori Nakamura Akihiro Hashiguchi Hiroshi Takashima |
author_sort |
Yusuke Sakiyama |
title |
Peripheral neuropathy in a case with CADASIL: a case report |
title_short |
Peripheral neuropathy in a case with CADASIL: a case report |
title_full |
Peripheral neuropathy in a case with CADASIL: a case report |
title_fullStr |
Peripheral neuropathy in a case with CADASIL: a case report |
title_full_unstemmed |
Peripheral neuropathy in a case with CADASIL: a case report |
title_sort |
peripheral neuropathy in a case with cadasil: a case report |
publisher |
BMC |
series |
BMC Neurology |
issn |
1471-2377 |
publishDate |
2018-08-01 |
description |
Abstract Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized clinically by central nervous system dysfunctions. It is unclear whether CADASIL is involved in peripheral neuropathy. Case presentation A 67-year-old Japanese man with stepwise progression of sensory and motor neuropathy was admitted to our hospital. Peripheral neuropathy of the extremities was detected through electrophysiological and pathological studies, and brain magnetic resonance imaging revealed bilateral periventricular ischemic and thalamic hemorrhagic lesions. We diagnosed CADASIL after detecting granular osmiophilic material in the walls of the endoneurial vessels morphologically and identifying a heterozygous NOTCH3 mutation p.Arg75Pro. Conclusions CADASIL is to be included in the work-up of not classified peripheral neuropathies. |
topic |
CADASIL Peripheral neuropathy Multiple mononeuropathy NOTCH3 Granular osmiophilic material (GOM) |
url |
http://link.springer.com/article/10.1186/s12883-018-1131-3 |
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