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BMC Neurology
Published in: BMC Neurology 1/2018

Open Access 01-12-2018 | Case report

Peripheral neuropathy in a case with CADASIL: a case report

Authors: Yusuke Sakiyama, Eiji Matsuura, Yoshimitsu Maki, Akiko Yoshimura, Masahiro Ando, Miwa Nomura, Kazuya Shinohara, Ryuji Saigo, Tomonori Nakamura, Akihiro Hashiguchi, Hiroshi Takashima

Published in: BMC Neurology | Issue 1/2018

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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.
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Metadata
Title
Peripheral neuropathy in a case with CADASIL: a case report
Authors
Yusuke Sakiyama
Eiji Matsuura
Yoshimitsu Maki
Akiko Yoshimura
Masahiro Ando
Miwa Nomura
Kazuya Shinohara
Ryuji Saigo
Tomonori Nakamura
Akihiro Hashiguchi
Hiroshi Takashima
Publication date
01-12-2018
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2018
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/s12883-018-1131-3

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