Peripheral neuropathy in a case with CADASIL: a case report

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...

Full description

Bibliographic Details
Main Authors: Yusuke Sakiyama, Eiji Matsuura, Yoshimitsu Maki, Akiko Yoshimura, Masahiro Ando, Miwa Nomura, Kazuya Shinohara, Ryuji Saigo, Tomonori Nakamura, Akihiro Hashiguchi, Hiroshi Takashima
Format: Article
Language:English
Published: BMC 2018-08-01
Series:BMC Neurology
Subjects:
CADASIL
Peripheral neuropathy
Multiple mononeuropathy
NOTCH3
Granular osmiophilic material (GOM)
Online Access:http://link.springer.com/article/10.1186/s12883-018-1131-3
Description
Summary: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.
ISSN:1471-2377

Similar Items