Peripheral neuropathy in a case with CADASIL: a case report.
BMC Neurol
; 18(1): 134, 2018 Aug 31.
Article
em En
| MEDLINE
| ID: mdl-30170552
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças do Sistema Nervoso Periférico
/
CADASIL
Tipo de estudo:
Prognostic_studies
Limite:
Aged
/
Humans
/
Male
Idioma:
En
Revista:
BMC Neurol
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Japão