Clinical and genetic analysis of a patient with Krabbe disease presented as peripheral neuropathy.
10.3760/cma.j.issn.1003-9406.2019.08.017
- Author:
Wei WANG
1
;
Yali QIN
;
Renbin WANG
;
Weihe ZHANG
;
Linwei ZHANG
;
Lei CUI
;
Ming JIN
;
Yujuan JIAO
;
Jingsong JIAO
Author Information
1. Department of Neurology, China-Japan Friendship Hospital, Beijing 100029, China. jiao.yujuan@hotmail.com.
- Publication Type:Journal Article
- MeSH:
DNA Mutational Analysis;
Galactosylceramidase;
genetics;
Genetic Testing;
Humans;
Leukodystrophy, Globoid Cell;
complications;
genetics;
Mutation;
Peripheral Nervous System Diseases;
etiology
- From:
Chinese Journal of Medical Genetics
2019;36(8):821-825
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical, electrophysiological and imaging features of a patient with Krabbe disease caused by GALC mutation.
METHODS:A comprehensive analysis including clinical investigation and genetic testing was carried out.
RESULTS:The patient presented with peripheral neuropathy with electrophysiological anomaly suggestive of asymmetric demyelinating neuropathy. Brain imaging revealed leukoencephalopathy. Genetic analysis has identified compound heterozygous mutations in exons 5 and 11 of the GALC gene, namely c.461C>A and c.1244G>A.
CONCLUSION:Krabbe disease is a group of disorders featuring substantial phenotypic heterogeneity. Genetic and enzyme testing has become indispensable for accurate diagnosis for this disease.
