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[Clinical and genetic analysis of a patient with Krabbe disease presented as peripheral neuropathy]
Wei Wang1, Yali Qin, Renbin Wang
1Department of Neurology, China-Japan Friendship Hospital, Beijing 100029, China. jiao.yujuan@hotmail.com.
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.
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