[Clinical and genetic analysis of a patient with Krabbe disease presented as peripheral neuropathy].

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.