Clinical and genetic analysis of a patient with Krabbe disease presented as peripheral neuropathy / 中华医学遗传学杂志

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.