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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| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.08.017 | DOI Listing |
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