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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Aug 10;36(8):821-825. doi: 10.3760/cma.j.issn.1003-9406.2019.08.017.
[Article in 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.

MeSH terms

  • DNA Mutational Analysis
  • Galactosylceramidase / genetics*
  • Genetic Testing
  • Humans
  • Leukodystrophy, Globoid Cell / complications
  • Leukodystrophy, Globoid Cell / genetics*
  • Mutation
  • Peripheral Nervous System Diseases / etiology*

Substances

  • Galactosylceramidase