Adult-onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report.

ABSTRACT:

Background

The most frequent and common form of Krabbe disease (KD) is early-onset KD in infants, and late-onset KD has been reported to be a rare disease. In the present study, we reported an adult-onset KD patient in a consanguineous Chinese family.

Methods

Clinical and radiological data were collected for a family pedigree. The patient was diagnosed with late-onset KD through next-generation sequencing. The result was confirmed by Sanger sequencing. GALC enzyme activity was also examined by the colorimetry method. Both the grey matter volume (GMV) and white matter volume values were examined and compared with the average values from ten age-matched normal controls. Moreover, we reviewed all the available KD studies on PubMed to understand the correlation between the pheno

SUBMITTER: Xia Z 

PROVIDER: S-EPMC7507702 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature