Abstract： Objective To explore the clinical, radiological and emzymic features and gene mutation features of GALC gene in children with Krabbe disease. Methods The clinical, radiological and emzymic features of 3 unrelated children with Krabbe disease in the Guangzhou Women and Children’s Medical Centre from Jun.2010 to Dec.2012 were retrospectively reviewed. The galactocerebrosidase activity in leukocytes was detected by fluorescent substrate method. The mutation analysis of GALC gene was performed by RT-PCR and direct sequencing. Results Three index cases were diagnosed at ages ranging from 3～40 months after birth. They were 1 female with infantile form and 2 male with late-infantile form. They were admitted to our hospital for crying，irritation, convulsion, psychomotor retardation or regression. Brain MRI showed symmetric signal changes in the posterior limb of the internal capsule and the periventricular white matter. MRS revealed a reduction of total N-acetylaspartate （neuroaxonal marker） as well as strongly elevated inositol （ glial marker） in white matter and the posterior limb of the internal capsule. The galactocerebrosidase activities of the 3 patients were remarkably low，ranging from 0～0.2 nmol/（mg·17 h） protein（normal range 18～75）. Five different mutations were identified , three （p.D46Y，p.G59S and p.P154H） of which were novel in the GALC gene. Followed up for 18 months，2 cases died and one became more serious progressively. Conclusion The clinical features of Krabbe disease are irritability，convulsion，psychomotor retardation or regression. The earlier the onset，the faster the progress. It should be highly suspected when brain MRI shows symmetric white matter changes. The test of galactocerebrosidase activity and the molecular genetic assay of GALC gene can confirm the definite diagnosis of Krabbe disease.
