The clinical and genetic features of early-onset globoid cell leukodystrophy in one boy / 临床儿科杂志

ABSTRACT

Objective To investigate the clinical, biochemical and genetic features of a Chinese boy with early-onset glo-boid cell leukodystrophy (GLD). Methods The clinical and genetic data of a rare case of early-onset GLD were retrospectively analysed. Results At 2 months after birth, the boy showed progressive psychomotor regression. At 4 months of age when the boy was taken to a doctor, the pyramidal sign was positive. The cranial MRI showed that the body of the lateral cerebral ventri-cles was slightly enlarged and the brain ditch crack of frontal-temporal-parietal lobe was widened and deepened. On his brain CT scan, high signals in bilateral basal ganglia, thalami, cerebellar hemisphere were observed.β-galactosylceramidase (GALC) ac-tivity in the peripheral leucocytes was signiifcantly decreased (3.9 nmol/g protein.h). On his GALC gene, one homozygous novel mutation c.868C>T on exon 8 was found, which resulted in the amino acid change on p.R290C proteins. Conclutions Early-on-set GLD is a rare autosomal-recessive hereditary lysosomal storage disease with a terrible prognosis, in which beta-galactose glu-coside enzyme deifciency is induced by GALC gene mutation. The diagnosis of early-onset GLD is dififcult and should depend on enzyme assay and gene testing.