Objective To investigate the clinical, biochemical and genetic features of a Chinese boy with early-onset globoid 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 ventricles 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) activity in the peripheral leucocytes was significantly 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-onset GLD is a rare autosomal-recessive hereditary lysosomal storage disease with a terrible prognosis, in which beta-galactose glucoside enzyme deficiency is induced by GALC gene mutation. The diagnosis of early-onset GLD is difficult and should depend on enzyme assay and gene testing.
Zhang Yao
,
Ding Yuan
,
Song Jinqing
,
Li Xiyuan
,
Wang Qiao
,
Liu Yupeng
,
Yang Yanling
. The clinical and genetic features of early-onset globoid cell leukodystrophy in one boy[J]. Journal of Clinical Pediatrics, 2014
, 32(10)
: 976
.
DOI: 10.3969 j.issn.1000-3606.2014.10.020