The clinical and genetic features of early-onset globoid cell leukodystrophy in one boy

  • Zhang Yao ,
  • Ding Yuan ,
  • Song Jinqing ,
  • Li Xiyuan ,
  • Wang Qiao ,
  • Liu Yupeng ,
  • Yang Yanling
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  • Department of Pediatrics, Peking University First Hospital, Beijing 100034, China

Received date: 2014-10-15

  Online published: 2014-10-15

Abstract

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.

Cite this article

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

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