[Analysis of phenotype and genotype in a family with late infantile metachromatic leukodystrophy].

OBJECTIVE

To study genotype-phenotype correlation of a family with late infantile metachromatic leukodystrophy(MLD).

METHODS

Clinical data were collected and ARSA gene was tested by PCR and sequencing in a pedigree.

RESULTS

The male proband onset with walking dysfunction at 19 months, arylsulfatase A activity of leucocyte from his peripheral blood was 20.2 nmol/mg.17h, and his cranial MRI showed wildly symmetrical demyelination. Homozygosis for novel c.622delC (p.His208Metfs46X) in exon 3 of ARSA gene was identified in proband, and heterozygous for the same mutation in parents and grandma of the proband.

CONCLUSION

Late infantile metachromatic leukodystrophy is characterized by rapid and progressive regression of neuropsychiatric and motor development. There is a significant correlation between the mutation of c.622delC(p.His208Metfs*46) in the ARSA gene and the phenotype presenting as O/O patients.