A Chinese case of adult-onset autosomal dominant leukodystrophy and literature review

Abstract

Objective To explore the clinical, hereditary, imaging features and genetic testing results of adult-onset autosomal dominant leukodystrophy (ADLD), hoping to help physicians recognize this rare disease early. Methods The first Chinese case of ADLD in a 52-year-old male was reported. Important laboratory data including brain MRI and genetic findings were summarized. The related literatures were also reviewed. Results The patient presented with insidious onset of constipation and erectile dysfunction, and then got worse progressively. Brain MRI showed extensive and symmetrical white matter hyperintensities, predominantly involving cerebral white matter and the middle cerebellar peduncles. A duplication of 1-11 coding exons in the LMNB1 gene was identified in this case. Several affected members with a homogeneous phenotype were found in the family. Conclusion LMNB1-related ADLD should be considered as a diagnostic possibility for patients with autonomic dysfunction and symmetrical white-matter abnormalities. Key words: Leukodystrophy; Chromosome disorders; Genes, dominant; LMNB1 gene