Adult metachromatic leukodystrophy: case report

Abstract

Metachromatic leukodystrophy (MLD) is a hereditary lysosomal storage disease inherited in an autosomal recessive pattern, which occurs across all age groups. Currently, several forms of the disease are established: late infantile (the most common), juvenile (early and late), and adult, which manifests after the age of 16 years. This case report demonstrates an adult MLD in a 24-year-old woman presented with cognitive impairment, including memory deficits, judgement, communication, and self-care skills decline. Magnetic resonance imaging findings revealed massive symmetrical periventricular white matter lesions without signs of brainstem involvement and increased lactate level. Whole exome sequencing revealed two ARSA gene mutations. Clinical and genetic characteristics of the adult MLD and modern treatment approaches are discussed.

Keywords

• metachromatic leukodystrophy
• adult form
• arylsulfatase a
• cognitive impairment
• hematopoietic stem cell transplantation