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Adult metachromatic leukodystrophy: case report

https://doi.org/10.14412/2074-2711-2021-2-86-90

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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. 

About the Authors

T. I. Prusova
V.F. Voyno-Yasenetskiy Krasnoyarsk State Medical University, Ministry of Healthcare of the Russian Federation
Russian Federation

 1, Partisan Zheleznyak St., Krasnoyarsk 660022, Russia 



P. A. Reznichenko
V.F. Voyno-Yasenetskiy Krasnoyarsk State Medical University, Ministry of Healthcare of the Russian Federation
Russian Federation

 1, Partisan Zheleznyak St., Krasnoyarsk 660022, Russia 



K. D. Yakovleva
V.F. Voyno-Yasenetskiy Krasnoyarsk State Medical University, Ministry of Healthcare of the Russian Federation
Russian Federation

 1, Partisan Zheleznyak St., Krasnoyarsk 660022, Russia 



D. V. Dmitrenko
V.F. Voyno-Yasenetskiy Krasnoyarsk State Medical University, Ministry of Healthcare of the Russian Federation
Russian Federation

 1, Partisan Zheleznyak St., Krasnoyarsk 660022, Russia 



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For citation:


Prusova T.I., Reznichenko P.A., Yakovleva K.D., Dmitrenko D.V. Adult metachromatic leukodystrophy: case report. Neurology, Neuropsychiatry, Psychosomatics. 2021;13(2):86-90. (In Russ.) https://doi.org/10.14412/2074-2711-2021-2-86-90

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ISSN 2074-2711 (Print)
ISSN 2310-1342 (Online)