nnpNeurology, Neuropsychiatry, PsychosomaticsНеврология, нейропсихиатрия, психосоматика2074-27112310-1342"IMA-Press", LLC10.14412/2074-2711-2021-2-86-90nnp-1545Research ArticleCLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯAdult metachromatic leukodystrophy: case reportМетахроматическая лейкодистрофия взрослых: клинический случайПрусоваТ. И.PrusovaT. I.

 Россия, 660022, Красноярск, ул. Партизана Железняка, 1 

 1, Partisan Zheleznyak St., Krasnoyarsk 660022, Russia 

РезниченкоП. А.ReznichenkoP. A.

 Россия, 660022, Красноярск, ул. Партизана Железняка, 1 

 1, Partisan Zheleznyak St., Krasnoyarsk 660022, Russia 

ЯковлеваК. Д.YakovlevaK. D.

 Россия, 660022, Красноярск, ул. Партизана Железняка, 1 

 1, Partisan Zheleznyak St., Krasnoyarsk 660022, Russia 

ДмитренкоД. В.DmitrenkoD. V.

 Россия, 660022, Красноярск, ул. Партизана Железняка, 1 

 1, Partisan Zheleznyak St., Krasnoyarsk 660022, Russia 

mart2802@yandex.ruФГБОУ ВО «Красноярский государственный медицинский университет им. профессора В.Ф. Войно-Ясенецкого» Минздрава РоссииРоссияV.F. Voyno-Yasenetskiy Krasnoyarsk State Medical University, Ministry of Healthcare of the Russian FederationRussian Federation2021230420211328690Copyright © Prusova T.I., Reznichenko P.A., Yakovleva K.D., Dmitrenko D.V., 20212021Прусова Т.И., Резниченко П.А., Яковлева К.Д., Дмитренко Д.В.Prusova T.I., Reznichenko P.A., Yakovleva K.D., Dmitrenko D.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://nnp.ima-press.net/nnp/article/view/1545

 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. 

 Метахроматическая лейкодистрофия (МЛД) – наследственное заболевание из группы лизосомных болезней накопления с аутосомно-рецессивным типом наследования, встречающееся во всех возрастных группах. В настоящее время известны следующие формы заболевания: позднедетская (наиболее распространенная), ювенильная (ранняя и поздняя) и взрослая, с манифестацией заболевания после 16 лет. Представленный клинический случай демонстрирует взрослую форму МЛД у пациентки 24 лет с основными проявлениями в виде  когнитивных нарушений, включая снижение памяти, критики,  коммуникативных навыков, способности к самообслуживанию. При  проведении магнитно-резонансной томографии выявлено обширное  симметричное перивентрикулярное поражение белого вещества головного мозга без признаков вовлечения стволовых структур и  повышения уровня лактата. По данным секвенирования экзома у  пациентки обнаружены две патогенные мутации гена ARSA.  Обсуждаются клинико-генетические особенности взрослой формы МЛД и современные подходы к терапии заболевания. 

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The authors declare that there are no conflicts of interest present.