ksmaКубанский научный медицинский вестникKuban Scientific Medical Bulletin1608-62282541-9544Kuban State Medical University10.25207/1608-6228-2020-27-4-149-160ksma-2301Research ArticleОБЗОРЫREVIEWСовременные представления о лейкоэнцефалопатии с поражением ствола головного мозга и спинного мозга и повышенным содержанием лактатаModern views of brainstem and spinal cord leukoencephalopathy with increased lactate contenthttps://orcid.org/0000-0001-8731-2565РябченкоА. Ю.RyabchenkoA. Yu.

Рябченко Александр Юрьевич — кандидат медицинских наук; доцент кафедры неврологии, медицинской генетики

ул. Советская, д. 6, г. Оренбург, 460000тел.: +7 (912) 849-78-66 

Aleksandr Yu. Ryabchenko — Cand. Sci. (Med.), Assoc. Prof., Chair of Neurology and Medical Genetics

Sovetskaya str., 6, Orenburg, 460000tel.: +7 (912) 849-78-66 

nevrolog2007@inbox.ruhttps://orcid.org/0000-0002-0486-061XГубинаА. Е.GubinaA. E.

Губина Анастасия Евгеньевна — клинический ординатор кафедры клинической медицины

ул. Советская, д. 6, г. Оренбург, 460000

Anastasia Е. Gubina — Clinical Resident, Chair of Clinical Medicine

Sovetskaya str., 6, Orenburg, 460000

Федеральное государственное бюджетное образовательное учреждение высшего образования «Оренбургский государственный медицинский университет» Министерства здравоохранения Российской ФедерацииРоссияOrenburg State Medical UniversityRussian Federation202014082020274149160Copyright © Рябченко А.Ю., Губина А.Е., 20202020Рябченко А.Ю., Губина А.Е.Ryabchenko A.Y., Gubina A.E.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://ksma.elpub.ru/jour/article/view/2301

В обзорной статье представлены современные литературные данные о редком генетическом заболевании — лейкоэнцефалопатии с поражением ствола головного мозга и спинного мозга и повышенным содержанием лактата. Описана история изучения заболевания. Изложены эпидемиологические данные о распространенности заболевания в популяции. Уделено внимание этиологии лейкоэнцефалопатии и описаны характерные генетические и патоморфологические изменения, связанные с мутацией в гене DARS2 и характеризующиеся недостаточностью митохондриальной аспартил т-РНК синтетазы. В обзоре дано описание специфической клинической картины, особенности клинических проявлений в различных возрастных периодах и указан ряд заболеваний, имеющих сходные клинические симптомы и патоморфологические изменения и требующих дифференциального диагноза. В статье показаны современные диагностические подходы к выявлению заболевания, с использованием прежде всего приемов нейровизуализации. Основным методом нейровизуализации лейкоэнцефалопатии является магнитно-резонансная томография, которая позволяет обнаружить специфические паттерны изменений, характерные для лейкоэнцефалопатии с поражением ствола головного мозга и спинного мозга, а магнитно-резонансная спектрометрия используется для уточнения содержания лактата в пораженном белом веществе головного мозга, которое чаще всего повышается. Окончательная верификация диагноза основана на выявлении у пациентов с характерной клинической картиной и изменениями при магнитно-резонансной томографии головного и спинного мозга мутации в гене DARS2. В обзоре представлена информация о современных методах лечения заболевания, основанных на патогенетическом воздействии, потенциально ограничивающем прогрессирование патологии, однако в связи с наличием генетической мутации основным подходом к лечению остается симптоматическая терапия.

The review considers modern evidence on a rare genetic disease, leukoencephalopathy of brainstem and spinal cord associated with elevated lactate content. The research history of the disease is described. The epidemiology of the disease prevalence in a population is described. Emphasis is placed on aetiology of leukoencephalopathy and peculiar genetic and pathomorphological changes associated with a DARS2 gene mutation leading to mitochondrial aspartyl-tRNA synthetase deficiency. The review details the clinical picture, manifestations specific in various age groups and identifies diseases with similar clinical symptoms and morbid changes that require differential diagnosis. Modern relevant diagnostic approaches are outlined based primarily on neuroimaging techniques. The major neuroimaging approach to leukoencephalopathy is magnetic resonance imaging that allows detection of disease-specific lesion patterns in the brainstem and spinal cord. Magnetic resonance spectrometry is used in turn to detect a usually higher lactate content in the affected white matter of the brain. Definitive diagnosis is based on detection of the marker DARS2 mutation in patients with characteristic clinical picture and MRI signatures in the brain and spinal cord. The review describes contemporary treatment strategies utilising pathogenetic effects to potentially contain the disease. However, its genetic determination renders symptomatic therapy yet a common treatment.

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