Abstract
Leukoencephalopathy with predominant lesion of the brain stem, spinal cord and high blood lactate in the MR spectroscopy is a hereditary disease characterized by slowly progressing cerebellar, pyramidal disorders, disorders involving the lesion of posterior columns of the spinal cord and highly specific changes according to the data of MRI and magnetic resonanse spectroscopy of the brain and spinal cord. This disease is one of nuclear inherited mitochondrial encephalomyopathies, caused by mutations in the DARS2 gene and characterized by mitochondrial aspartyl-tRNA-synthetase deficiency. This article presents the record of the disease description, its genetic basis, clinical features and diagnostic criteria. The article describes two clinical cases of the disease in 9-year and 17-year old girls.
Highlights
Clinical Cases of Leukoencephalopathy with Predominant Lesion of the Brain Stem, Spinal Cord and High Blood Lactate in the MR Spectroscopy (Mitochondrial Aspartyl-tRNASynthetase Deficiency)
Leukoencephalopathy with predominant lesion of the brain stem, spinal cord and high blood lactate in the MR spectroscopy is a hereditary disease characterized by slowly progressing cerebellar, pyramidal disorders, disorders involving the lesion of posterior columns of the spinal cord and highly specific changes according to the data of MRI and magnetic resonanse spectroscopy of the brain and spinal cord
Повышение содержания лактата при МР-спектроскопии в крови и ликворе в сочетании с атаксией и изменениями на магнитно-резонансной томографии (МРТ) характерно также для других митохондриальных заболеваний, но вовлечение канатиков спинного мозга специфично только для LBSL
Summary
Clinical Cases of Leukoencephalopathy with Predominant Lesion of the Brain Stem, Spinal Cord and High Blood Lactate in the MR Spectroscopy (Mitochondrial Aspartyl-tRNASynthetase Deficiency). По данным МРТ у пациентки имеет место картина поражения белого вещества головного и спинного мозга в виде гиперинтенсивного сигнала в режимах T2 и FLAIR и гипоинтенсивного — в режиме T1. В возрасте 10 лет при проведении МРТ головного мозга по месту жительства у пациентки обнаружены изменения белого вещества головного мозга, ошибочно расцененные как лейкодистрофия, что в дальнейшем не подтвердилось.
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