[A case of COVID-associated encephalopathy in a patient with multiple sclerosis]. / Klinicheskii sluchai COVID-assotsiirovannoi entsefalopatii u patsienta s rasseyannym sklerozom.

A case of acute encephalopathy manifested with impaired consciousness, hemichorrhea, speech and cognitive impairment in a female patient with COVID-19 and multiple sclerosis is presented. In the literature, there are isolated reports of such a combination of diseases, and therefore difficulties arise in carrying out differential diagnosis and prescribing therapy. Given the limited knowledge about the long-term consequences of COVID-19, systematic analysis of such cases and follow-up of such patients is necessary.

[L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene]. / Sluchai L-2-gidroksiglutarovoi atsidurii, obuslovlennoi novoi mutatsiei v gene L2HGDH.

The authors present a case-report of 13 year-old girl with L-2-hydroxyglutaric aciduria [MIM#236792], a rare autosomal/recessive metabolic disorder caused by mutations in the L-encoding 2-hydroxyglutarate dehydrogenase (L2HGDH, 14q21.3). Clinical signs of the disease are presented by predominantly neurological symptoms (epilepsy, cerebellar ataxia, cognitive impairment). The distinctive feature is the specific multifocal lesion of the white matter detected on MRI. The characteristic neuroimaging picture and positive results of biochemical and molecular genetic diagnosis were identified.

[Quality of life of patients with primary headaches, strokes and myotonic dystrophy].

Results of the first comparative study using a Russian validated version of the Medical Outcomes Study Short Form-36 (MOS SF-36) are presented. Two hundreds and seventy-four patients with several neurological disorders - primary cephalgias (124 patients), strokes (120) and myotonic dystrophy (30) were examined. A remarkable decrease of quality of life (QOL) in all groups as well as between-group differences on QOL domains (physical, psychological, social and others) were observed. These data might serve as a basis of support programs for patients.