RESUMO
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.
Assuntos
COVID-19 , Esclerose Múltipla , Humanos , COVID-19/complicações , COVID-19/diagnóstico , Feminino , Esclerose Múltipla/complicações , Esclerose Múltipla/tratamento farmacológico , Esclerose Múltipla/diagnóstico , SARS-CoV-2 , Encefalopatias/etiologia , Encefalopatias/virologia , Encefalopatias/diagnóstico , Diagnóstico Diferencial , AdultoRESUMO
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.
Assuntos
Oxirredutases do Álcool , Encefalopatias Metabólicas Congênitas , Adolescente , Oxirredutases do Álcool/genética , Encefalopatias Metabólicas Congênitas/diagnóstico por imagem , Encefalopatias Metabólicas Congênitas/genética , Feminino , Humanos , Imageamento por Ressonância Magnética , MutaçãoRESUMO
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.