RESUMO
Orthostatic hypotension is a cardinal feature of multiple-system atrophy. The upright posture provokes syncopal episodes that prevent patients from standing and walking for more than brief periods. We implanted a system to restore regulation of blood pressure and enable a patient with multiple-system atrophy to stand and walk after having lost these abilities because of orthostatic hypotension. This system involved epidural electrical stimulation delivered over the thoracic spinal cord with accelerometers that detected changes in body position. (Funded by the Defitech Foundation.).
Assuntos
Terapia por Estimulação Elétrica , Hipotensão Ortostática , Atrofia de Múltiplos Sistemas , Acelerometria , Atrofia , Pressão Sanguínea/fisiologia , Terapia por Estimulação Elétrica/métodos , Eletrodos Implantados , Espaço Epidural , Humanos , Hipotensão Ortostática/diagnóstico , Hipotensão Ortostática/etiologia , Hipotensão Ortostática/terapia , Atrofia de Múltiplos Sistemas/terapia , Postura/fisiologia , Vértebras TorácicasRESUMO
YY1 mutations cause Gabriele-de Vries syndrome, a recently described condition involving cognitive impairment, facial dysmorphism and intrauterine growth restriction. Movement disorders were reported in 5/10 cases of the original series, but no detailed description was provided. Here we present a 21-year-old woman with a mild intellectual deficit, facial dysmorphism and a complex movement disorder including an action tremor, cerebellar ataxia, dystonia, and partial ocular apraxia as the presenting and most striking feature. Whole-exome sequencing revealed a novel heterozygous de novo mutation in YY1 [NM: 003403.4 (YY1): c.907 T > C; p.(Cys303Arg)], classified as pathogenic according to the ACMG guidelines.