Asunto(s)
COVID-19 , Discinesias , ChAdOx1 nCoV-19 , Discinesias/etiología , Humanos , SARS-CoV-2 , VacunaciónRESUMEN
Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive disorder characterized by deafness and dystonia. However the phenotypic expression of dystonia has not been systematically defined. We report clinical, neurophysiological, and ophthalmological data on 6 subjects from 3 Australian kindreds, including 2 with novel mutations, together with a systematic review of the literature, in order to define the phenotypic expression of dystonia. Profound hearing impairment in affected males develops by infancy and precedes the development of dystonia, which varies in time of onset from the first to the sixth decades, with a peak in the second and third decades. Dystonia in MTS tends to be focal, segmental, or multifocal in distribution at onset, with a predilection for the upper body, variably involving the head, neck, and upper limbs. The majority of patients have progression or generalization of their dystonia regardless of age of onset. Within our 3 kindreds, we observed relative intrafamilial homogeneity but interfamilial variation. The median time to the development of moderate-severely disabling dystonia in these subjects was 11 years. Associated features included progressive cognitive decline, pyramidal signs, and in 1 patient, gait freezing and postural instability. Optic atrophy and cortical visual impairment were both observed. We report for the first time a female patient who developed multiple disabling neurological complications of MTS. Our findings more clearly define and expand the phenotype of both the dystonia and other neurological features of MTS and have implications for the diagnosis and management of this condition.
Asunto(s)
Trastornos Sordoceguera/genética , Trastornos Sordoceguera/fisiopatología , Distonía/genética , Distonía/fisiopatología , Discapacidad Intelectual/genética , Discapacidad Intelectual/fisiopatología , Atrofia Óptica/genética , Atrofia Óptica/fisiopatología , Adolescente , Adulto , Edad de Inicio , Australia , Niño , Preescolar , Trastornos del Conocimiento/etiología , Trastornos Sordoceguera/psicología , Progresión de la Enfermedad , Distonía/psicología , Potenciales Evocados Somatosensoriales , Potenciales Evocados Visuales , Exones , Femenino , Humanos , Lactante , Discapacidad Intelectual/etiología , Discapacidad Intelectual/psicología , Intrones , Imagen por Resonancia Magnética , Masculino , Proteínas de Transporte de Membrana/genética , Persona de Mediana Edad , Proteínas del Complejo de Importación de Proteínas Precursoras Mitocondriales , Mutación , Pruebas Neuropsicológicas , Atrofia Óptica/psicología , Linaje , Caracteres Sexuales , Adulto JovenRESUMEN
A 21-year-old woman was admitted to hospital with a diagnosis of acute psychotic mania, but developed, over approximately 6 weeks, seizures, delirium, catatonia, movement disorder and autonomic dysfunction. She was found to have antibodies to N-methyl-D-aspartate (NMDA) NR1-NR2 receptors in both serum and cerebrospinal fluid, consistent with anti-NMDA-receptor encephalitis, a severe, potentially lethal but treatment-responsive encephalitis often associated with ovarian tumour. With aggressive immunotherapy and bilateral oophorectomy, she recovered over a period of 14 months from her initial presentation. No ovarian tumour was identified.