RESUMEN
Stiff person syndrome (SPS) is a rare disease affecting the central nervous system which can be autoimmune, paraneoplastic or idiopathic in origin. Its typical classic presentation is characterized by progressive stiffness of the trunk and limbs, associated with spasms. The diagnosis is supported by the existence of continuous and spontaneous muscle activity on electroneuromyogram detection, the presence of serum anti-GAD antibodies, and a response to benzodiazepines. We report the case of a 46-year-old patient with a classic form of autoimmune stiff person syndrome associated with dermatitis herpetiformis.
Asunto(s)
Dermatitis Herpetiforme/diagnóstico , Síndrome de la Persona Rígida/diagnóstico , Autoanticuerpos/inmunología , Dermatitis Herpetiforme/inmunología , Humanos , Masculino , Persona de Mediana Edad , Síndrome de la Persona Rígida/inmunologíaRESUMEN
Neurosyphilis (NS) remains a public health problem. Several recent reports suggest a worldwide increase in the incidence of this condition. Various syndromes can occur in NS, such as syphilitic meningitis, meningovascular syphilis, parenchymatous and gummatous neurosyphilis. Syphilis meningovascular will be the focus of this study. We report 14 new observations of meningovascular syphilis. A review of demographic and clinical features, neuroimaging findings, cerebrospinal fluid changes, treatment and outcome, pathophysiology mechanism of meningovascular syphilis are presented.
RESUMEN
Spinocerebellar ataxia type 7 (SCA7) is a rare autosomal dominant neurodegenerative disease. Its clinical presentation is a progressive cerebellar ataxia associated with cone and retinal dystrophy. The CAG repeat expansion in the ataxin-7 gene (ATXN7) causes spinocerebellar ataxia type 7 - a mutation that results in the degeneration of the brain stem cells, retina and cerebellum. We report in this study the clinical and genetic features of a new Moroccan family of SCA7, from the South of Morocco. We performed the molecular genetic testing to confirm the diagnosis of SCA7. The objective of this study is to report a new Moroccan case of SCA7 and to illustrate the role of the geneticist in the diagnosis, management and development of genetic counseling of SCA7 disease.