RESUMEN
Central nervous system (CNS) infection by Histoplasma capsulatum is a rare disease in immunocompromised individuals in endemic areas. About one quarter of cases result from hematogenous dissemination. A 23-year-old upholsterer with chronic occipital headache had developed intracranial hypertension and dizziness, incoordination with ataxic gait, and acute confusion 5 months prior to admission. Laboratory examinations and chest roentgenogram were normal. Postcontrast T1-weighted MRI of the brain revealed a multiple ring-enhancing cerebellar, brain stem and parietal lobe lesions, and meningeal contrast enhancement. Cerebrospinal fluid culture was positive for H. capsulatum species complex, which was confirmed by phylogenetic analysis. Thirteen years after the diagnosis and treatment, there was no H. capsulatum recurrence; sequels related to complications due to the ventriculoperitoneal shunt. This case shows a primary neurological presentation of cerebral histoplasmosis, without meningitis or disseminated disease in nonimmune-compromised patient. The authors propose a categorization of the diagnosis of CNS histoplasmosis. Routine diagnostics of sibling species within the H. capsulatum complex proved to be difficult.
Asunto(s)
Infecciones del Sistema Nervioso Central/microbiología , Histoplasma , Histoplasmosis/diagnóstico , Adulto , Infecciones del Sistema Nervioso Central/patología , Líquido Cefalorraquídeo/microbiología , ADN Espaciador Ribosómico/genética , Genes Fúngicos , Histoplasma/genética , Histoplasma/aislamiento & purificación , Histoplasmosis/patología , Humanos , Masculino , Filogenia , Adulto JovenRESUMEN
We described a patient with clinical findings from Kennedy's disease and positive genetic study for Kugelberg-Welander's disease. A 24 years old man with negative family history presented with progressive spinal and bulbar muscular atrophy and gynecomastia at the age of 14. He was clinically diagnosed as having Kennedy's disease. However, a genetic study performed later was found to be negative for this disease and was positive for Kugelberg-Welander's disease, with deletion of the exons 7 and 8 in the "survival of motor neuron" gene.
Asunto(s)
Proteína de Unión a Elemento de Respuesta al AMP Cíclico/genética , Proteínas del Tejido Nervioso/genética , Fenotipo , Proteínas de Unión al ARN/genética , Atrofias Musculares Espinales de la Infancia/diagnóstico , Adulto , Diagnóstico Diferencial , Exones/genética , Eliminación de Gen , Humanos , Masculino , Atrofia Muscular Espinal/diagnóstico , Proteínas del Complejo SMN , Atrofias Musculares Espinales de la Infancia/genéticaRESUMEN
Descrevemos um paciente com achados clínicos de doença de Kennedy e estudo genético positivo para doença de Kugelberg-Welander. Homem, 24 anos e história familiar negativa, iniciou aos 14 anos com atrofia muscular espinhal de caráter progressivo com ginecomastia. Obteve diagnóstico clínico de doença de Kennedy, entretanto o estudo genético foi negativo para esta doença e positivo para doença de Kugelberg-Welander, com deleções dos exons 7 e 8 e do gene do survival of motor neuron.
Asunto(s)
Adulto , Humanos , Masculino , Proteína de Unión a Elemento de Respuesta al AMP Cíclico/genética , Proteínas del Tejido Nervioso/genética , Fenotipo , Proteínas de Unión al ARN/genética , Atrofias Musculares Espinales de la Infancia/diagnóstico , Diagnóstico Diferencial , Exones/genética , Eliminación de Gen , Atrofia Muscular Espinal/diagnóstico , Atrofias Musculares Espinales de la Infancia/genéticaRESUMEN
The association between the use of statins and neuromuscular disease is currently being intensely discussed. We relate a 63 years old man with possible case of statin-induced neuropathy in a patient with dislipidemia in use of simvastatina at high doses. The electrophysiologic studies disclosed findings compatible with mononeuropathy multiplex, suggested by clinical prescutation of asymmetrical numbness and weakness. More common causes of mononeuropathy multiplex were excluded and the patient improved after the discontinuation of the drug.
Asunto(s)
Inhibidores de Hidroximetilglutaril-CoA Reductasas/efectos adversos , Mononeuropatías/inducido químicamente , Simvastatina/efectos adversos , Humanos , Masculino , Persona de Mediana Edad , Mononeuropatías/diagnósticoRESUMEN
Polineuropatia induzida por estatina é assunto vigente na literatura médica. Relatamos um possível caso de mononeuropatia múltipla induzida pelo uso de sinvastatina em um homem de 63 anos, em uso de sinvastatina. Após o diagnóstico de dislipidemia, iniciou fraqueza e parestesia assimétrica em membros. O estudo eletromiográfico mostrou alterações compatíveis com mononeuropatia múltipla. As causas mais comuns de mononeuropatia múltipla foram descartadas com a realização de exames complementares pertinentes. O paciente melhorou com a descontinuação da sinvastatina.