RESUMO
Limb-girdle muscular weakness and wasting could be caused by different diseases (inflammatory and hereditary myopathies, muscular dystrophies and neurogenic atrophies). Among these, Limb-Girdle Muscular Dystrophy (LGMD) is an heterogeneous group of pathologies that have progressive proximal limbs and girdle weakness, with some dystrophic features by the muscle biopsy. We studied a case of LGMD in an adult man with a typical histological and histochemical profile, associated to a mitochondrial deficit characterized by presence of ragged-red fibers, a histochemical Cytochrome Oxidase deficiency and abnormal mitochondria by ultrastructure.
Assuntos
Miopatias Mitocondriais/complicações , Distrofias Musculares/complicações , Adulto , Deficiência de Citocromo-c Oxidase , Humanos , Masculino , Miopatias Mitocondriais/patologia , Distrofias Musculares/patologiaRESUMO
A 21-year-old female patient with psychotic symptoms developed hyperthermia, muscular rigidity and hypertension after administration of haloperidol. A muscle biopsy showed some atrophic and necrotic fibers, and a great number of fibers with central cores in the oxidative enzyme preparations. A related syndrome, Malignant Hyperthermia (MH), is sometimes associated with central core disease. The present case shows an association of a hyperthermic syndrome related to haloperidol with central core disease.
Assuntos
Haloperidol/efeitos adversos , Hipertermia Maligna/etiologia , Miopatias da Nemalina/complicações , Síndrome Maligna Neuroléptica/etiologia , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Hipertermia Maligna/diagnóstico , Músculos/patologia , Miopatias da Nemalina/patologia , Síndrome Maligna Neuroléptica/diagnóstico , Transtornos Psicóticos/tratamento farmacológicoRESUMO
Three members of a family with a hereditary neuropathy were studied. Light, electron microscopy and teasing of isolated fibres were performed. The findings confirmed the clinical and electrophysiological hypothesis of hypertrophic form of Charcot-Marie-Tooth disease. Hypertrophy of Schwann cells with the formation of onion bulb figures as the most evident ultrastructural feature, besides demyelination, remyelination and mild axonal degeneration. Recent data about the genetic transmission and pathogenesis of the hereditary motor and sensory neuropathies (HMSN) are discussed.