RESUMO
Madelung's disease (benign symmetric lipomatosis) is a rare syndrome in which there are multiple lipomas around the neck, upper limbs and trunk in the context of chronic alcoholism. We report on a female patient with lipomas and slightly progressive myoclonus, neuropathy, myopathy, ataxia and respiratory systemic involvement (labelled in the past as Madelung's disease). Multisystem involvement and family history of lipomas led to the development of mitochondrial genetic tests, which can assess two concurrent mitochondrial mutations: the m.8344A>G mutation in MT-TK gene, related MERRF (myoclonic epilepsy with ragged-red fibre) phenotype and m.14484T>C mutation in the MT-ND6 gene responsible for Leber hereditary optic neuropathy phenotype.
Assuntos
Lipoma/patologia , Lipomatose Simétrica Múltipla/patologia , Mitocôndrias/genética , Doenças Mitocondriais/diagnóstico , Mioclonia/diagnóstico , Pescoço/patologia , Ataxia/diagnóstico , Feminino , Marcha/fisiologia , Humanos , Lipomatose Simétrica Múltipla/diagnóstico , Lipomatose Simétrica Múltipla/genética , Síndrome MERRF/genética , Pessoa de Meia-Idade , Doenças Mitocondriais/complicações , Doenças Mitocondriais/genética , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/etiologia , Mutação , Mioclonia/tratamento farmacológico , Mioclonia/etiologia , NADH Desidrogenase/genética , Avaliação de Resultados em Cuidados de Saúde , Fenótipo , Doenças RarasRESUMO
Bilateral obturator nerve injury during pelvic surgery is an infrequent cause of lower limb paraparesis. We report the case of a 45-year-old woman with a large uterine leiomyoma who underwent simple total hysterectomy and bilateral salpingectomy. At 24 h after the surgery, the patient noticed loss of muscle strength when adducting both legs. She had no problem with other movements and no sensory or sphincter abnormalities. Neurological examination confirmed that there was loss of strength only in the adductor muscles, with preserved sensory function and reflexes, suggesting bilateral obturator nerve involvement. Pelvic MRI showed a small postsurgical haematoma in the Douglas recess, but far from the obturator nerves. 2 weeks later, electromyography showed positive sharp waves and low motor unit recruitment in the adductor magnus muscles, confirming acute, bilateral obturator nerve neuropathy. The few cases of bilateral obturator neuropathy that have been reported were mostly related to abdominopelvic interventions.