Assuntos
Encefalomielite Aguda Disseminada/etiologia , Síndrome Pulmonar por Hantavirus/complicações , Mielite Transversa/etiologia , Adolescente , Encéfalo/patologia , Evolução Fatal , Feminino , Orthohantavírus/genética , Síndrome Pulmonar por Hantavirus/líquido cefalorraquidiano , Síndrome Pulmonar por Hantavirus/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Paraplegia/etiologia , RNA Viral/líquido cefalorraquidiano , Trombocitopenia/etiologiaRESUMO
We report two elderly siblings with atypical myopathic weakness due to facioscapulohumeral dystrophy (FSHD). The proband presented with isolated facial diplegia, and her brother developed late onset facial and limb-girdle weakness. Both siblings had a 4q35 deletion with the same residual fragment size (25 kb) confirming FSHD. This report highlights the clinical heterogeneity and intrafamily variability of FSHD.
Assuntos
Músculos Faciais/fisiopatologia , Doenças Musculares/etiologia , Doenças Musculares/fisiopatologia , Distrofia Muscular Facioescapuloumeral/complicações , Distrofia Muscular Facioescapuloumeral/fisiopatologia , Fatores Etários , Idade de Início , Idoso , Cromossomos Humanos Par 4/genética , Análise Mutacional de DNA , Avaliação da Deficiência , Progressão da Doença , Feminino , Deleção de Genes , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Fenótipo , Índice de Gravidade de DoençaRESUMO
A 62-year-old man with progressive proximal weakness underwent extensive evaluation including muscle biopsy without a clear diagnosis being established. A repeat muscle biopsy including Congo red-stained sections revealed infiltration of blood-vessel walls and endomysium with amyloid protein, as well as an unusual pattern of pathologic changes to muscle fibers. From a review of 79 cases of amyloid myopathy reported in the English-language literature, the characteristic features of this disorder are described. Congo red-stained sections of muscle biopsy viewed under fluorescent or polarized optics, and serum or urine protein immunoelectrophoresis, play an important role in the evaluation of myopathy. Amyloid myopathy should be a consideration in adults with progressive neuromuscular weakness of uncertain cause.
Assuntos
Amiloidose/diagnóstico , Músculo Esquelético/patologia , Doenças Musculares/diagnóstico , Amiloidose/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Debilidade Muscular/complicações , Debilidade Muscular/diagnóstico , Músculo Esquelético/química , Doenças Musculares/complicaçõesRESUMO
A non-Jewish patient is described who had adult polyglucosan body disease (APBD) and glycogen branching enzyme (GBE) deficiency without GBE mutation. A heterozygous polymorphism (Val160Ile) was found, and also discovered in 1 of 50 normal individuals. Magnetic resonance imaging demonstrated increased T2 signal in the midbrain, medullary olives, dentate nuclei, cerebellar peduncles, and internal and external capsules, with vermian atrophy. Both muscle and nerve biopsy revealed perivascular inflammatory infiltrates. These findings expand the clinical and genetic spectrum of APBD. Factors other than mutation of the expressed GBE gene may cause enzyme deficiency and varied expression and development of APBD.