RESUMO
We describe a patient with facioscapulohumeral muscular dystrophy (FSHD) associated with Möbius syndrome and congenital ophthalmoplegia. This 7-year-old girl had profound limitation of extraocular movements since birth, congenital facial diplegia, neonatal hypotonia, and progressive limb-girdle weakness. FSHD genetic testing revealed a pathogenic haplotype with a D4Z4 repeat of 30 kb. The father carries the same allele, although is minimally affected. This unusual case expands the genotypic-phenotypic spectrum of FSHD.
Assuntos
Síndrome de Möbius/diagnóstico , Síndrome de Möbius/genética , Distrofia Muscular Facioescapuloumeral/diagnóstico , Distrofia Muscular Facioescapuloumeral/genética , Alelos , Southern Blotting , Criança , Diagnóstico Diferencial , Feminino , Haplótipos , Humanos , Atrofia Muscular/diagnóstico , Atrofia Muscular/genética , Oftalmoplegia/diagnóstico , Oftalmoplegia/genética , LinhagemRESUMO
The Western blot technique is currently the standard detection method for suspected limb girdle muscular dystrophy (LGMD) 2A (calpainopathy). This is the first report in the English literature of the successful application of immunohistochemical techniques to support a diagnosis of LGMD 2A. This approach is straightforward and appears to be reasonably specific. We propose that immunohistochemical methods should be re-evaluated for the screening of undiagnosed patients with suspected LGMD 2A.
Assuntos
Calpaína/metabolismo , Imuno-Histoquímica , Proteínas Musculares/metabolismo , Distrofia Muscular do Cíngulo dos Membros/diagnóstico , Adolescente , Western Blotting , Criança , Humanos , Masculino , Distrofia Muscular do Cíngulo dos Membros/genética , Distrofia Muscular do Cíngulo dos Membros/fisiopatologia , Reação em Cadeia da Polimerase , Polimorfismo Conformacional de Fita SimplesRESUMO
Vanishing white matter disease is a chronically progressive leukodystrophy with periods of acute deterioration after head trauma and febrile illness. This report describes a child with genetically and clinically confirmed vanishing white matter disease exhibiting frequent episodes of right-sided hemiplegia, aphasia, and headache resolving fully within hours to days. This report describes a case of this condition presenting with episodes of hemiparesis with full discovery to baseline. Some possible mechanisms explaining this unusual presentation are provided.