RESUMO
We describe the clinical and radiologic changes related to progressive facial hemiatrophy (Parry-Romberg syndrome) occurring during a 20-month period in a child who presented with unilateral neurologic deficits and facial hemiatrophy. CT and MR findings included unilateral focal infarctions in the corpus callosum, diffuse deep and subcortical white matter signal changes, mild cortical thickening, and leptomeningeal enhancement with dense mineral deposition. Angiographic findings were normal. We hypothesize that a noninfectious, unilateral inflammatory process, possibly associated with a chronic vasomotor disturbance and sympathetic nerve chain inflammation, was a major factor in the pathogenesis of this syndrome.
Assuntos
Encefalopatias/patologia , Diagnóstico por Imagem , Hemiatrofia Facial/patologia , Aracnoide-Máter/patologia , Doenças do Sistema Nervoso Autônomo/complicações , Encefalopatias/diagnóstico , Calcinose/diagnóstico , Angiografia Cerebral , Infarto Cerebral/diagnóstico , Pré-Escolar , Corpo Caloso/patologia , Progressão da Doença , Hemiatrofia Facial/diagnóstico , Feminino , Seguimentos , Humanos , Imageamento por Ressonância Magnética , Minerais , Pia-Máter/patologia , Sistema Nervoso Simpático/patologia , Tomografia Computadorizada por Raios X , Sistema Vasomotor/patologiaRESUMO
In our experience, more than half of muscular dystrophy patients show a primary dystrophinopathy. The underlying cause of muscular dystrophy in the vast majority of patients with normal dystrophin is unknown. Recently, a French family with 4 young siblings showing a muscular dystrophy of unknown progression was shown to have a primary deficiency of "adhalin," the 50-kd dystrophin-associated protein. Here we report the screening of the entire adhalin coding sequence in muscle biopsy specimens from 30 muscular dystrophy patients to (1) determine whether adhalin deficiency is restricted to the French population, (2) determine the incidence of adhalin deficiency in muscular dystrophy patients, and (3) characterize the clinical features and mutations in adhalin-deficient patients. We identified a single African-American girl with childhood-onset muscular dystrophy and adhalin gene mutations. We found her to be a compound heterozygote for two different mutations of the same amino acid (Arg98Cys; Arg98His), one of which was previously identified in the French family. Our results suggest that primary adhalin deficiency in patients with muscular dystrophy but normal dystrophin is relatively infrequent, and that adhalin-deficient patients are not restricted to the French population.
Assuntos
Proteínas do Citoesqueleto/deficiência , Distrofina/análise , Glicoproteínas de Membrana/deficiência , Músculos/química , Distrofias Musculares/genética , Adolescente , Sequência de Bases , Proteínas do Citoesqueleto/genética , Feminino , Humanos , Glicoproteínas de Membrana/genética , Dados de Sequência Molecular , Músculos/patologia , Mutação , Reação em Cadeia da Polimerase , Valores de Referência , SarcoglicanasRESUMO
Epidural hematoma due to birth trauma is unusual. The presentation is similar to subdural hematoma in the newborn, but the results of subdural puncture may be normal. The CT scan is diagnostic and early surgical evacuation may be lifesaving.
