Asunto(s)
Sustitución de Aminoácidos/genética , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Fibrosis Quística/genética , Mutación del Sistema de Lectura/genética , Eliminación de Gen , Mutación Missense/genética , Arginina/genética , Femenino , Humanos , Metionina/genéticaRESUMEN
Recently, it has become clear that anti-neutrophil cytoplasmic autoantibody (ANCA) can be detected in patients with idiopathic necrotizing and crescentic glomerulonephritis or necrotizing angitis, and can be used as a serological marker for vasculitic syndrome. Described is a 56-year-old woman who had peripheral neuropathy, intestinal hemorrhage, generalized tonic-clonic convulsions, during the course of a rapidly progressive glomerulonephritis syndrome due to myeloperoxidase (MPO)-ANCA related vasculitis. The cranial MRI showed transient leukoencephalopathy in the parieto-occipital lobes bilaterally. The following MRI revealed multiple cortical and subcortical hemorrhage in the left occipital and right temporal lobe. The neurologic examination showed a slight left hemiparesis and a right homonymous hemianopsia, but, she experienced no subjective symptoms. In the case of MPO-ANCA related vasculitis, there is the possibility of intracranial disorders seen as this case. Thus, MPO-ANCA in related vasculitis should be always considered as a differential diagnosis in cases of transient localized leukoencephalopathy or cortical-subcortical cerebral hemorrhage.