RESUMO
Patients with malformations of cortical development and epilepsy may have a variety of abnormal brain findings, including abnormal gyral patterns, cortical thickening, decreased volume of white matter, and increased diffusion of white matter. The status of individual white matter fiber tracts, however, is unknown. We present a case of bilateral frontal schizencephaly and subcortical heterotopia and illustrate alterations of white matter fascicles by combined structural and functional diffusion tensor imaging at 3 T.
Assuntos
Córtex Cerebral/anormalidades , Imagem de Difusão por Ressonância Magnética , Epilepsia/congênito , Aumento da Imagem , Processamento de Imagem Assistida por Computador , Deficiência Intelectual/etiologia , Imageamento por Ressonância Magnética , Vias Neurais/anormalidades , Adulto , Agenesia do Corpo Caloso , Córtex Cerebral/patologia , Coristoma/diagnóstico , Coristoma/patologia , Corpo Caloso/patologia , Epêndima/anormalidades , Epêndima/patologia , Epilepsia/diagnóstico , Lobo Frontal/anormalidades , Lobo Frontal/patologia , Humanos , Deficiência Intelectual/diagnóstico , Masculino , Fibras Nervosas/patologia , Vias Neurais/patologia , Tratos Piramidais/anormalidades , Tratos Piramidais/patologia , Septo Pelúcido/anormalidadesRESUMO
A 25-year-old Chinese man presented with a 2-year history of recurrent coma. His plasma ammonia level was extremely elevated, with raised citrulline level and absence of argininosuccinic acid. Adult-onset citrullinaemia, a condition rarely reported outside the Japanese population, was diagnosed. Serial magnetic resonance (MR) imaging, including diffusion-weighted (DW) studies, showed initial involvement of the insula cortex and cingulate gyrus, changing to a pattern of multiple small lesions in the depths of the cortical sulci. This changing pattern of lesions over time on DW MR imaging has not previously been described in adult-onset citrullinaemia.
