ABSTRACT
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.
Subject(s)
Cerebral Cortex/abnormalities , Diffusion Magnetic Resonance Imaging , Epilepsy/congenital , Image Enhancement , Image Processing, Computer-Assisted , Intellectual Disability/etiology , Magnetic Resonance Imaging , Neural Pathways/abnormalities , Adult , Agenesis of Corpus Callosum , Cerebral Cortex/pathology , Choristoma/diagnosis , Choristoma/pathology , Corpus Callosum/pathology , Ependyma/abnormalities , Ependyma/pathology , Epilepsy/diagnosis , Frontal Lobe/abnormalities , Frontal Lobe/pathology , Humans , Intellectual Disability/diagnosis , Male , Nerve Fibers/pathology , Neural Pathways/pathology , Pyramidal Tracts/abnormalities , Pyramidal Tracts/pathology , Septum Pellucidum/abnormalitiesABSTRACT
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.
