3-DIMENSIONAL MR-IMAGING OF BRAIN SURFACE ANOMALIES IN FUKUYAMA TYPE CONGENITAL MUSCULAR-DYSTROPHY

Fukuyama-type congenital muscular dystrophy (FCMD), the second most co mmon childhood muscular dystrophy in Japan, is characterized by the as sociation with severe brain anomalies such as pachygyria and focal int erhemispheric fusion. Conventional imaging techniques such as X-ray CT scan and MRI are ineffective for visualization of these brain surface anomalies. Here we investigated the efficacy of three-dimensional (3- D) reconstruction of brain surface MR images for the detection of brai n anomalies in FCMD patients. 3-D brain surface MR images clearly visu alized anomalies of cerebral gyrus such as pachygyria, as well as foca l interhemispheric fusion. In addition, reconstructed horizontal image s visualized structural derangement such as abnormal protrusion of whi te matter into gray matter. MR image abnormalities were confirmed by a utopsy in 1 patient. These abnormalities were never observed in Duchen ne muscular dystrophy (DMD) patients. Our results indicate the efficac y of the present method for the differential diagnosis between FCMD an d DMD with severe mental retardation, which is essential for the genet ic study to identify the causative gene of FCMD. (C) 1995 John Wiley a nd Sons, Inc.