MR imaging of the brain in Fukuyama-type congenital muscular dystrophy.

Abstract

Cerebral malformations in conjunction with congenital muscular dystrophy are unusual. Three such combinations have been described, including Walker-Warburg syndrome [1, 2]; muscle, eye, and brain disease [3]; and Fukuyama-type congenital muscular dystrophy (FCMD) [4] . FCMD occurs with particularly high frequency in Japan, where it is the second most prevalent form of progressive muscular dystrophy. FCMD comprises a particular clinicopathologic syndrome. Clinical signs include mental retardation , progressive muscle weakness, joint contractures, and seizures in 50% of cases . Pachygyria and polymicrogyria are the most consistent neuropathologic findings [5]. CT findings are low-density areas involving the cerebral white matter in almost half of all cases [6] . Delay in myelination has been suspected as the pathogenesis of these low-density white matter areas [7]. Pathologic studies have been inconclusive as to the presence of degenerative cerebral lesions. We present here the MR imaging findings for three typical cases of FCMD.