Brain MR in Fukuyama congenital muscular dystrophy.

PURPOSE To determine the MR characteristics of brain abnormalities in Fukuyama congenital muscular dystrophy (FCMD).

METHODS We reviewed 30 MR examinations of 21 patients with FCMD to assess cerebral and cerebellar cortical dysplasia, white matter changes, and miscellaneous abnormalities.

RESULTS On MR images, all patients had thick and bumpy cortices with shallow sulci corresponding to polymicrogyria, and 12 patients had pachygyric cortices with smooth surfaces, corresponding to type II lissencephaly. Both types of cortical dysplasia had characteristic distributions: the first type involved the frontal lobe in all 21 patients and also the parietotemporal lobe in 6 patients; the second type involved the temporooccipital lobes. Eighteen patients had prolonged T1 and T2 signal in the white matter, which was indistinct in neonates and seen infrequently in adolescents. In four patients, abnormal vessels were seen within the pachygyric cortices.

CONCLUSION MR studies of the brain show findings consistent with the known characteristics of FCMD. The MR detection of the two types of cerebral cortical dysplasia with characteristic distribution and cerebellar abnormalities is helpful in the differential and early diagnosis of FCMD.