Fukuyama congenital muscular dystrophy: a neuroradiologic review

J Magn Reson Imaging. 1998 Mar-Apr;8(2):317-26. doi: 10.1002/jmri.1880080211.

Abstract

We reviewed neuroradiologic findings of Fukuyama congenital muscular dystrophy (FCMD) and correlated them with the known neuropathology. All patients showed thick and bumpy cortices with shallow sulci corresponding to polymicrogyria, and approximately half of the patients showed pachygyric cortex with smooth surface corresponding to type II lissencephaly. The two types of cortical dysplasias presented characteristic distributions: the former demonstrated frontal lobe involvement in all and parietotemporal lobe involvement in some, whereas the latter involved the temporo-occipital lobes. Most patients showed prolonged T1 and T2 signal in the white matter, which was indistinct in neonates and infrequently seen in adolescents. Cerebellar polymicrogyria depicted as disorganized cerebellar foliation accompanying cysts were found more than 90% of the patients. In conclusion, brain MRI demonstrates findings consistent with the known neuropathology of FCMD. The detection of the two types of cerebral cortical dysplasia with characteristic distribution and cerebellar abnormalities is helpful in the differential and early diagnosis.

Publication types

  • Review

MeSH terms

  • Brain / abnormalities
  • Brain / pathology*
  • Diagnosis, Differential
  • Humans
  • Japan / epidemiology
  • Magnetic Resonance Imaging*
  • Muscular Dystrophies / congenital*
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / epidemiology
  • Muscular Dystrophies / pathology*