MRI of disseminated developmental dysmyelination in fukuyama type of CMD

Abstract

Whether the pathologic origin of white matter lesions in Fukuyama type of congenital muscular dystrophy (FCMD) is delayed myelination or dysmyelination is a controversial issue. This study investigated pathologic distribution in white matter with heavily T 2-weighted images using fluid-attenuated inversion recovery (FLAIR) pulse sequence. For detection of abnormal white matter lesions, FLAIR images were approximately twice as sensitive as T 2-weighted images and five times as sensitive as T 1-weighted images of spin echo sequence. The distribution of the white matter lesions was disseminated and not correlated with cortical disarrangement. The distribution was not consistent with delayed myelination. These findings support the evidence found using in vitro proton-NMR spectroscopy that the pathologic origin of white matter lesions is dysmyelination. When conventional magnetic resonance imaging is used, masked white matter lesions are easy to misidentify as delayed myelination instead of disseminated developmental dysmyelination. The lesions in the white matter of FCMD are masked because of brain development.