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Updated: Oct 10, 2026
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
MRI of disseminated developmental dysmyelination in Fukuyama type of CMD
T Kato1, M Funahashi, A Matsui
1Tokyo Children's Rehabilitation Hospital, Tokyo, Japan.
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.
Insights
White matter lesions in Fukuyama type of congenital muscular dystrophy (FCMD) are due to dysmyelination, not delayed myelination. Advanced MRI techniques reveal disseminated lesions masked by brain development.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Fukuyama type of congenital muscular dystrophy (FCMD) presents with white matter lesions.
- The exact pathologic origin of these lesions (delayed myelination vs. dysmyelination) remains debated.
Purpose of the Study:
- To investigate the pathologic distribution of white matter lesions in FCMD.
- To differentiate between delayed myelination and dysmyelination as the cause of FCMD white matter lesions.
Main Methods:
- Utilized heavily T(2)-weighted magnetic resonance imaging (MRI) with fluid-attenuated inversion recovery (FLAIR) pulse sequences.
- Compared FLAIR sequence sensitivity to T(2)- and T(1)-weighted spin echo sequences for lesion detection.
Main Results:
- FLAIR imaging demonstrated significantly higher sensitivity for detecting white matter lesions compared to T(2) and T(1) sequences.
- Lesions were disseminated and not correlated with cortical disarrangement, inconsistent with delayed myelination.
- Findings support dysmyelination as the pathologic origin, with lesions masked by brain development.
Conclusions:
- White matter lesions in FCMD are characterized by disseminated developmental dysmyelination.
- Advanced MRI, particularly FLAIR, is crucial for accurate identification, distinguishing it from delayed myelination.
