NEUROIMAGING STUDY IN CONGENITAL MUSCULAR DYSTROPHY, WITH SPECIAL REFERENCE TO BRAIN SURFACE IMAGING AND WHITE MATTER ABNORMALITIES

Objectives: To confirm the brain MR imaging characteristics with special reference to the brain surface images and the white matter abnormalities, in the various types of congenital muscular dystrophies (CMDs).

Methods: The brain MR images including surface anatomy scans (SAS) were studied in 15 children with biopsy-proved CMDs. They were 8 cases with Fukuyama type CMD (FCMD; typical 6 and atypical 2), 2 cases with Muscle-eye-brain disease (MEB), 4 cases with merosin positive (M+) CMD and 1 case with merosin negative (M-) CMD. Genetic analysis confirmed the diagnosis in 2 cases with atypical FCMD and in 1 case with MEB.

Results: SAS depicted abnormal gyri in 7 of 8 cases in FCMD, 2 of 2 cases in MEB, 1 of 4 cases in M(+)CMD and 0 of 1 case in M(-)CMD. Every case having cortical dysplasia showed bilateral distinctly wide superior frontal gyri in SAS, which was thought to be a characteristic finding in the CMD with abnormal gyrus formations. White matter abnormalities were observed in 6 of 8 cases in FCMD, 1 of 2 cases in MEB, 2 of 4 cases in M (+)CMD and 1 of 1 case in M(-)CMD. One case with genetically confirmed FCMD showed normal intelligence and no abnormal gyrus formations. One case with M (+) CMD showed the same SAS findings as typical FCMD and diffuse white matter abnormalities, having no FCMD founder mutations.

Conclusion: Our data suggests that the neuroimaging findings in CMDs are not always disease specific. Further biochemical or genetic investigations should be required in cases showing atypical neuroimaging findings. Bilateral distinctly wide superior frontal gyri observed in SAS might be a characteristic finding of CMD with cortical dysplasia.