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Click 3-year-old girl with merosin-deficient congenital muscular dystrophy (MDCMD). Axial T2W - diffuse and symmetrical abnormal T2 prolongation in cerebral white matter, without the involvement of corpus callosum; internal capsule; brain stem and cerebellum or other structural abnormalities.

Click 3-year-old girl with merosin-deficient congenital muscular dystrophy (MDCMD). Axial T1W - diffuse and symmetrical abnormal T1 hypointensities in cerebral white matter, without the involvement of corpus callosum; internal capsule; brain stem and cerebellum or other structural abnormalities.

Click 3-year-old girl with merosin-deficient congenital muscular dystrophy (MDCMD). Sagittal T1W - diffuse and symmetrical abnormal T1 hypointensities in cerebral white matter, without the involvement of corpus callosum; internal capsule; brain stem and cerebellum or other structural abnormalities. Corpus callosum is intact.

Click 3-year-old girl with merosin-deficient congenital muscular dystrophy (MDCMD). Coronal FLAIR - diffuse and symmetrical abnormal T2 prolongation in cerebral white matter, without the involvement of corpus callosum; internal capsule; brain stem and cerebellum or other structural abnormalities.

Click 3-year-old girl with merosin-deficient congenital muscular dystrophy (MDCMD). Diffusion weighted imaging (DWI) - No restricted diffusion.

Click 3-year-old girl with merosin-deficient congenital muscular dystrophy (MDCMD). MR spectroscopy (MRS) was performed at TE 288.0. White matter metabolites, including N-acetyl aspartate (NAA), choline (Cho) and creatine (Cr) were reduced with increased Cho/Cr ratio.

Click 3-year-old girl with merosin-deficient congenital muscular dystrophy (MDCMD). Diffusion tensor imaging (DTI, raw images) - reduced Fractional Anisotrophy (FA) in affected white matter (FA<0.18).

Click 3-year-old girl with merosin-deficient congenital muscular dystrophy (MDCMD). Diffusion tensor imaging (DTI, processed images) - reduced Fractional Anisotrophy (FA) in affected white matter (FA<0.18).