MR imaging and 1H-MR spectroscopy of a case of van der Knaap disease

Brain & Development
Hideyuki MoritaSeiichi Tsujino

Abstract

Van der Knaap disease, characterized by megalencephalic leukoencephalopathy and subcortical cysts, is a rare and recently defined condition. We discuss here the MR image (MRI) and MR spectroscopy (MRS) features in a 30-year-old man with S93L homozygous mutation in the MLC1 gene. MRI demonstrated high intensity diffuse white matter with T2-weighted image and subcortical cysts in the parietal and temporal lobes and MRS showed mildly reduced N-acetylaspartate (NAA) in areas of severe T2 elongation with a long TE sequence. A peak of lactate/lipid was indicated at a chemical shift of 1.3 ppm with a short TE sequence. The peak for myo-inositol was normal in areas of severe and mild T2 elongation with short TE MRS. These findings suggest that demyelination progresses slowly in van der Knaap disease and that MRS with long and short TE is useful for the evaluation of neural metabolization associated with van der Knaap disease.

References

Jan 1, 1993·Developmental Neuroscience·A BrandD Leibfritz
Sep 15, 2000·Acta Neurologica Scandinavica·S MizunoH Hoshi
Jul 20, 2002·Journal of Spinal Disorders & Techniques·Yuka NonomuraKei Miyamoto
Mar 15, 2003·Journal of Neurology·Knut BrockmannFolker Hanefeld

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Citations

Dec 6, 2014·Neuroimaging Clinics of North America·Maria Gabriela LongoLeonardo Modesti Vedolin
Mar 26, 2011·Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging·Banu CakirAsli Koktener

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