• Int. J. Neurosci. · Jun 2011

    Case Reports

    Maroteaux-Lamy syndrome (mucopolysaccharidosis VI) presenting as familial myelopathy.

    • Manish Modi, Veenu Singla, Niranjan Khandelwal, S Prabhakar, and Dhananjay Duberkar.
    • Department of Neurology, Postgraduate Institute of Medical Education & Research, Chandigarh, India. modim72@yahoo.com
    • Int. J. Neurosci. 2011 Jun 1; 121 (6): 337-40.

    AbstractA 24-year-old male presented with features of progressively worsening spastic quadriparesis of 5 years' duration with similar milder features in the younger brother. His neuroradiological investigations revealed diffuse thickening of posterior longitudinal ligament, ligamentum flavum, and duramater in the cervical spine causing severe canal stenosis with secondary ischemic cord changes. As both brothers had dysmorphic facial features, further work-up suggested the diagnosis of a rare familial form of myelopathy due to mucopolysaccharidosis VI.Copyright © 2011 Informa Healthcare USA, Inc.

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