title: Maroteaux-Lamy syndrome (mucopolysaccharidosis VI) presenting as familial myelopathy.
abstract: A 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.
authors.affiliation: Department of Neurology, Postgraduate Institute of Medical Education & Research, Chandigarh, India. modim72@yahoo.com
authors.forename: Manish
authors.initials: M
authors.lastname: Modi
authors.forename: Veenu
authors.initials: V
authors.lastname: Singla
authors.forename: Niranjan
authors.initials: N
authors.lastname: Khandelwal
authors.forename: S
authors.initials: S
authors.lastname: Prabhakar
authors.forename: Dhananjay
authors.initials: D
authors.lastname: Duberkar
mesh_terms: D002574:Cervical Vertebrae / Q000000981:diagnostic imaging / Q000473:pathology; D003937:Diagnosis, Differential; D004388:Dura Mater / Q000000981:diagnostic imaging / Q000473:pathology; D006025:Glycosaminoglycans / Q000378:metabolism; D006801:Humans; D006984:Hypertrophy; D017843:Ligamentum Flavum / Q000000981:diagnostic imaging / Q000473:pathology; D017846:Longitudinal Ligaments / Q000000981:diagnostic imaging / Q000473:pathology; D008297:Male; D009087:Mucopolysaccharidosis VI / Q000150:complications* / Q000175:diagnosis* / Q000378:metabolism; D011859:Radiography; D013117:Spinal Cord Compression / Q000175:diagnosis* / Q000209:etiology* / Q000473:pathology; D020760:Spinal Cord Ischemia / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D013130:Spinal Stenosis / Q000175:diagnosis / Q000209:etiology / Q000473:pathology; D013131:Spine / Q000000981:diagnostic imaging / Q000473:pathology*; D055815:Young Adult
chemical_list: D006025:Glycosaminoglycans