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 mucopolysacchari- dosis VI.

KEYWORDS: :

• Ligamentum flavum hypertrophy
• Maroteaux–Lamy syndrome
• mucopolysaccharidosis VI
• myelopathy