Dentomaxillofacial manifestations of mucopolysaccharidosis VI: clinical and imaging findings from two cases, with an emphasis on the temporomandibular joint.

OBJECTIVES

Using a clinical survey, panoramic, cone-beam computed tomography (CBCT), and magnetic resonance (MR) imaging, this study was conducted to ascertain primary maxillofacial abnormalities in patients with mucopolysaccharidosis VI (MPS VI).

STUDY

DESIGN

Two patients previously diagnosed with MPS VI underwent clinical and imaging surveys (panoramic radiographs, CBCT, and MR imaging).

RESULTS

Jaw involvement was present in all patients. The most prevalent findings were enlarged marrow spaces, osteopenia, dentigerous cyst-like follicles, effacement of the jaw structures, and osteosclerosis. This is the first study to describe temporomandibular joint (TMJ) involvement for MPS VI.

CONCLUSIONS

CBCT and MR imaging were needed to observe features that were not clear in conventional radiographs. Both patients reported symptoms in the TMJ and demonstrated involvement during their examinations. A multicenter study is necessary to better document maxillofacial involvement in MPS VI.