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

doi:10.1016/j.oooo.2013.04.021

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

Volume 116, Issue 2, August 2013, Pages e141-e148

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https://doi.org/10.1016/j.oooo.2013.04.021 Get rights and content

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.

Section snippets

Case report

This study was approved by the Ethics Committee on Human Research of the Institute of Health Sciences, Federal University of Para under Protocol No. 193/2007. Patients were invited to participate in the study, and those wishing to do so signed informed consent forms.

Two female siblings (patients 1 and 2) who were 17 and 15 years of age, and had MPS VI consented to participate. Patient age, gender, and age at the beginning of enzyme treatment were recorded. An oral examination was conducted by

Discussion

The goal of the study was to describe the clinical and imaging findings of two 15- and 17-year-old female patients with MPS VI.

During the study, both individuals received treatment with ERT, which is similar to most previous studies.6, 7, 8 The clinical and radiographic findings did not show great variation between the two patients. Some of the clinical features were not represented in the radiographic images, which were most likely due to the numerous phenotypic manifestations of MPS VI—this

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: J.J.V.P. and L.C.S contributed equally to this work.

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Oral and maxillofacial radiologyOnline only articleDentomaxillofacial manifestations of mucopolysaccharidosis VI: clinical and imaging findings from two cases, with an emphasis on the temporomandibular joint

Objectives

Study design

Results

Conclusions

Section snippets

Case report

Discussion

Oral Surg Oral Med Oral Pathol

Int J Oral Maxillofac Surg

Oral Surg Oral Med Oral Pathol Oral Radiol Endod

Oral Surg Oral Med Oral Pathol Oral Radiol Endod

Oral Surg Oral Med Oral Pathol Oral Radiol Endod

Oral Surg Oral Med Oral Pathol Oral Radiol Endod

The mucopolysaccharidoses

Histochemical studies of glycosaminoglycans in developing periodontal ligaments of ICR mice

Anat Rec

Syndecan-1 expression during the formation of junctional epithelium

J Periodontal

Manifestações radiológicas da mucopolissacaridose tipo VI

Radiol Bras

Oral and maxillofacial radiology
Online only article
Dentomaxillofacial manifestations of mucopolysaccharidosis VI: clinical and imaging findings from two cases, with an emphasis on the temporomandibular joint