The oral manifestations of Mucopolysaccharidosis: Case repor
Mucopolysaccharidosis (MPS) is an inherited metabolic disorder characterized by disturbances in the degradation of glycosaminoglycans due to an enzyme deficiency. The accumulation and deposition of glycosaminoglycans lead to a progressive, multi-organ disorder that can result in death in the second decade of life.

Nevertheless, there are patients with milder forms who have a relatively normal life expectancy. Patients with MPS may present with a wide range of characteristic craniofacial malformations.

A 16-year-old female patient was referred for a radiology consultation for evaluation of unerupted teeth and malocclusion. The cone-beam computed tomography (CBCT) scan revealed multiple permanent teeth that were impacted and ankylosed. There was no evidence of other craniofacial malformations. Family history revealed that 2 of the patient's siblings, including a twin, had similar findings. The patient's mother reported that as a child, she had several deciduous teeth extracted to aid with the eruption of the permanent teeth.

The CBCT scan of one of the siblings revealed that multiple permanent and deciduous teeth were ankylosed. The radiologic findings of our patient did not correspond with the dental and chronologic age, which prompted a thorough exploration of the clinical and family history. It was revealed through family history that the patient had an underlying condition of MPS.

MPS and many other conditions can be distinguished by oral findings. It is thought to be appropriate to medically investigate MPS in patients presenting with multiple impacted teeth, which include kissing molars or rosette formation because these findings have been linked. Understanding these characteristic oral manifestations along with appropriate diagnostic workup can help clinicians arrive at a definitive diagnosis and help with early treatment intervention and prevention.

It has been mentioned in the literature that receiving enzyme replacement therapy at an early age may lessen craniofacial malformations.

Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology
Source: https://doi.org/10.1016/j.oooo.2021.04.046
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