Ameloblastoma in a Three-Year-Old Child with Hurler Syndrome (Mucopolysaccharidosis Type I)

Abstract

Mucopolysaccharidoses (MPS) are a family of genetic diseases associated with a deficiency of alpha-L iduronidase, which causes a lack of catabolism of glycosaminoglycans (GAGs). Therefore, the accumulation of GAGs determines a wide spectrum of symptoms, typically found in a few syndromes like Hurler syndrome (HS). Among other specific manifestations, craniofacial abnormalities are crucial for the characterization of this syndrome. Ameloblastoma is a rare, benign, slow-growing, odontogenic tumor usually located in the mandible. Clear risk factors for the development of ameloblastoma remain unknown, but black patients have a fivefold increased risk. Clinically, it is characterized by a painless, variable-sized jaw swelling. Although classified as a benign tumor, ameloblastoma often has a severe clinical outcome. The most common type of ameloblastoma is the solid/multicystic/conventional one. A computed tomography scan (CT) with and without contrast is the gold standard for evaluating this kind of neoplasia. Conservative or radical surgery is the mainstay of treatment. In this case report, we described an unusual clinical assessment of conventional ameloblastoma interesting the posterior left mandible of a 35-month-old child affected by HS. This case represented a suggestive challenge both from a diagnostic and a therapeutic point of view. The patient was disease-free at 2 years’ follow-up.

Keywords

• ameloblastoma
• mucopolysaccharidoses
• Hurler syndrome
• odontogenic tumor
• odontogenic lesion
• immunohistochemistry