Hurler Syndrome: Orofacial Clinical Findings

Cristina Rodrigues Barros; José Ferrão; Maria do Céu Machado; Ana Fernandes; Francisco Proença

doi:10.7759/cureus.33313

Hurler Syndrome: Orofacial Clinical Findings

Cureus. 2023 Jan 3;15(1):e33313. doi: 10.7759/cureus.33313. eCollection 2023 Jan.

Authors

Cristina Rodrigues Barros¹, José Ferrão¹, Maria do Céu Machado¹, Ana Fernandes², Francisco Proença¹

Affiliations

¹ Stomatology Department, Centro Hospitalar Universitário de Lisboa Central, Lisbon, PRT.
² Pediatric Stomatology Department, Centro Hospitalar Universitário de Lisboa Central, Lisbon, PRT.

Abstract

Hurler syndrome (HS) belongs to the category of mucopolysaccharidosis (MPS), a spectrum of rare genetic disorders of the mucopolysaccharides metabolism. This syndrome is due to a defect in α-iduronidase, an enzyme responsible for the degradation of the glycosaminoglycans (GAGs) heparin and dermatan sulfate. Intra and extracellular accumulation of these non-metabolized substances may lead to multisystemic dysfunction, with severe stomatognathic involvement that may often need treatment. The aim of this article is to present the heterogeneity of orofacial and radiographic findings observed in two patients with HS with long-term follow-up, who were referred to our Stomatology department.

Keywords: hurler syndrome; metabolic disorder; mucopolysaccharidosis; oral & maxillofacial pathology; pediatrics.

Publication types

Case Reports