Hurler Syndrome: Orofacial Clinical Findings

Area of Science:

• Genetics
• Metabolic Disorders
• Stomatology

Background:

• Hurler syndrome (HS) is a type of mucopolysaccharidosis (MPS), a group of rare genetic metabolic disorders.
• It results from a deficiency in the enzyme α-iduronidase, crucial for breaking down glycosaminoglycans (GAGs) like heparin and dermatan sulfate.
• Accumulation of GAGs leads to multisystemic dysfunction, frequently impacting the stomatognathic system.

Observation:

• This article details the diverse orofacial and radiographic presentations in two Hurler syndrome patients.
• Both patients underwent long-term follow-up at a Stomatology department.
• The observations focus on the heterogeneity of symptoms within the syndrome.

Findings:

• The study observed significant variations in the orofacial and radiographic characteristics of Hurler syndrome.
• These findings underscore the complex and individualized nature of HS manifestations.
• Long-term follow-up revealed the progressive and varied impact on dental and craniofacial structures.

Implications:

• Understanding the heterogeneity of HS findings is crucial for tailored dental and orthodontic treatment planning.
• Early identification and management of stomatognathic involvement can improve patient outcomes.
• This case series contributes to the literature on the dental management of rare metabolic disorders.