Analysis of craniofacial character of glucose transporter type I deficiency syndrome

Abstract

Patients with congenital craniofacial anomalies often require orthodontic treatment to correct malocclusion. Numerous case reports about craniofacial anomalies have been published, but for many syndromic diseases the pathology of malocclusion and/or solutions for it remain elusive. In this study, we investigated craniofacial features as well as orthodontic treatment outcomes of patients with glucose transporter 1 deficiency syndrome (GLUT1-DS), which is an autosomal dominant genetic disease. Cross sectional study was performed using 9 GLUT1-DS patients, aged from 8 to 49 years old. All of the participants underwent intraoral and radiographic examinations. Lateral cephalogram measurement was performed for investigating possible craniofacial features in GLUT1-DS patients. Most of them showed skeletal discrepancy with large overjet. Some patients had a history of trauma to their maxillary incisor(s). In order to correct the patients’ malocclusion, we employed conventional orthodontic appliances and obtained good treatment outcomes. Based on these results, we summarized features associated with the deficiency of GLUT1-DS and also showed the benefit of correcting the malocclusion using conventional orthodontic procedures. Through this report, we showed the craniofacial characteristics and malocclusion of the GLUT1-DS patient which could be treated with conventional orthodontic approach.

Keywords:

• Glucose transporter 1 deficiency syndrome
• Congenital craniofacial defect

Acknowledgement

This work was supported by JSPS KAKENHI Grant Number JP17K11936 and JP18K17255.