2014 Volume 52 Issue 4 Pages 559-564
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe mental retardation,ataxia, speech disorder, seizures, easily provoked laughter, and craniofacial anomalies. The cause of AS is loss of expression of the maternal copy of the UBE3A gene, which is located in the chromosome 15q11−q13 region and maternally expressed by genomic imprinting.We encountered a 1-year-6 month-old boy with AS complicated by severe dental caries in many of his primary teeth. A diagnosis of AS had been established by specific clinical and genetic findings at the Department of Pediatrics of Kyushu University Hospital at the age of 1 year. The patient was referred to the Department of Pediatric Dentistry and Special Needs Dentistry at Kyushu University Hospital for diagnosis and treatment of dental caries. The patient was unable to cooperate for a dental examination in the outpatient clinic due to severe mental retardation associated with AS. To complete comprehensive dental assessments and treatment, intra-oral and dental X-ray examinations, as well as related treatments were performed under general anesthesia. The postoperative course was satisfactory and uncomplicated. Long-term follow-up is important in such cases for early diagnosis and management of the orofacial condition, because mandibular prognathism, enlarged tongue, widely spaced teeth, and enamel hypoplasia have been reported in AS patients.
