title: Medical-dental findings and management of a child with infantile Refsum disease: a case report.
abstract: Infantile Refsum disease (IRD) is a peroxisome biogenesis disorder (PBD), and is part of a larger group of diseases called leukodystrophies, which are inherited conditions that damage the white matter of the brain and affect motor movements. Multiple signs and symptoms of IRD begin in infancy and progress through early childhood, including hearing and visual impairment, intellectual and growth impairment, seizures, liver involvement, and orofacial and dental abnormalities. This paper presents a case history of a 12-year-old female patient with IRD who underwent dental rehabilitation in the operating room under general anesthesia and includes a 2-year follow-up. Medical, dental, and management considerations in the care of this child's condition are presented. This paper also discusses the importance of a multidisciplinary approach in the management of children with special needs.
authors.affiliation: Department of Pediatric Dentistry, University of Texas at Houston, School of Dentistry, Houston, Texas, USA. bhavini.s.acharya@uth.tmc.edu
authors.forename: Bhavini S
authors.initials: BS
authors.lastname: Acharya
authors.forename: Priyanshi
authors.initials: P
authors.lastname: Ritwik
authors.forename: Gisela M
authors.initials: GM
authors.lastname: Velasquez
authors.forename: Sanford J
authors.initials: SJ
authors.lastname: Fenton
mesh_terms: D002648:Child; D003442:Crowns; D017742:Dental Care for Chronically Ill; D003730:Dental Care for Persons with Disabilities; D003743:Dental Enamel / Q000002:abnormalities; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D010348:Patient Care Team; D010482:Periapical Abscess / Q000209:etiology; D052919:Refsum Disease, Infantile / Q000150:complications* / Q000628:therapy; D014071:Tooth Abnormalities / Q000209:etiology* / Q000534:rehabilitation; D019217:Tooth Attrition / Q000209:etiology; D014086:Tooth Mobility / Q000209:etiology; D014094:Tooth, Deciduous / Q000002:abnormalities