title: Infantile refsum disease with enamel defects: a case report.
abstract: The purpose of this paper was to present the case of a 15-year-old female diagnosed with infantile Refsum disease (IRD) that presented with generalized enamel defects in the primary and permanent dentition. IRD is an inherited autosomal recessive disorder characterized by aberrant peroxisome function. IRD patients present with multiple clinical manifestations, including: retinitis pigmentosa; nystagmus; sensorineural hearing loss; mental and developmental delays; neuromotor defects; and cerebral ataxia. Craniofacial abnormalities reported include: high forehead; hypoplastic supraorbital ridges; epicanthal folds; midface hypoplasia; and large anterior fontanelle. At present, there is only one known report of dental anomaly associated with this syndrome. This represents the first known reported case in the pediatric dental literature.
authors.affiliation: Division of Pediatric Dentistry, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
authors.forename: Dorothy
authors.initials: D
authors.lastname: Tran
authors.forename: William
authors.initials: W
authors.lastname: Greenhill
authors.forename: Stephen
authors.initials: S
authors.lastname: Wilson
mesh_terms: D000293:Adolescent; D003730:Dental Care for Persons with Disabilities; D003743:Dental Enamel / Q000002:abnormalities*; D003744:Dental Enamel Hypoplasia / Q000473:pathology; D005260:Female; D006801:Humans; D010347:Patient Care Planning; D052919:Refsum Disease, Infantile / Q000473:pathology*; D014078:Tooth Eruption / Q000502:physiology; D014094:Tooth, Deciduous / Q000002:abnormalities; D014095:Tooth, Impacted / Q000473:pathology