Multiple Teeth Impaction in an Adult Patient Affected by Infantile Refsum Disease: A Case Report

Introduction: Infantile Refsum disease (IRD) is considered one of the milder phenotypes within the Zellweger Spectrum Disorders (ZSDs), a group of peroxisomal biogenesis disorders characterized by a generalized impairment of peroxisomal function. Pathognomonic features of IRD are growth retardation, hearing and cognitive impairment, neuromuscular problems, and craniofacial anomalies. Due to the relatively short lifespan, severe dental anomalies have not been previously reported in association with this disorder. This case report describes a rare manifestation of multiple impacted teeth and near complete edentulism in an adult patient diagnosed with Infantile Refsum disease (IRD). Material and Methods: The patient, a 24-year-old female, presented with a skeletal Class III malocclusion, severe maxillary hypoplasia, and complete impaction of the permanent dentition. The diagnosis of Infantile Refsum disease (IRD) was genetically confirmed and was associated with both neurological and dermatological manifestations. Conclusions: This case underscores that severe disturbances in tooth eruption and impaction may represent underrecognized manifestations of metabolic and genetic disorders such as Infantile Refsum disease (IRD). Dental professionals should remain vigilant to the potential association between systemic conditions and delayed or failed tooth eruption, emphasizing the need for interdisciplinary management and further investigation.