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Micro-dissection of Enamel Organ from Mandibular Incisor of Rats Exposed to Environmental Toxicants

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Infantile refsum disease with enamel defects: a case report.

Dorothy Tran¹, William Greenhill, Stephen Wilson

¹Division of Pediatric Dentistry, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

Pediatric Dentistry

|June 28, 2011

Summary

Infantile Refsum disease (IRD), a rare genetic disorder, can cause widespread enamel defects in both primary and permanent teeth. This case highlights a significant, previously unreported dental anomaly in pediatric patients with IRD.

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Area of Science:

Genetics
Pediatric Dentistry
Metabolic Disorders

Background:

Infantile Refsum disease (IRD) is an inherited autosomal recessive disorder affecting peroxisome function.
IRD manifests with diverse clinical symptoms including vision impairment, hearing loss, and neurological deficits.
Craniofacial abnormalities are common in IRD, but dental anomalies are rarely reported.

Observation:

This paper details a 15-year-old female diagnosed with IRD.
The patient exhibited generalized enamel defects affecting both primary and permanent dentition.
This is the first reported case of such dental anomalies in the pediatric dental literature associated with IRD.

Findings:

The case presents a novel association between infantile Refsum disease and extensive enamel defects.
The dental findings extend the known clinical spectrum of IRD.
This observation underscores the importance of comprehensive dental evaluations in IRD patients.

Implications:

Early identification of dental anomalies in IRD patients can aid in management.
This case expands the understanding of IRD's orofacial manifestations.
Further research is warranted to explore the genetic and molecular basis of dental defects in IRD.