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Infantile refsum disease in four Amish sibs
P I Bader1, S Dougherty, N Cangany
1Department of Cytogenetics, Parkview Hospital, Fort Wayne, Indiana, USA. PBader2792@aol.com
American Journal of Medical Genetics
|December 23, 1999
Summary
Infantile Refsum disease (IRD) is a genetic disorder causing vision and hearing loss, developmental delays, and neuromotor issues. This report details four Amish siblings with IRD, noting unique dental and behavioral symptoms.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Infantile Refsum disease (IRD) is a rare, inherited metabolic disorder.
- It is characterized by a spectrum of neurological and physical impairments.
Observation:
- A report on four Amish siblings from a consanguineous union diagnosed with IRD.
- Affected individuals presented with impaired vision, hearing loss, developmental delays, and neuromotor deficits.
Findings:
- Biochemical testing confirmed the diagnosis of IRD in the affected siblings.
- Distinctive yellow-orange, poorly formed teeth were observed in at least three siblings.
- Behavioral issues were noted in the affected females.
Implications:
- Highlights the phenotypic variability of IRD, including dental anomalies.
- Suggests potential genotype-phenotype correlations within the Amish population.
- Emphasizes the importance of comprehensive clinical evaluation for IRD diagnosis.
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