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Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal
B T Poll-The1, J M Saudubray, H A Ogier
1Clinique de Génétique Médicale, Hôpital des Enfants Malades, Paris, France.
Insights
Infantile Refsum disease patients exhibit symptoms similar to Zellweger syndrome, indicating multiple peroxisomal dysfunction. This study compares clinical data, highlighting the spectrum of severity in these rare genetic disorders.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Infantile Refsum disease (IRD) is a rare genetic disorder.
- Previous understanding suggested IRD involved isolated phytanic acid accumulation.
- Zellweger syndrome (ZS) and neonatal adrenoleukodystrophy (NALD) are other peroxisomal biogenesis disorders.
Observation:
- Three patients with IRD presented with intellectual disability, dysmorphia, chorioretinopathy, hearing loss, hepatomegaly, failure to thrive, and hypocholesterolemia.
- Liver biopsies revealed an absence of morphologically normal peroxisomes.
- Biochemical profiles were highly similar to those seen in ZS and NALD.
Findings:
- The patients' biochemical and morphological findings suggest multiple peroxisomal dysfunction, aligning with ZS and NALD.
- Comparison with long-term survivors of IRD, NALD, and ZS revealed overlapping clinical features.
- A spectrum of clinical severity exists, ranging from IRD to NALD and ZS.
Implications:
- This research expands the understanding of peroxisomal biogenesis disorders.
- It suggests a potential continuum between IRD, NALD, and ZS based on biochemical and clinical presentations.
- Further research into peroxisomal dysfunction is warranted to improve diagnosis and management of these conditions.
Abstract:
Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. Initially, only an accumulation of phytanic acid was thought to be present. More recent findings showed a biochemical profile very similar to that found in classical Zellweger syndrome or neonatal adrenoleukodystrophy. Morphologically typical peroxisomes were absent in the liver. All three disorders are associated with multiple peroxisomal dysfunction. Because of these similarities pertinent clinical data of our three patients are compared with those of reported patients diagnosed as having infantile Refsum disease, neonatal adrenoleukodystrophy or Zellweger syndrome who survived for several years. Attention is drawn to the difference in severity of clinical features, ranging from infantile Refsum's disease to neonatal adrenoleukodystrophy and, finally, to Zellweger syndrome.