Oct 14, 1977

Refsum's syndrome (author's transl)

Deutsche medizinische Wochenschrift
R ThümlerG Haferkamp

Abstract

Heredopathia atactica polyneuritiformis (Refsum's syndrome) is an autosomal recessively inherited lipidosis characterized by the following signs: peripheral hypertrophic polyneuropathy, cerebellar ataxia, atypical retinitis pigmentosa with night blindness and concentric limitation of the visual fields, anosmia, inner ear hearing disturbances, skeletal anomalies, ichthyotic skin changes, raised protein in the CSF without a cellular increase, and non-specific ECG changes. Biochemically it is a lipidosis with atypical increase of phytanic acid in blood, CSF, and tissues. The metabolic defect results from a degradation disturbance of exogenous phytanic acid. The report of a patient whose clinical picture plus chemical, neurophysiological and histological results led to the diagnosis of Refsum's syndrome is presented. Using a low phytol- and phytanic-acid diet a marked decrease of phytanic acid in the serum and an improvement of the clinico-neurological signs were observed.

  • References
  • Citations2

References

  • We're still populating references for this paper, please check back later.
  • References
  • Citations2

Citations

Mentioned in this Paper

Metabolic Process, Cellular
Polyneuropathy
Night Blindness
Hypertrophy
Skeletal System
Thyroid Hormone Plasma Membrane Transport Defect
Phytol
Iridogoniodysgenesis and Skeletal Anomalies
Hypertrophic Disorder of Skin, Unspecified
Refsum Disease

Related Feeds

Ataxia telangiectasia (MDS)

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

Ataxia telangiectasia

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.