Heredopathia atactica polyneuritiformis: Refsum's disease

Acta Neurol Scand. 1985 Jul;72(1):1-17. doi: 10.1111/j.1600-0404.1985.tb01541.x.

Abstract

Seven patients with Heredopathia Atactica Polyneuritiformis are described. There were 3 groups of clinical characteristics: first, congenital abnormalities such as skeletal deformities, unrelated to phytanic acid levels; second, signs and symptoms such as retinitis pigmentosa which come on slowly and are not directly related to the plasma phytanic acid level; third, lesions such as the neuropathy, rash and cardiac arrhythmias which can change quickly and are linked to the plasma phytanic acid level. Exacerbations of the signs in the third group are precipitated by a low calorie intake and mobilisation of phytanic acid from the adipose tissue. Poor vision is due not only to retinitis but also to small pupils which fail to dilate in the dark. The use of plasma exchange is discussed. With good dietary supervision it is possible to produce a considerable clinical recovery for the neuropathy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adipose Tissue / metabolism
  • Adult
  • Body Weight
  • Combined Modality Therapy
  • Energy Intake
  • Humans
  • Male
  • Neural Conduction
  • Phytanic Acid / administration & dosage
  • Phytanic Acid / blood
  • Plasma Exchange
  • Refsum Disease / diagnosis*
  • Refsum Disease / diet therapy
  • Refsum Disease / genetics
  • Zinc / blood

Substances

  • Phytanic Acid
  • Zinc