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Case Reports
, 30 (6), 657-9

Skeletal Changes in Refsum's Disease

Case Reports

Skeletal Changes in Refsum's Disease

W J Wall et al. Clin Radiol.


Refsum's disease is a rare inherited disease of lipid metabolism. The cardinal diagnostic features include polyneuritis, cerebellar ataxia, an atypical pigmentosa and a high CSF protein. The disorders is accompanied by the accumulation in the tissues, especially the liver and kidneys, of the lipid 'phytanic acid'. The disease is due to the absence of the enzyme phytanic acid alpha-hydroxylase which catalyses the conversion of phytanic acid to alpha-hydroxy phytanic acid the initial step in its further metabolism. In his original monograph Refsum (1945) documented a number of skeletal abnormalities and the full spectrum of changes that occur has become clear though the accumulating subsequent reports. This paper documents the osseous changes in three members with the disease in a single family. These include epiphyseal dysplasia, especially pronounced in the knees, and shortening and deformity of many of the tubular bones in the hands and feet.

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Cited by 2 articles

  • Hypokalaemia in acute Refsum's disease.
    Dick JP, Meeran K, Gibberd FB, Rose FC. Dick JP, et al. J R Soc Med. 1993 Mar;86(3):171-2. J R Soc Med. 1993. PMID: 7681479 Free PMC article. No abstract available.
  • Case report 175: Refsum syndrome.
    Lovelock J, Griffiths H. Lovelock J, et al. Skeletal Radiol. 1981;7(3):214-7. doi: 10.1007/bf00361869. Skeletal Radiol. 1981. PMID: 6173924 No abstract available.

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