Document Detail

Skeletal changes in Refsum's disease.
MedLine Citation:
PMID:  92386     Owner:  NLM     Status:  MEDLINE    
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.
W J Wall; B S Worthington
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical radiology     Volume:  30     ISSN:  0009-9260     ISO Abbreviation:  Clin Radiol     Publication Date:  1979 Nov 
Date Detail:
Created Date:  1980-02-26     Completed Date:  1980-02-26     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  1306016     Medline TA:  Clin Radiol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  657-9     Citation Subset:  IM    
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MeSH Terms
Bone and Bones / abnormalities*,  radiography
Foot / radiography
Foot Deformities, Congenital
Hand / radiography
Hand Deformities, Congenital
Knee Joint / abnormalities,  radiography
Refsum Disease / genetics,  radiography*

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