Cerebrotendinous xanthomatosis

Need for early diagnosis

Bibliographic Data

ID23533232
AuthorsK Muhammed, G Nandakumar, S Saritha
Year2006
Volume72
Issue5
Pages364
Publication date2006-01-01
Peer ReviewedYes
Open AccessYes
TypeARTICLE
VenueIndian Journal of Dermatology, Venereology and Leprology (JOURNAL)
Journal identifiersISSN: 0378-6323 • E-ISSN: 0973-3922
PublisherScientific Scholar (PUBLISHER • IN)
DOI10.4103/0378-6323.27754
OpenAlexW17050932
LanguageEN
Citations received14
References cited2

Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disease characterized by widespread tissue deposition of two neutral sterols, cholestanol and cholesterol, resulting in tendinous xanthomas, juvenile cataracts, progressive neurological defects and premature death from arteriosclerosis. The primary biochemical defect is deficiency of hepatic mitochondrial enzyme sterol-27-hydroxylase which catalyses the hydroxylation of cholestanol (5-alpha dehydro derivative of cholesterol) and this deficiency decreases bile acid synthesis. Substantial elevation of serum cholestanol and urinary bile alcohols with low to normal plasma cholesterol concentration establishes the diagnosis. Cerebrotendinous xanthomatosis is exceptionally rare in the Indian population. We are reporting a woman with this rare disorder, who was on antiepileptic and antipsychotic drugs for a prolonged period and whose original condition went undiagnosed. She presented with xanthomas on the Achilles tendons and the upper end of tibia. She was mentally subnormal and her serum cholestanol level was raised. Her younger sister too was severely affected by this disorder. Early treatment with chenodeoxycholic acid is known to prevent disease progression.

Developing country · Development economics · Economic geography · Economic growth · Economics · Geography · Employment and Welfare Studies · Migration and Labor Dynamics · Migration, Ethnicity, and Economy

Tools

Open DOI