Xanthomatosis cerebrotendinousE75.5
Synonym(s)
Cerebrotendinous xanthomatosis; van Bogaert-Scherer-Epstein Syndrome
HistoryThis section has been translated automatically.
Van Bogaert, Epstein and Scherer, 1937
DefinitionThis section has been translated automatically.
Rare familial cholesterol storage disease, clinically characterized by early tendon xanthomas and progressive neurological disorders.
EtiopathogenesisThis section has been translated automatically.
Autosomal recessive inheritance. Relatively frequent occurrence in Jewish Sephardic families of Moroccan origin. Two mutations are known in the C27 hydroxylase gene (CYP27 and CTX), which is located at the distal end of the long arm on chromosome 2 (2q33-qter). The gene encodes the mitochondrial cytochrome P 450 of subfamily 27 and the sterol 27 hydroxylase. The enzyme defect leads to a disturbance of bile acid synthesis and accumulation of cholestanol. The vitamin D metabolism can also be disturbed by the enzyme defect.
Clinical featuresThis section has been translated automatically.
Multiple tendon xanthomas already in childhood. Normal plasma cholesterol concentration. Increase of the plasma molestanol concentration. Premature cataract. Dementia. Pyramidal trajectory signs. Cerebellar ataxia. Bulbar paralysis. Premature atherosclerosis. Possible osteoporosis.
Differential diagnosisThis section has been translated automatically.
Differentiation from other diseases with early tendon exanthomas by determination of plasma cholesterol and, if applicable, LDL receptors on monocytes (familial hypercholesterolemia), by determination of the Apo-E phenotype (familial hyperlipoproteinemia type III) and by determination of plant sterols in serum (sitosterolemia with xanthomatosis).
TherapyThis section has been translated automatically.
Early therapeutic use of chenodesoxycholic acid can prevent the development of neurological symptoms.
LiteratureThis section has been translated automatically.
- Leitersdorf E, Reshef A, Meiner V et al (1993) Frameshift and splice-junction mutations in the sterol-27-hydroxylase gene cause cerebrotendinous xanthomatosis in jews of moroccan origin. J Clin Invest 91: 2488-2496
- van Bogaert L, Scherer HJ, Epstein E (1937) Une forme cérébrale de la cholestérinose généralisée. Masson, Paris.