Chronic Diarrhea and Juvenile Cataracts: Think Cerebrotendinous Xanthomatosis and Treat
- 1 January 2009
- journal article
- case report
- Published by American Academy of Pediatrics (AAP) in PEDIATRICS
- Vol. 123 (1), 143-147
- https://doi.org/10.1542/peds.2008-0192
Abstract
Cerebrotendinous xanthomatosis is an autosomal recessive disease of bile acid synthesis caused by 27-hydroxylase deficiency. Treatment with chenodeoxycholic acid normalizes cholestanol concentrations and abrogates progression of the disease. We present 4 patients with cerebrotendinous xanthomatosis within 1 family who were treated with chenodeoxycholic acid for 14 years. Two young sisters started treatment at the preclinical stage before the appearance of major symptoms. Their 2 older uncles, who had already developed the complete phenotypic form of cerebrotendinous xanthomatosis when diagnosed, commenced treatment at the same time as the sisters, thus establishing a natural control group. After 14 years of chenodeoxycholic acid therapy, the cholestanol levels of all 4 patients decreased to normal levels (<6 μg/mL). Both sisters remained asymptomatic. Only moderate improvement in symptoms was observed in their uncles. In this long-term study, prompt preclinical administration of chenodeoxycholic acid in early childhood completely prevented the cerebrotendinous xanthomatosis phenotype in 2 sisters. Pediatricians should be aware of this diagnostic possibility of cerebrotendinous xanthomatosis in children presenting with chronic diarrhea and juvenile cataracts. Prevention is particularly significant in light of the availability of early genetic diagnosis and the devastating effects of this illness if not treated.Keywords
This publication has 19 references indexed in Scilit:
- Hydrophilic 7β-hydroxy bile acids, lovastatin, and cholestyramine are ineffective in the treatment of cerebrotendinous xanthomatosisMetabolism, 2004
- Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosisBrain, 2000
- Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapyQJM: An International Journal of Medicine, 1996
- The neuropathology of cerebrotendinous xanthomatosis revisited: a case report and review of the literatureActa Neuropathologica, 1995
- Treatment of cerebrotendinous xanthomatosis: effects of chenodeoxycholic acid, pravastatin, and combined useJournal of the Neurological Sciences, 1994
- Comparative effects of lovastatin and chenodeoxycholic acid on plasma cholestanol levels and abnormal bile acid metabolism in cerebrotendinous xanthomatosisMetabolism, 1994
- Cerebrotendinous xanthomatosisCurrent Opinion in Lipidology, 1994
- Cerebrotendinous xanthomatosisNeurology, 1994
- Long-Term Treatment of Cerebrotendinous Xanthomatosis with Chenodeoxycholic AcidNew England Journal of Medicine, 1984
- Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous XanthomatosisBiochemical Medicine, 1975