Published online December 29, 2008
PEDIATRICS Vol. 123 No. 1 January 2009, pp. 143-147 (doi:10.1542/peds.2008-0192)
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Submit a response
Right arrow View responses
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrowRequest Permissions
Citing Articles
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Berginer, V. M.
Right arrow Articles by Falik-Zaccai, T. C.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Berginer, V. M.
Right arrow Articles by Falik-Zaccai, T. C.
Related Collections
Right arrow Neurology & Psychiatry
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Facebook   Add to Reddit   Add to Technorati   Add to Twitter  
What's this?

EXPERIENCE & REASON

Chronic Diarrhea and Juvenile Cataracts: Think Cerebrotendinous Xanthomatosis and Treat

Vladimir M. Berginer, MD, PhDa, Bella Gross, MDb,c, Khayat Morad, PhDd, Nechama Kfir, MsCd, Siman Morkos, MDe, Salameh Aaref, MDe and Tzipora C. Falik-Zaccai, MDc,d

a Department of Neurology, Soroka Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba, Israel
b Department of Neurology
d Institute of Human Genetics, Western Galilee Hospital-Nahariya, Nahariya, Israel
c Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel
e Sherutei Briut Klalit, Western Galilee District, Israel

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.

Key Words: cerebrotendinous xanthomatosis • CTX • chronic diarrhea in infancy and childhood • juvenile cataracts • cholestanol • chenodeoxycholic acid • CDCA • CYP27A1 gene

Abbreviations: CTX, cerebrotendinous xanthomatosis • CDCA, chenodeoxycholic acid • EEG, electroencephalogram • CT, computed tomography • PCR, polymerase chain reaction • EMG, electromyogram

Accepted Mar 26, 2008.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Facebook Facebook   Add to Reddit Reddit   Add to Technorati Technorati   Add to Twitter Twitter    What's this?


eLetters:

Read all eLetters

Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat
Johannes R. M. Cruysberg, et al.
Pediatrics Online, 18 Jan 2009 [Full text]
Efficacy and safety of chenodeoxycholic acid in cerebrotendinous xanthomatosis
Gabriella Nebbia, et al.
Pediatrics Online, 8 Sep 2009 [Full text]