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EXPERIENCE & REASON: Vladimir M. Berginer, Bella Gross, Khayat Morad, Nechama Kfir, Siman Morkos, Salameh Aaref, and Tzipora C. Falik-Zaccai Chronic Diarrhea and Juvenile Cataracts: Think Cerebrotendinous Xanthomatosis and Treat Pediatrics 2009; 123: 143-147 [Abstract] [Full text] [PDF]

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Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat

Johannes R. M. Cruysberg, Ron A. Wevers, Jules J. M. Tolboom   (18 January 2009)

Efficacy and safety of chenodeoxycholic acid in cerebrotendinous xanthomatosis

Gabriella Nebbia, Chiara Amoruso,Giuseppe Giordano,Marina Del Puppo,Gian N. Gallus,Maria S. Scotta,Maria T. Dotti   (8 September 2009)

Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat 18 January 2009
Johannes R. M. Cruysberg, Professor of Clinical Neuro-ophthalmology Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, Ron A. Wevers, Jules J. M. Tolboom Send letter to journal: Re: Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat j.cruysberg{at}ohk.umcn.nl Johannes R. M. Cruysberg, et al.	We were very enthusiast to read the advice of Berginer and coworkers that pediatricians should be aware that children presenting with chronic diarrhea and juvenile cataracts may suffer from cerebrotendinous xanthomatosis (CTX).[1] We discovered the importance of this association in 1991.[2] The suggestion, that the association of juvenile cataract and chronic diarrhea may represent the earliest clinical manifestation of CTX, was one of the major conclusions in a PhD thesis of one of us in 1996.[3] Therefore it is disappointing that our original work concerning ‘the juvenile cataract and chronic diarrhea syndrome’ which was published in the American Journal of Ophthalmology in 1991 and 1995 is not properly cited.[2,4] REFERENCES 1. Berginer VM, Gross B, Morad K, Kfir N, Morkos S, Aaref S, Falik- Zaccai TC. Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat. Pediatrics. 2009;123(1):143-147 2. Cruysberg JRM, Wevers RA, Tolboom JJM. Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis. Am J Ophthalmol. 1991;112(5):606-607 3. Cruysberg JRM. The crystalline lens as a reflection of hereditary and metabolic disease [thesis]. Nijmegen, the Netherlands: Radboud University; 1996:1-224. [ISBN 90-9009939-5] 4. Cruysberg JRM, Wevers RA, Pinckers A, van Engelen BGM, van Spreeken A, Tolboom JJM. Ocular and systemic manifestations of cerebrotendinous xanthomatosis. Am J Ophthalmol. 1995;120(5):597-604 Conflict of Interest: None declared
Efficacy and safety of chenodeoxycholic acid in cerebrotendinous xanthomatosis 8 September 2009
Gabriella Nebbia, Pediatric hepatologist U.O. Pediatria II Fondazione Policlinico,Mangiagalli, Regina Elena, Milano, Italy, Chiara Amoruso,Giuseppe Giordano,Marina Del Puppo,Gian N. Gallus,Maria S. Scotta,Maria T. Dotti Send letter to journal: Re: Efficacy and safety of chenodeoxycholic acid in cerebrotendinous xanthomatosis gabriella.nebbia{at}policlinico.mi.it Gabriella Nebbia, et al.	Dear Editor, Berginer et al. 2009 (1) describe their experience of treatment of cerebrotendinous xanthomatosis (CTX) with chenodeoxycholic acid (CDCA) in four patients; three out of them had been diagnosed in pediatric age, one as an adult. CDCA inhibits abnormal bile acid synthesis and reduces the formation and concentration of cholestanol and bile alcohols, thus preventing their accumulation in different organs and subsequent clinical manifestation. Among the four patients described by Berginer, an asymptomatic 2-year-old girl was diagnosed after familial screening and after fourteen years of treatment with CDCA is completely normal. We follow a child affected by CTX who presented neonatal cholestasis since the third month of life. Jaundice slowly resolved by six months of age and liver function tests completely normalized by eight months. At this age a therapy with CDCA was started; during a follow-up of three years liver function tests always remained within normal limits and the child had a physical and neurological normal development. Her serum cholestanol concentration, initially 31,4 ìg/mL, is now 6,89 ìg/mL (normal range: <6 ìg/mL). No side effect was noticed. Our patient, symptomatic during infancy and completely normal after three years of therapy, comfirms the efficacy of CDCA in preventing the evolution of the disease. Besides, like in Berginer’s experience, the treatment was quite safe. However, other authors (2) consider cholic acid as a safer option in this disease compared to CDCA, as “CDCA could cause diarrhea and exacerbate liver dysfunction in neonates and infants”. These authors described an asymptomatic child in which the therapy with cholic acid was started at 5 months of age: the therapy was indeed safe, but it did not prevent the appearance of slight neurologic manifestations. Our experience, with an early beginning of the treatment with CDCA, not only confirms the efficacy of the drug in preventing neurologic damage, but also demonstrates its total safety also at this age. In conclusion, even though further experience and long-term follow-up are necessary, our patient, the youngest one treated with CDCA ever described, would indicate in this therapy a quite safe and efficacious treatment of CTX, even in small children. 1. Beringer VM, Gross B, Morad K, Kfir N, Morkos S, Aaref S, Falik- Zaccai T. Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat. Pediatrics 2009; 123: 143-7 2. Pierre G, Setchell KDR, Blyth Jacqueline, Preece MA, Chakrapani A, Mckiernan P, Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy. JIMD 2008: Short report 145 Conflict of Interest: None declared