Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat.
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 microg/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.
Berginer
Vladimir M
VM
Department of Neurology, Soroka Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba, Israel.
Gross
Bella
B
Morad
Khayat
K
Kfir
Nechama
N
Morkos
Siman
S
Aaref
Salameh
S
Falik-Zaccai
Tzipora C
TC
D000293:Adolescent; D000328:Adult; D001647:Bile Acids and Salts / Q000037:antagonists & inhibitors / Q000096:biosynthesis; D002386:Cataract / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use*; D002675:Child, Preschool; D002908:Chronic Disease; D003937:Diagnosis, Differential; D003967:Diarrhea / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D015995:Prevalence; D013995:Time; D019294:Xanthomatosis, Cerebrotendinous / Q000175:diagnosis* / Q000188:drug therapy* / Q000453:epidemiology / Q000235:genetics; D055815:Young Adult
D001647:Bile Acids and Salts; D002635:Chenodeoxycholic Acid