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European Journal of Pediatrics

, Volume 157, Issue 4, pp 313–316 | Cite as

Treatment and follow-up of children with cerebrotendinous xanthomatosis

  • A. F. J. van Heijst
  • A. Verrips
  • R. A. Wevers
  • J. R. M. Cruysberg
  • W. O. Renier
  • J. J. M. Tolboom
METABOLIC DISEASES

Abstract

The clinical spectrum and the effects of treatment over a period of 5 years in five children with cerebrotendinous xanthomatosis (CTX) are described. In all children biochemical, neuroradiological, and neurophysiological studies were done. CTX was diagnosed and effects of therapy were evaluated by determination of the serum cholestanol/cholesterol ratio (CCR) and the urinary excretion of bile alcohols. All children were treated with chenodeoxycholic acid (15 mg/kg/day) in three divided oral doses. Diarrhoea and juvenile cataract were the main clinical features. Psychomotor retardation, pyramidal and cerebellar signs were also found. After starting treatment, biochemical abnormalities normalized and diarrhoea disappeared. After 1 year of therapy there was no further delay in motor development, and in three children the intelligence quotient improved. EEG abnormalities disappeared. After 5 years of therapy the children are in a stable clinical condition.

Conclusion The clinical, biochemical and neurophysiological abnormalities in five children with CTX showed a remarkable improvement after starting treatment with chenodeoxycholic acid. The early diagnosis of CTX and the start of treatment with chenodeoxycholic acid has prevented neurological deterioration for a period of 5 years.

Key words Cerebrotendinous xanthomatosis Clinical spectrum Treatment Follow up 

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Copyright information

© Springer-Verlag Berlin Heidelberg 1998

Authors and Affiliations

  • A. F. J. van Heijst
    • 1
  • A. Verrips
    • 2
  • R. A. Wevers
    • 2
  • J. R. M. Cruysberg
    • 3
  • W. O. Renier
    • 2
  • J. J. M. Tolboom
    • 1
  1. 1.Department of Paediatrics, University Hospital Nijmegen, P.O. Box 9101, NL-6500 HB Nijmegen, The Netherlands, e-mail: A.vanHeijst@CKSKG@azn.nl, Tel: +31-24-3613860, Fax: +31-24-3619123NL
  2. 2.Department of Neurology, University Hospital Nijmegen, The NetherlandsNL
  3. 3.Department of Ophthalmology, University Hospital Nijmegen, The NetherlandsNL

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