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[Cerebrotendinous xanthomatosis].

¹Universitair Medisch Centrum St Radboud, Interdisciplinair Kinderneurologisch Centrum, Postbus 9101, 6500 HB Nijmegen. a.verrips@ckskg.azn.nl

Nederlands Tijdschrift Voor Geneeskunde

|September 20, 2001

Summary

Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disorder. Early diagnosis and chenodeoxycholic acid treatment can significantly improve chronic diarrhoea and neurological symptoms in CTX patients.

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Area of Science:

Biochemistry
Genetics
Neurology

Background:

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disorder.
Clinical presentation includes juvenile cataracts, chronic diarrhea, progressive neurological deficits, and tendon xanthomas.
Phenotypic variability can delay diagnosis.

Observation:

Two patients, a 24-year-old woman and a 13-year-old boy, presented with long-standing diarrhea, walking difficulties, and visual complaints.
Suspicion of CTX was confirmed through biochemical and genetic testing.
Treatment initiated with chenodeoxycholic acid.

Findings:

Following chenodeoxycholic acid treatment, diarrhea resolved completely in both patients.
Neurological symptoms showed significant improvement.
Biochemical diagnosis relies on elevated serum cholestanol and urinary bile alcohol levels, confirmed by mutation analysis.

Implications:

CTX is a treatable condition, underscoring the importance of early diagnosis.
Prompt identification and intervention can prevent or reverse severe clinical manifestations.
This case highlights the efficacy of chenodeoxycholic acid in managing CTX symptoms.

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