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Cerebrotendinous xanthomatosis without neurological involvement
B M L Stelten1, F J Raal2, A D Marais3
1From the, Department of Neurology, Catharina Hospital, Eindhoven, The Netherlands.
Journal of Internal Medicine
|April 8, 2021
Summary
Cerebrotendinous xanthomatosis (CTX) can present with a milder phenotype, primarily featuring tendon xanthomas without neurological symptoms. Early diagnosis is crucial as CTX is treatable, even without initial neurological signs.
Area of Science:
- Metabolic disorders
- Genetics
- Neurology
Background:
- Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder.
- Neurological symptoms are typical in adult CTX patients.
- A milder CTX phenotype without neurological involvement is described.
Purpose of the Study:
- To investigate the clinical heterogeneity of CTX.
- To determine the frequency of adult CTX patients without neurological symptoms.
- To identify novel mutations in the CYP27A1 gene.
Main Methods:
- Retrospective patient file study of 79 Dutch CTX patients.
- Inclusion of international CTX cases from literature.
- Genetic confirmation of CTX.
Main Results:
- 19 adult CTX patients from 16 families presented without neurological symptoms.
- Tendon xanthomas were the predominant feature in 84% of these patients.
- Three novel CYP27A1 mutations were identified.
Conclusions:
- CTX exhibits significant clinical heterogeneity, including a milder phenotype.
- Adults with CTX may present solely with tendon xanthomas, mimicking familial hypercholesterolemia.
- Early diagnosis and treatment are essential due to the potential for future neurological complications.
