Cerebrotendinous xanthomatosis (CTX) is a rare and treatable autosomal recessive disease. The diagnosis should be suspected in the presence of a suggestive clinical triad characterized by early-onset cataract, tendinous xanthomata and neurological symptoms and signs, notably cerebellar ataxia, mental retardation and pyramidal syndrome.The diagnosis is confirmed by demonstrating an increased blood level of cholestanol, or/and by molecular genetic analysis.In typical cases, brain MRI shows bilateral hyperintensity of the cerebellar nucleus dentatus together with cerebral atrophy and leukoencephalopathy. The treatment is based on the administration of chenodeoxycholic acid. The aim is to restore the negative feedback on the enzymatic cascade altered by mutation in the gene CYP27 which induces a 27-hydroxylase deficiency
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Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews.
Mol Genet Metab
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Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:
Cerebrotendinous Xanthomatosis (CTX) is a treatable, inborn error of bile acids metabolism caused by pathogenic variants in CYP27A1. CTX is a multi-organ system disorder that progresses over decades. Clinical features include cerebellar dysfunction, pyramidal tract dysfunction, cognitive deficits and decline, peripheral neuropathy, chronic diarrhea, bilateral cataracts, and tendon xanthomas.
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Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition.
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Article Synopsis
- CTX (cerebrotendinous xanthomatosis) is a rare genetic lipid storage disease that can be difficult to diagnose due to its varied symptoms, often leading to confusion with other conditions like hereditary spastic paraplegia (HSP).
- A case study of a 53-year-old woman showed a 25-year history of spastic paraparesis and, after years of undiagnosed progression, she was finally diagnosed with CTX through genetic testing revealing a variant in the CYP27A1 gene.
- The patient's treatment included chenodeoxycholic acid, which stabilized her condition, but the advanced state of her disease limited improvement, highlighting the need for thorough investigation and awareness of CTX
Cerebrotendinous xanthomatosis: a literature review and case study.
Front Cardiovasc Med
December 2024
Department of Cardiology, INSERM UMR 1295, Toulouse University Hospital, Toulouse, France.
Cerebrotendinous xanthomatosis (CTX) is a rare but treatable inherited neurometabolic disorder that can lead to severe sequelae if left untreated. Chenodeoxycholic acid is a safe and effective treatment for CTX. Early diagnosis is essential to improve patient outcomes.
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