Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults. It is treatable, and a prompt diagnosis can improve outcomes. We describe a patient with this condition who presented with progressive ataxia.
- cerebrotendinous xan
- cerebellar ataxia
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Contributors SMB was the attending doctor of the patient and performed the neurological examination, prescribed medicines and decided the patient’s management. MRMA served scientific advice about whole-exome sequencing and genetic consultation. HM performed scientific advice about MRI findings.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed by Marios Hadjivasssiliou, Sheffield, UK.