SynopsisCodesDifferential Diagnosis & PitfallsBest TestsReferences
Cerebrotendinous xanthomatosis
Other Resources UpToDate PubMed

Cerebrotendinous xanthomatosis

Contributors: Marilyn Augustine MD
Other Resources UpToDate PubMed


A rare, autosomal recessive lipid-storage disorder caused by a defect in the CYP27A1 gene that results in abnormalities of lipid metabolism. Characterized by progressive neurologic dysfunction, premature atherosclerosis, and development of cataracts. Common signs and symptoms include chronic diarrhea, cholestasis, and liver abnormalities in the neonate, and childhood-onset bilateral cataracts. There have been reported deaths in early infancy. A life-threatening condition may be triggered by early symptoms, and watchfulness is imperative to prevent fatal complications. Later-onset findings include xanthomas of the connective tissue in adolescents and young adults. Brittle bones, atherosclerosis, and jaundice are not uncommon. Adult-onset (20s and 30s) neurological findings include cerebellar ataxia, movement difficulties, dysarthria, dementia, spasticity, and seizures. Hallucinations, personality changes, agitation, depression, and other psychiatric findings may occur.

Management focuses on limiting progressive damage, managing symptoms, treating deficiencies with medication, and replacement therapies. Cataract surgery may be necessary in middle-aged patients. If treated, prognosis is generally good for normal lifespan.


E75.5 – Other lipid storage disorders

63246000 – Cholestanol storage disease

Differential Diagnosis & Pitfalls

  • Myotonic dystrophy
  • Sitosterolemia
  • Other hyperlipidemias
  • Other disorders of bile acid synthesis
  • Niemann-Pick disease type C

Best Tests

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Last Updated:01/12/2022
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Cerebrotendinous xanthomatosis
A medical illustration showing key findings of Cerebrotendinous xanthomatosis : Diarrhea, Seizures, Jaundice, Spasticity, Cataract
Copyright © 2024 VisualDx®. All rights reserved.