cerebrotendinous xanthomatosis
CTX
Cerebrotendinous xanthomatosis (CTX) is a familial sterol storage disease based on an inborn error of metabolism involving bile acid synthesis.
Predominant clinical features are a chronic progressive neurological syndrome, mental deterioration, bilateral cataract and xanthomas.
The presence of xanthomas usually leads to the diagnosis, and the reverse is probably also true: without xanthomas the diagnosis will often not be made. CTX may therefore be less rare than commonly thought, and the incidence of xanthomas in CTX may be overestimated.
References
van Hellenberg Hubar JL, Joosten EM, Wevers RA. Cerebrotendinous xanthomatosis. Clin Neurol Neurosurg. 1992;94 Suppl:S165-7. PMID: 1320501