Cerebrotendinous Xanthomatosis: diversity of presentation and refining treatment with chenodeoxycholic acid.
Mahjabin IslamNigel HoggardMarios Hadjivassiliou
Published in: Cerebellum & ataxias (2021)
A high index of suspicion for CTX, even in the absence of the classical triad is essential in reaching such diagnosis. The earlier the diagnosis and treatment, the better the outcome.