Cerebrotendinous Xanthomatosis: diversity of presentation and refining treatment with chenodeoxycholic acid

Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare but treatable neurometabolic disorder of lipid storage and bile acid synthesis. Whilst CTX said to present with the classic triad juvenile onset cataracts, tendon xanthomata progressive ataxia, diversity presentation can be such that diagnosis may substantially delayed resulting in permanent neurological disability. Methods A retrospective review clinical characteristics imaging findings 4 patients presenting Sheffield Ataxia Centre over period 25 years. Results Although CTX-related symptoms were from childhood, median age at was 39 Only 1 cases had xanthomata, only 2 cataracts 3 ataxia one patient spastic paraparesis. Serum cholestanol elevated all patients, proving reliable diagnostic tool. In addition, raised CSF who underwent lumbar puncture. Despite treatment chenodeoxycholic (CDCA) normalization serum cholestanol, remained high patient, necessitating increase dose CDCA. Further adjustments CDCA resulted slowing progression. Two have disease for longest continued progress, subsequently dying pneumonia. Conclusion index suspicion CTX, even absence classical essential reaching diagnosis. The earlier treatment, better outcome.