The clinical and demographic characteristics of patients with late-diagnosed cerebrotendinous xanthomatosis in a Turkish population.

Aim: The aim of this study was to examine the clinical, laboratory and demographic characteristics of patients diagnosed with cerebrotendinous xanthomatosis.

Materials and methods: This study included 11 patients followed up in the Paediatric Metabolism Polyclinic for a diagnosis of CTX. The diagnosis of CTX was made from high blood cholestanol level and CYP27A1 gene analysis. All the cases diagnosed with CTX for whom clinical and laboratory findings were evaluated were included in the study.

Results: Evaluation was made of 11 patients from 5 different families. The diagnosis was established 25 years after the symptoms first appeared. The diagnosis was made because of bilateral cataracts in 2 patients, tendon xanthomas in 2, and as a result of family screening in 7. Tendon xanthomas were present in 36.3 % of the patients, and there was a history of cataract in 54.5 %. In the current study, mental retardation was determined in 72 % of the patients, psychiatric findings in 36 %, epilepsy in 36 %, pyramidal-extrapyramidal findings in 45 %, and postural tremor in 54 %. In addition, neuropsychiatric symptoms were seen at different rates in patients with different gene alleles. No tendon xanthomas were determined in the cases with c.1263 + 4A>T and c.808C>T mutations. Cataract was determined in all the cases with homozygote c.1263 + 4A>T mutation.

Conclusion: In this study, it was determined that the cases were diagnosed late despite the onset of symptoms providing clues for diagnosis at an early age. It was determined that the delay in diagnosis was 25 years.