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Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis
Gulshan Yunisova1, Zeynep Tufekcioglu2, Okan Dogu3
1Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Insights
Cerebrotendinous xanthomatosis (CTX) is a rare lipid disorder often diagnosed late. Early diagnosis and chenodeoxycholic acid (CDCA) treatment can stabilize neurological symptoms and improve gastrointestinal issues in CTX patients.
Area of Science:
- Rare genetic disorders
- Inborn errors of metabolism
- Neurodegenerative diseases
Background:
- Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by CYP27A1 gene mutations.
- Clinical symptoms typically manifest in infancy, but diagnosis is frequently delayed.
- This study focuses on Turkish patients with CTX, highlighting diagnostic delays despite early signs.
Purpose of the Study:
- To report the largest series of Cerebrotendinous xanthomatosis (CTX) cases in Turkey.
- To analyze clinical, laboratory, imaging, and genetic findings in CTX patients with delayed diagnoses.
- To evaluate the efficacy of chenodeoxycholic acid (CDCA) treatment in managing CTX symptoms.
Main Methods:
- Retrospective evaluation of 7 Turkish CTX patients from 6 unrelated families across two specialized centers.
- Analysis of clinical, laboratory, imaging, and genetic data.
- Assessment of patient response to chenodeoxycholic acid (CDCA) treatment.
Main Results:
- Patients were diagnosed at a mean age of 38.7 years, with symptom onset at 12.4 years, indicating significant diagnostic delay.
- Common initial symptoms included chronic diarrhea, febrile convulsions, juvenile cataracts, depression, autism, parkinsonism, and intellectual disability.
- All patients showed elevated serum cholestanol levels, which decreased with CDCA treatment. Neurological symptoms stabilized, and gastrointestinal issues improved.
Conclusions:
- This series underscores the critical need for early diagnosis and intervention in Cerebrotendinous xanthomatosis (CTX).
- Chenodeoxycholic acid (CDCA) treatment demonstrated effectiveness in improving gastrointestinal symptoms and halting neurological progression.
- Timely diagnosis and treatment are essential to prevent irreversible clinical deterioration in CTX patients.
Objectives:
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pathogenic mutations in the CYP27A1 gene. Although the symptoms begin commonly in infancy, CTX diagnosis is often delayed. In this study, we report 7 Turkish CTX patients who had a delayed diagnosis despite early clinical signs and belonged to 6 unrelated families.
Methods:
We have retrospectively evaluated clinical, laboratory, imaging, and genetic findings of CTX patients, which were collected from 2 centers specialized in movement disorders: the Department of Neurology, Faculty of Medicine, Istanbul University, and the Department of Neurology, Faculty of Medicine, Mersin University.
Results:
All patients were diagnosed with CTX after neurological symptom development, and their mean age at diagnosis was 38.7 ± 9.6 years, despite a mean onset age of 12.4 ± 10.6 years. The mean follow-up period was 28 months (range: 3-60 months). The most common initial clinical abnormalities in our cohort were unexplained chronic diarrhea (42%), febrile convulsion (42%), juvenile cataract (85%), childhood depression and autism (14%), parkinsonism (14%), and intellectual disability (100%). The most prominent neurological findings were the pyramidal-cerebellar syndrome (85%) and extrapyramidal signs (42%). All patients were genetically confirmed. Serum cholestanol levels were elevated in all patients and decreased after chenodeoxycholic acid (CDCA) treatment in 6 patients.
Conclusion:
This cohort is the largest CTX case series in Turkey. All cases showed improvement in gastrointestinal symptoms as a response to CDCA treatment and stabilization on neurological symptoms, i.e., no further progression of neurological abnormalities were noted during this treatment. Therefore, early diagnosis and treatment is crucial in preventing clinical deterioration.
