Objective: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease. It is caused by the deficiency of mitochondrial enzyme sterol 27-hydroxylase due to various pathogenic mutations. Clinical phenotype is characterized by juvenile cataract, chronic diarrhea, tendon xanthomas and a broad range of neurological symptoms, including pyramidal and cerebellar signs, cognitive impairment, parkinsonism and epilepsy.

Background: The progressive course of the disease can be prevented if treated early with chenodeoxycholic acid.

Methods: We present six cases diagnosed with CTX in the Neurology Department of Istanbul Faculty of Medicine.

Results: Patients (four females, 2 males; mean age: 31.2±9.3, range 24-38 years) were from five unrelated families carrying homozygous CYP27A1mutations. Age at disease onset varied from 5 to 21 years. Juvenile cataract was the initial and presenting clinical feature in all patients. Other phenotypic features included achille tendons xanthomas (n=6), chronic diarrhea (n=3) and febrile convulsions (n=3). All patients were children from consanguineous marriages. Neurological symptoms included cerebellar dysartria, bilateral pyramidocerebellar symptoms, cognitive impairment, oromandibular/cervical dystonia and pes cavus. Cranial MRI showed hyperintense lesions in bilateral cerebral white matter, especially near the posterior horn of lateral ventricules, globus pallidus, cerebellar hemispheres and dentate nucleus in the T2 weighted and FLAIR images. Laboratory analysis revealed high serum cholestanol levels and mutations in CYP27A1 gene in all patients. Chenodeoxycholic acid treatment was initiated in all cases.

Conclusions: Along with systemic findings CTX can present with a variety of neurological abnormalities including movement disorders. An early diagnosis is important, as an effective treatment is available.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/cerebrotendinous-xanthomatosis-a-rare-lipid-storage-disease/