Abstract: Objective To investigate the clinical manifestations, imaging features and gene mutations of 1 patient with cerebrotendinous xanthomatosis(CTX), in order to raise clinicians awareness of this disease. Methods The clinical data of 1 patient with CTX treated in our hospital were analyzed, and relevant literature was reviewed. Results The male patient was 30 years old, with poor vision since childhood, admitted to our hospital due to unstable walking for 2 years. Physical examination showed bilateral Achilles tendon masses and cavus, high muscle tone in the extremities, and positive bilateral pyramidal tract sign. Brain MRI showed slightly high intensity in bilateral cerebellar dentate nuclei on T2WI. Ankle MRI showed bilateral Achilles tendon xanthoma. The scores of Mini Mental State Examination and Montreal Cognitive Assessment were 15/30 and 10/30, respectively. Genetic testing of the patient and his parents showed the patient had compound heterozygous for c.1214G > A and c.1004C > T in CYP27A1. Conclusion Early symptoms of CTX are occult and non-specific. Patients may have a history of neonatal chronic diarrhea, juvenile cataract, juvenile osteoporosis and tendon xanthoma. When patients develop neurological symptoms such as cognitive impairment, progressive ataxia and pyramidal tract sign, CTX should be considered and genetic testing should be performed as early as possible. Early treatment can delay disease progression.

Key words: Cerebrotendinous xanthomatosis, Ataxia, Cognitive impairment, CYP27A1 gene