CYP27A1 mutation in a case of cerebrotendinous xanthomatosis: A case report

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disease caused by mutations in CYP27A1. It has a low incidence rate, insidious onset, and diverse clinical manifestations. It can be easily misdiagnosed and can go unrecognized by clinicians, leading to delayed treatment and worsened patient outcomes. CASE SUMMARY: A 38-year-old male was admitted to our hospital with a history of unabating unstable posture and difficulty in walking for more than 30 years. Subsequently based on the patient's medical history, clinical symptoms, magnetic resonance imaging and gene sequencing results, he was finally diagnosed with CTX. Due to the low incidence rate of the disease, clinicians have insufficient knowledge of it, which makes the diagnosis process more tortuous and prolongs the diagnosis time. CONCLUSION: Prompt diagnosis and treatment of CTX improve patient outcomes.