Published online Jun 26, 2022. doi: 10.12998/wjcc.v10.i18.6168
Peer-review started: November 4, 2021
First decision: March 7, 2022
Revised: March 15, 2022
Accepted: April 21, 2022
Article in press: April 21, 2022
Published online: June 26, 2022
Processing time: 224 Days and 12.7 Hours
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.
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.
Prompt diagnosis and treatment of CTX improve patient outcomes.
Core Tip: Cerebrotendinous xanthomatosis (CTX) is a rare disease for which prompt diagnosis and treatment improve patient outcomes. In addition, unreported new mutation and previously reported mutation were found in this patient. Thus, it provides new data for the further study of the pathogenesis of CTX and enriches the pathogenic mutation spectrum of CYP27A1.