Li Zhao-Ran, Zhou Yu-Ling, Jin Qi, Xie Yin-Yin, Meng Hong-Mei
Department of Neurology, The First Hospital of Jilin University, Changchun 130000, Jilin Province, China.
World J Clin Cases. 2022 Jun 26;10(18):6168-6174. doi: 10.12998/wjcc.v10.i18.6168.
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disease caused by mutations in . 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.
脑腱黄瘤病（CTX）是一种由基因突变引起的罕见常染色体隐性代谢疾病。其发病率低，起病隐匿，临床表现多样。该病容易被误诊，临床医生可能未识别，导致治疗延误，患者预后变差。
一名38岁男性因姿势不稳和行走困难30多年未缓解入院。随后，根据患者病史、临床症状、磁共振成像和基因测序结果，最终诊断为CTX。由于该病发病率低，临床医生对其了解不足，使得诊断过程更加曲折，延长了诊断时间。
CTX的及时诊断和治疗可改善患者预后。
