以精神症状为首次发病的脑腱黄瘤病1例  

A case of cerebrotendinous xanthomatosis with psychiatric symptoms as the initial onset

作　　者：李丹 夏仲[1] Dan Li;Zhong Xia(Diagnosis Center of Sleep Disorder,the Fourth People′s Hospital of Wuhu,Wuhu 241002,China)

机构地区：[1]芜湖市第四人民医院睡眠医学科,芜湖241002

出　　处：《中华精神科杂志》2024年第3期176-178,共3页Chinese Journal of Psychiatry

摘　　要：脑腱黄瘤病(cerebrotendinous xanthomatosis,CTX)是线粒体酶固醇27-羟化酶缺乏所导致的常染色体隐性遗传病,该病较为罕见且起病隐匿,临床表现多样,平均诊断周期长达23年。本例患者为32岁男性,以精神障碍为首次发病症状就诊,治疗过程中步态不稳逐渐明显,经多轮换药治疗效果不佳。患者幼年有慢性腹泻病史,体格检查可见双侧足跟腱结节,神经系统检查示肌张力降低、共济失调,脑磁共振成像、左侧踝关节磁共振成像平扫呈异常信号,基因检测提示CYP27A1序列突变,诊断为CTX,予以鹅去氧胆酸胶囊联合抗精神病药治疗,患者好转出院。本文通过报道此例患者旨在帮助提高精神科临床医师对CTX的甄别能力,为今后临床工作提供经验指导。Cerebrotendinous xanthomatosis(CTX)is an autosomal recessive genetic disease caused by a deficiency of mitochondrial enzyme sterol 27-hydroxylase.It is rare and features concealed onset,diverse clinical manifestations,and an average diagnostic cycle of 23 years.This case is a who presented with psychiatric symptoms as the initial symptoms.During the treatment process,gait instability gradually became apparent,with unsatisfactory treament efficacy after switching several medications.He had a history of chronic diarrhea in his childhood,and physical examination revealed bilateral nodules of the Achilles tendon.Neurological examination showed decreased muscle tone and ataxia.The head MRI and left ankle joint MR plain scan showed abnormal signals.Genetic testing revealed a CYP27A1 sequence mutation,diagnosed as"cerebrotendinous xanthomatosis".The patient was treated with"geese deoxycholic acid capsules"combined with antipsychotic drugs,and was"improved"and discharged.This article reports the clinical data of the patient and reviews relevant literature,aiming to help improve the screening ability of psychiatrists for this disease and provide empirical guidance for subsequent clinical work.

关 键 词：黄瘤病 脑腱性 精神障碍 共济失调 CYP27A1基因 

分 类 号：R742[医药卫生—神经病学与精神病学]