脑腱黄瘤病的临床特征分析

Clinical features of cerbrotendinous xanthomatosis

目的分析脑腱黄瘤病(CTX)患者的临床特点,提高医务工作者对该病的认识。方法收集首都医科大学宣武医院神经内科于2018年3月收治的2例CTX患者的临床资料,回顾性分析其临床表现、影像学特征、组织病理学及基因检测结果。结果(1)患者1表现为典型的神经系统症状:双下肢无力、锥体束和锥体外系损害、认知障碍、共济失调等;非神经系统症状有白内障、弓形足、跟腱肿物;头颅MRI检查示小脑齿状核对称性异常信号,T1WI上为低信号,T2WI、FLAIR上为稍高、低信号;跟腱活检示纤维结缔组织,其内可见多灶黄瘤细胞及多核巨细胞聚集,伴多量胆固醇结晶形成。(2)患者2表现为小脑性共济失调,反复癫痫发作,有精神运动发育迟滞,先天性白内障,基因检测显示固醇-27-羟化酶(CYP27A1)基因存在c.373-379delCCAGTAC杂合突变和c.1420C>T杂合突变。结论CTX临床表现多样,早期影像学检查缺乏特异性,易被误诊误治,可通过组织病理、CYP27A1基因检测明确诊断。

Objective To analyze the clinical manifestations, imaging features, histopathology and genes of cerebrotendinous xanthomatosis (CTX) to improve the understanding of clinical workers on the disease. Methods The imaging examination, histopathological and gene detection methods were synthetically applied, and the disease characteristics of two patients with CTX, admitted to our hospital in March 2018, were analyzed. Results (1) Patient one was a 52-year-old male, with typical neurological symptoms: weakness of both lower limbs, damage of pyramidal tract and extrapyramidal system, cognitive impairment, and ataxia;non-neurological symptoms included cataract, arch foot, and Achilles tendon mass;cranial MR imaging indicated symmetrical abnormal signal of cerebellar dentate nucleus, low signal on T1WI, and slightly high and low signal intensity on T2WI/FLAIR;achilles tendon biopsy showed fibrous connective tissues with multiple xanthoma cells and multinucleated giant cells aggregation, accompanied by cholesterol crystallization.(2) Another 16-year-old male presented with cerebellar ataxia, recurrent seizures, mental and motor retardation, and congenital cataract;two heterozygous mutations of CYP27A1 gene were detected by gene detection;and the mutations were c.373-379 delCCAGTAC and c.1420C>T. Conclusion The clinical manifestations of CTX are varied;early imaging examination lacks specificity;it can be clearly diagnosed by histopathology and CYP27A1 gene detection.