PDF(Pubmed)
Abstract：
BACKGROUND: Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare inherited metabolic disease caused by the mutation in the CYP27A1 gene. Spinal CTX is a rare clinical subgroup of CTX which lacks typical symptoms seen in classical CTX. Here we report a spinal CTX case revealed double mutation of CYP27A1 gene.
METHODS: A 42-year-old Asian man visited our hospital with spastic gait started at 35. Physical examination showed bilateral masses on his Achilles tendons and were identified as xanthoma on ankle magnetic resonance imaging (MRI). Brain and spinal cord MRI revealed high signal lesions in bilateral cerebellar dentate nuclei and long tract lesions involving lateral corticospinal and gracile tracts. Gene analysis revealed double heterozygous mutation, c.223C > T (p. Gln75Ter) and c.1214G > A (p. Arg405Gln).
CONCLUSIONS: We believe that novel mutation detected in our case might have a role in the pathomechanism in CTX. Moreover, spinal CTX should be considered in the patients only presenting with pyramidal symptoms, as CTX shows good prognosis in early treatment with chenodeoxycholic acid.
METHODS: A 42-year-old Asian man visited our hospital with spastic gait started at 35. Physical examination showed bilateral masses on his Achilles tendons and were identified as xanthoma on ankle magnetic resonance imaging (MRI). Brain and spinal cord MRI revealed high signal lesions in bilateral cerebellar dentate nuclei and long tract lesions involving lateral corticospinal and gracile tracts. Gene analysis revealed double heterozygous mutation, c.223C > T (p. Gln75Ter) and c.1214G > A (p. Arg405Gln).
CONCLUSIONS: We believe that novel mutation detected in our case might have a role in the pathomechanism in CTX. Moreover, spinal CTX should be considered in the patients only presenting with pyramidal symptoms, as CTX shows good prognosis in early treatment with chenodeoxycholic acid.
摘要：
背景：脑性黄瘤病（CTX，OMIM#213700)是一种罕见的由CYP27A1基因突变惹起的遗传性代谢病。脊髓CTX是CTX的罕见临床亚组，缺乏经典CTX中的典型症状。在这里，我们报告了一例脊髓CTX病例，发现CYP27A1基因双重突变。
方法：一名42岁的亚裔男子在35岁时开始出现痉挛步态来我院就诊。体格检查显示他的跟腱有双侧肿块，并在踝关节磁共振成像（MRI）上被确定为黄色瘤。脑和脊髓MRI显示双侧小脑齿状核的高信号病变和涉及皮质脊髓外侧和粗束的长束病变。基因分析显示双杂合子突变，c.223C>T（p。Gln75Ter）和c.1214G>A（p。Arg405Gln）。
结论：我们认为在我们的病例中检测到的新突变可能在CTX的病理机制中起作用。此外，脊髓CTX应该在仅出现锥体束症状的患者中考虑，因为CTX在鹅去氧胆酸早期治疗中显示良好的预后。
方法：一名42岁的亚裔男子在35岁时开始出现痉挛步态来我院就诊。体格检查显示他的跟腱有双侧肿块，并在踝关节磁共振成像（MRI）上被确定为黄色瘤。脑和脊髓MRI显示双侧小脑齿状核的高信号病变和涉及皮质脊髓外侧和粗束的长束病变。基因分析显示双杂合子突变，c.223C>T（p。Gln75Ter）和c.1214G>A（p。Arg405Gln）。
结论：我们认为在我们的病例中检测到的新突变可能在CTX的病理机制中起作用。此外，脊髓CTX应该在仅出现锥体束症状的患者中考虑，因为CTX在鹅去氧胆酸早期治疗中显示良好的预后。
