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本文报告一例脆性X综合征合并脊髓髓质及马尾的恶性神经节神经胶质瘤的罕见病例。患者男性,17岁,6个月前其养母发现他步态不灵活,后来发展为右脚垂足日渐恶化。入院前3周腰椎CT正常,拒绝行脊髓X线造影照片。其后步态越来越不灵便,并出现右腿疼痛,进而大小便失禁。既往智力低下,体格健壮。检查身高156cm,头围57cm。面部长而窄,大耳朵。测量睾丸容积约25ml。背部有-2×0.6cm咖啡牛乳色斑。神经系检查发现右腿肌肉萎缩,肌张力低
This article reports a rare case of fragile X syndrome with spinal medulla and cauda equina malignant ganglion glioma. The male patient, aged 17 and 6 months ago, found that his adopted mother had inflexible gait, and later developed his right foot to deteriorate. 3 weeks before admission, the CT of the lumbar spine was normal, and spinal cord X-ray radiography was refused. Then the gait became less and less flexible, and there was pain in the right leg, which led to incontinence. The former has low intelligence and is physically strong. Check height 156cm, head circumference 57cm. Face minister is narrow and big ears. Measure about 25 ml of testicular volume. There are -2 x 0.6cm coffee milk spots on the back. Neurological examination revealed muscle atrophy of the right leg and low muscle tone