第114例hallervorden–spatzdisease.doc

第114例： Hallervorden–Spatz disease Liusuifeng战友： A 8-year-old boy presented with a 2 year history of abnormal flexor posturing of the right hand and wrist with clenching of the fist. Over 6 months it became fixed and persistent and also involved the left hand. Subsequently, he developed extension of the neck and flexion of the trunk, with grimacing of the face, tight closure of the mouth and deterioration of speech and walking. He was the product of a non-consanguineous marriage and was born at full term. The labor was prolonged. His developmental milestones were delayed and speech was slurred with inability to speak difficult words. He was mentally retarded with poor scholastic performance and was sent to a school for mentally challenged children. No other family members had similar or other movement disorders. With levodopa with carbidopa he had a mild improvement. Later baclofen and trihexyphenadyl were added. He continued to worsen progressively. On examination, he was bedridden with generalized dystonia, fixed contractures of the lower limbs and was incontinent. There was no evidence of Kayser-Fleischer ring More Details or retinitis pigmentosa. Serum ferritin, ceruloplasmin levels were normal and blood smear was negative for acanthocytes. Brain commuter tomography and MRI (low field strength) done 2 years back were normal. Repeat MRI showed hypointensity with an area of central hyperintensity in both globus pallidi on T2 weighted imaging [Figure - 1]. 大致翻译 仅供参考 一个8岁的孩子有两年病史了 开始是右手和手腕握紧拳头时出现屈曲姿势 在6个月后这种现象变成持久性的了 左手也出现症状 随后出现脖子和躯干的弯曲 并出现扮鬼脸 口唇紧闭 语言和步态的变化 他不是近亲结婚 足月产 分娩时间延长 他发育延迟 说话含糊不清 不能说复杂的词语 他反应迟钝 学习成绩差 被送去特殊的学校 其他家庭成员没有相似或其他症状 用了美多巴 症状轻度改善 后来加用了巴氯酚 病情持续恶化 体格检查 他卧床不起 有肌张力障碍 下肢挛缩和尿失禁 没有k-f环和视网膜炎 血铁蛋白 铜蓝蛋白正常 血涂片没有见到棘红细胞 两年后脑ct及mri正常 复查mri是双侧苍白球t2上有中心高密度周围低密度区 a7662888战友： The clinical symptoms showed progressive generlaized dystonia with childhood onset. The most most common causes were idiopathic generalized dystonia (DYT1), Do