Jan Mohammed M S
Department of Pediatrics, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia.
Pediatr Neurol. 2004 Oct;31(4):298-303. doi: 10.1016/j.pediatrneurol.2004.03.017.
Dystonia is a state of continuous contraction of groups of agonist and antagonist muscles resulting in a sustained abnormal posture. Dopa-responsive dystonia was first described in 1976 by Segawa. Patients typically have diurnal variation of their symptoms with worsening at the end of the day and a dramatic response to low-dose L-dopa. This report presents five consecutive children with dopa-responsive dystonia who were misdiagnosed initially as spastic diplegic cerebral palsy, intractable epilepsy, hereditary spastic paraplegia, or a neurodegenerative disorder. There were two males and three females aged 3-13 years (mean 8.6 years). They were monitored for up to 2 years (mean 14.8 months). One had focal, one axial, one segmental, and two generalized dystonia. The dystonia was paroxysmal in two (tiptoe walking and opisthotonus), and all had a progressive course. All children responded dramatically to L-dopa (mean 200 mg/day), including three who were wheelchair-bound for several years. The difficulties in early diagnosis, variability of clinical presentation, and dramatic response to L-dopa will be illustrated. To conclude, dopa-responsive dystonia should be considered in any child who presents with paroxysmal or progressive hypertonia of unknown etiology, because it responds so dramatically to L-dopa.
肌张力障碍是一种主动肌和拮抗肌群持续收缩的状态，导致持续的异常姿势。多巴反应性肌张力障碍于1976年由濑川首次描述。患者的症状通常有日变化，在一天结束时加重，且对低剂量左旋多巴有显著反应。本报告介绍了连续5例多巴反应性肌张力障碍儿童，他们最初被误诊为痉挛性双侧瘫脑瘫、难治性癫痫、遗传性痉挛性截瘫或神经退行性疾病。有2名男性和3名女性，年龄3至13岁（平均8.6岁）。他们被监测长达2年（平均14.8个月）。1例为局灶性，1例为轴性，1例为节段性，2例为全身性肌张力障碍。2例肌张力障碍为阵发性（踮足行走和角弓反张），所有病例均呈进行性病程。所有儿童对左旋多巴（平均每日200毫克）均有显著反应，其中3例已坐轮椅数年。将说明早期诊断的困难、临床表现的变异性以及对左旋多巴的显著反应。总之，对于任何出现病因不明的阵发性或进行性张力亢进的儿童，均应考虑多巴反应性肌张力障碍，因为其对左旋多巴反应显著。
