酪氨酸羟化酶缺乏症致多巴反应性肌张力障碍1例报告和文献复习

Tyrosine hydroxylase deficiency induced dopa-responsive dystonia:a case report and literature review

酪氨酸羟化酶缺乏症致多巴反应性肌张力障碍是一种可治疗的神经代谢疾病,临床中比较罕见。现报告1例酪氨酸羟化酶缺乏症致多巴反应性肌张力障碍患者并复习相关文献,探讨酪氨酸羟化酶缺乏症致多巴反应性肌张力障碍的发病机制、临床表现及诊断治疗,最后得出外周血清泌乳素可能是酪氨酸羟化酶缺乏症的生物标记物,临床怀疑酪氨酸羟化酶缺乏症的患者进行基因检测可能是确诊的唯一途径,尽早识别确诊和左旋多巴治疗,可能会明显改善预后。

Tyrosine hydroxylase deficiency induced dopa-responsive dystonia is a treatable neurometabolic disease,which is relatively rare in clinic.In this paper,we present a case of dopa-responsive dystonia caused by tyrosine hydroxylase deficiency and reviewed relevant literature to investigate the pathogenesis,clinical manifestations,diagnosis and treatment of dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.Finally,we concluded that peripheral blood prolactin may be a biomarker of tyrosine hydroxylase deficiency,Genetic testing in patients with clinically suspected tyrosine hydroxylase deficiency may be the only way to confirm the diagnosis,and early identification of the diagnosis and levodopa treatment may significantly improve the prognosis.