Tonduti Davide, Zorzi Giovanna, Ghezzi Daniele, Zibordi Federica, Garavaglia Barbara, Nardocci Nardo
Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS, Milan, Italy Child Neuropsychiatry Unit, Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS, Milan, Italy.
J Child Neurol. 2015 Nov;30(13):1800-5. doi: 10.1177/0883073815581608. Epub 2015 Apr 23.
Abnormal concentrations of dopamine and serotonin metabolites in the cerebrospinal fluid is the diagnostic hallmark of a group of treatable conditions known as the monoamine neurotransmitter disorders. We assessed cerebrospinal fluid dopamine and serotonin metabolite concentrations in a series of 69 patients affected by movement disorders of unknown etiology. Abnormal results were disclosed in 13/69 subjects (19%). Both primary and secondary monoamine neurotransmitter disorders were observed. The clinical presentation of both forms was hypokinetic-rigid syndrome or dystonia. L-Dopa treatment resulted in significant improvement of the clinical picture in the majority of primary neurotransmitter disorders. Eight patients presented a secondary neurotransmitter disorder. One suffered from a GM2 gangliosidosis and one from infantile bilateral striatal necrosis. Etiologic diagnoses were not established in the others. L-Dopa was started in four patients, leading to a significant improvement of hypokinesia in the patient suffering from GM2 gangliosidosis and a slight improvement in 3 unclassified patients.
脑脊液中多巴胺和血清素代谢物浓度异常是一组可治疗病症的诊断标志，这些病症被称为单胺神经递质紊乱。我们评估了69例病因不明的运动障碍患者脑脊液中多巴胺和血清素代谢物的浓度。13/69名受试者（19%）出现异常结果。原发性和继发性单胺神经递质紊乱均有观察到。两种形式的临床表现均为运动减少-强直综合征或肌张力障碍。左旋多巴治疗使大多数原发性神经递质紊乱患者的临床症状得到显著改善。8例患者出现继发性神经递质紊乱。1例患有GM2神经节苷脂沉积症，1例患有婴儿双侧纹状体坏死。其他患者未明确病因诊断。4例患者开始使用左旋多巴治疗，其中患有GM2神经节苷脂沉积症的患者运动减少症状得到显著改善，3例未分类患者症状略有改善。
