Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders.
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.
['Tonduti|Davide|D|', 'Zorzi|Giovanna|G|', 'Ghezzi|Daniele|D|', 'Zibordi|Federica|F|', 'Garavaglia|Barbara|B|', 'Nardocci|Nardo|N|']
D000293:Adolescent D018726:Anti-Dyskinesia Agents D002648:Child D002675:Child, Preschool D005260:Female D006801:Humans D007223:Infant D007231:Infant, Newborn D007980:Levodopa D008297:Male D009069:Movement Disorders D018377:Neurotransmitter Agents D055815:Young Adult
movement disorders neurotransmitter disorders hypokinetic-rigid syndrome dystonia