Lee Wang-Tso, Weng Wen-Chin, Peng Shinn-Forng, Tzen Kai-Yuan
Department of Pediatrics, National Taiwan University Hospital, 7, Chung-Shan South Road, Taipei 100, Taiwan.
J Inherit Metab Dis. 2009 Jun;32(3):361-70. doi: 10.1007/s10545-009-1106-z. Epub 2009 May 20.
Paediatric neurotransmitter diseases consist of a group of inherited neurometabolic diseases in children, and include disorders related to gamma-amino butyric acid (GABA) metabolism, monoamine biosynthesis, etc. The diagnosis of paediatric neurotransmitter diseases remain a great challenge for paediatricians and child neurologists. In addition to clinical manifestations and CSF neurotransmitter measurement, neuroimaging findings can also be very informative for the diagnosis and evaluation of the patients. For patients with monoamine biosynthesis disorders, the functional evaluation of dopaminergic transmission also plays an important role. Understanding of the possible neuroimaging changes in paediatric neurotransmitter diseases is therefore of great value for the investigation of these patients.
儿童神经递质疾病是一组儿童遗传性神经代谢疾病，包括与γ-氨基丁酸（GABA）代谢、单胺生物合成等相关的疾病。儿童神经递质疾病的诊断对儿科医生和儿童神经科医生来说仍然是一个巨大的挑战。除了临床表现和脑脊液神经递质测量外，神经影像学检查结果对患者的诊断和评估也非常有帮助。对于患有单胺生物合成障碍的患者，多巴胺能传递的功能评估也起着重要作用。因此，了解儿童神经递质疾病可能出现的神经影像学变化对这些患者的研究具有重要价值。
