title: Neuroimaging findings in children with paediatric neurotransmitter diseases.
abstract: 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.
authors.affiliation: Department of Pediatrics, National Taiwan University Hospital, 7, Chung-Shan South Road, Taipei 100, Taiwan. leeped@hotmail.com
authors.forename: Wang-Tso
authors.initials: WT
authors.lastname: Lee
authors.forename: Wen-Chin
authors.initials: WC
authors.lastname: Weng
authors.forename: Shinn-Forng
authors.initials: SF
authors.lastname: Peng
authors.forename: Kai-Yuan
authors.initials: KY
authors.lastname: Tzen
mesh_terms: D000429:Alcohol Oxidoreductases / Q000172:deficiency / Q000235:genetics; D001142:Aromatic-L-Amino-Acid Decarboxylases / Q000172:deficiency / Q000235:genetics; D001921:Brain / Q000000981:diagnostic imaging*; D020739:Brain Diseases, Metabolic, Inborn / Q000000981:diagnostic imaging*; D002648:Child; D003952:Diagnostic Imaging / Q000379:methods*; D003943:Diagnostic Techniques, Neurological; D006801:Humans; D008954:Models, Biological; D018377:Neurotransmitter Agents / Q000172:deficiency / Q000502:physiology; D011859:Radiography; D050644:Succinate-Semialdehyde Dehydrogenase / Q000172:deficiency / Q000235:genetics; D014446:Tyrosine 3-Monooxygenase / Q000172:deficiency / Q000235:genetics
chemical_list: D018377:Neurotransmitter Agents; D000429:Alcohol Oxidoreductases; C022630:sepiapterin reductase; D014446:Tyrosine 3-Monooxygenase; D050644:Succinate-Semialdehyde Dehydrogenase; D001142:Aromatic-L-Amino-Acid Decarboxylases