Neuroimaging findings in children with paediatric neurotransmitter diseases.
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.
Lee
Wang-Tso
WT
Department of Pediatrics, National Taiwan University Hospital, 7, Chung-Shan South Road, Taipei 100, Taiwan. leeped@hotmail.com
Weng
Wen-Chin
WC
Peng
Shinn-Forng
SF
Tzen
Kai-Yuan
KY
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
D018377:Neurotransmitter Agents; D000429:Alcohol Oxidoreductases; C022630:sepiapterin reductase; D014446:Tyrosine 3-Monooxygenase; D050644:Succinate-Semialdehyde Dehydrogenase; D001142:Aromatic-L-Amino-Acid Decarboxylases