Neuroimaging findings in children with paediatric neurotransmitter diseases

  • Wang-Tso Lee
  • Wen-Chin Weng
  • Shinn-Forng Peng
  • Kai-Yuan Tzen
Symposium on Neurotransmitter Disorders

DOI: 10.1007/s10545-009-1106-z

Cite this article as:
Lee, WT., Weng, WC., Peng, SF. et al. J Inherit Metab Dis (2009) 32: 361. doi:10.1007/s10545-009-1106-z

Summary

Paediatric neurotransmitter diseases consist of a group of inherited neurometabolic diseases in children, and include disorders related to γ-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.

Abbreviations

5-HIAA

5-hydroxyindoleacetic acid

AADC

aromatic l-amino acid decarboxylase

GABA

γ-amino butyric acid

GTPCH I

GTP cyclohydrolase I

HVA

homovanillic acid

MAO

monoamine oxidase

NAA

N-acetylaspartate

PET

positron emission tomography

SPECT

single-photon-emission computed tomography

SR

sepiapterin reductase

SSADH

succinic semialdehyde dehydrogenase

TH

tyrosine hydroxylase

Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • Wang-Tso Lee
    • 1
  • Wen-Chin Weng
    • 1
  • Shinn-Forng Peng
    • 2
  • Kai-Yuan Tzen
    • 3
  1. 1.Department of PediatricsNational Taiwan University HospitalTaipeiTaiwan
  2. 2.Department of Medical ImagingNational Taiwan University HospitalTaipeiTaiwan
  3. 3.Department of Nuclear MedicineNational Taiwan University HospitalTaipeiTaiwan