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Neuroimaging findings in children with paediatric neurotransmitter diseases

  • Symposium on Neurotransmitter Disorders
  • Published:
Journal of Inherited Metabolic Disease

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.

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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

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Acknowledgements

The symposium was supported in part by R13 NS 60363 from the NIH NINDS and Office of Rare Diseases (ORD), and the Johns Hopkins University School of Medicine.

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Authors and Affiliations

  1. Department of Pediatrics, National Taiwan University Hospital, 7, Chung-Shan South Road, Taipei, 100, Taiwan

    Wang-Tso Lee & Wen-Chin Weng

  2. Department of Medical Imaging, National Taiwan University Hospital, Taipei, 100, Taiwan

    Shinn-Forng Peng

  3. Department of Nuclear Medicine, National Taiwan University Hospital, Taipei, 100, Taiwan

    Kai-Yuan Tzen

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  1. Wang-Tso Lee
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  2. Wen-Chin Weng
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  3. Shinn-Forng Peng
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  4. Kai-Yuan Tzen
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Correspondence to Wang-Tso Lee.

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Communicating editor: Michael Gibson

Competing interests: None declared

Presented at the 2nd Pediatric Neurotransmitter Disease (PND) Association Symposium, “Medical Management of Pediatric Neurotransmitter Disorders: A Multidisciplinary Approach”, 18–19 July, 2008, Hyatt Dulles Hotel, Herndon, VA, USA.

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Lee, WT., Weng, WC., Peng, SF. et al. Neuroimaging findings in children with paediatric neurotransmitter diseases. J Inherit Metab Dis 32, 361–370 (2009). https://doi.org/10.1007/s10545-009-1106-z

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  • DOI: https://doi.org/10.1007/s10545-009-1106-z

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