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Indian Journal of Pediatrics
Published in: Indian Journal of Pediatrics 8/2016

01-08-2016 | Scientific Letter

Aicardi-Goutières Syndrome

Authors: Rashid Merchant, Mitusha Verma, Ami Shah, Shilpa Kulkarni, Anil Jalan

Published in: Indian Journal of Pediatrics | Issue 8/2016

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Excerpt

To the Editor: Aicardi-Goutières syndrome (AGS) is an autosomal recessive, severe, progressive inflammatory disorder presenting in early infancy [1]. We describe the clinical, radiologic and biochemical findings in this syndrome and role of 5-MHTF, biopterin and neopterin as upcoming new markers to aid diagnosis. …
Literature
1.
Aicardi J, Goutieres F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol. 1984;15:49–54.CrossRefPubMed
2.
Uggetti C, La Piana R, Orcesi S, Egitto MG, Crow YJ, Fazzi E. Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up. Am J Neuroradiol. 2009;30:1971–6.CrossRefPubMed
3.
Blau N, Bonafé L, Krägeloh-Mann I, et al. Cerebrospinal fluid pterins and folates in Aicardi-Goutieres syndrome: a new phenotype. Neurology. 2003;61:642–7.CrossRefPubMed
4.
Lebon P, Meritet JF, Kirvine A, Rosenberg F. Interferon and Aicardi Goutieres syndrome. Eur J Paediatr Neurol. 2002;6:47–86.CrossRef
5.
Metadata
Title
Aicardi-Goutières Syndrome
Authors
Rashid Merchant
Mitusha Verma
Ami Shah
Shilpa Kulkarni
Anil Jalan
Publication date
01-08-2016
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 8/2016
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-016-2104-4

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