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Indian Journal of Pediatrics
Published in: Indian Journal of Pediatrics 8/2020

01-08-2020 | Glaucoma | Scientific Letter

Aicardi-Goutieres Syndrome Presenting with Congenital Glaucoma

Authors: Vykuntaraju K. Gowda, Hemadri Vegda, Sanjay K. Shivappa, Naveen Benakappa

Published in: Indian Journal of Pediatrics | Issue 8/2020

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Excerpt

To the Editor: Aicardi-Goutieres syndrome (AGS) is genetically determined encephalopathy [1]. The main features are progressive encephalopathy, failure to thrive, basal ganglia calcification, leukodystrophy, and cerebrospinal fluid (CSF) lymphocytosis, mimicking TORCH (Toxoplasmosis, Others, Rubella, Cytomegalovirus, Herpes) infections. Here we report a rare phenotype of AGS presenting as congenital glaucoma. …
Literature
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Rice GI, del Toro DY, Jenkinson EM, et al. Gain-of-function mutation in IFIH1 cause a spectrum of human disease phenotype associated with upregulated type 1 interferon signaling. Nat Genet. 2014;46:503–9.CrossRef
2.
Rice GI, Patrick T, Parmar R, et al. Clinical and molecular phenotype of Aicardi Goutieres syndrome. Am J Hum Genet. 2007;81:P713–25.CrossRef
3.
Crow YJ, Chase DS, Schmidt JL, et al. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR and IFIH1. Am J Hum Genet A. 2015;167:296–312.
4.
Crow YJ, Massey RF, Innes JR, et al. Congenital glaucoma and brain stem atrophy as features of Aicardi Goutières syndrome. Am J Med Genet. 2004;129A:303–7.CrossRef
5.
Musalem HM, Dirar QS, Al-Hazzaa SAF, Al Zoba AA, El-Mansoury J, et al. Unusual association of aniridia with Aicardi-Goutieres syndrome-related congenital glaucoma in a tertiary care centre. Am J Case Rep. 2018;19:500–4.CrossRef
Metadata
Title
Aicardi-Goutieres Syndrome Presenting with Congenital Glaucoma
Authors
Vykuntaraju K. Gowda
Hemadri Vegda
Sanjay K. Shivappa
Naveen Benakappa
Publication date
01-08-2020
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 8/2020
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-020-03196-0

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