Aicardi-Goutieres syndrome: A case report: Aicardi-Goutieres sendromu: Bir olgu sunumu

Aysima Özçelik; Peren Perk; Alper Dai; Şafak  Taviloğlu; Ercan Sivaslı

doi:10.5455/GMJ-30-163368

Authors

Aysima Özçelik Division of Pediatric Neurology, Gaziantep University Faculty of Medicine, Gaziantep, Turkey
Peren Perk Division of Pediatric Neurology, Gaziantep University Faculty of Medicine, Gaziantep, Turkey
Alper Dai Division of Pediatric Neurology, Gaziantep University Faculty of Medicine, Gaziantep, Turkey
Şafak Taviloğlu Division of Neonatology, Gaziantep University Faculty of Medicine, Gaziantep, Turkey
Ercan Sivaslı Division of Neonatology, Gaziantep University Faculty of Medicine, Gaziantep, Turkey

DOI:

https://doi.org/10.5455/GMJ-30-163368

Keywords:

Aicardi- Goutieres Syndrome, calsifications, TORCH infections, newborn

Abstract

Aicardi-Goutieres Syndrome (AGS) is an autosomal ressesive genetic disorder, clinically characterized by microcephaly, cerebral atrophy and white matter abnormalities, intellectual disabilty and motor reterdation, increased cerebrospinal fluid (CSF), lymphocytosis and interferon-alpha (IFN) in blood, intracranial calsification especially at basal ganglia. We should keep in mind Aicardi-Goutieres Syndrome for differential diagnosis while investigating a microcephalic newborn presented with intracrianal calsifications and seizure.

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References

Lanzi G, Fazzi E, D’Arrigo S, Orcesi S, Maraucci I, Uggetti C et al. The natural history of Aicardi–Goutie`res syndrome: follow-up of 11 Italian patients. Neurology 2005;64(9):1621–24.

Goutie`res F. Aicardi-Goutie`res syndrome. Brain Dev 2005;27(3):201–06.

Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M et al. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutie`res syndrome at the AGS1 locus. Nat Genet 2006;38(8):917–20.

Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, et al . Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutie`res syndrome and mimic congenital viral brain infection. Nat Genet 2006;38(8):910– 16.

Crow YJ, Livingston JH. Aicardi-Goutie`res syndrome: an important Mendelian mimic of congenital infection. Dev Med Child Neurol 2008;50(6):410 –16.

Lanzi G, Fazzi E, D’Arrigo S. Aicardi-Goutie`res syndrome: a description of 21 new cases and a comparison with the literature. Eur J Paediatr Neurol 2002; 6(suppl A):A9 –22, discussion A23–5, A77–86

Briggs TA, Abdel-Salam GMH, Balicki M, Baxter P, Bertini E, Bishop N et al. Cerebroretinal microangiopathy with calcification and cysts (CRMCC). Am J Med Genet 2008; 146(2): 182–90.

Crow YJ, Rice GI, Navarro V. SPENCD: another ‘immunoosseous’ dysplasia; normal AGS1-4 sequence in an affected female. British Society of Human Genetics Abstracts. J Med Genet 2007; 44 (1): 50-1.

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(1):49–54

Goutie`res F, Aicardi J, Barth PG, Lebon P. Aicardi–Goutie`res syndrome: an update and results of interferon-alpha studies. Ann Neurol 1998;44(6):900–07

Aicardi J. Aicardi-Goutie`res syndrome: special type earlyonset encephalopathy. Eur J Paediatr Neurol 2002;69(Suppl. A):A1–A7.

D’Arrigo S, Riva D, Bulgheroni S et al. Aicardi–Goutie`res syndrome: description of a late onset case. Dev Med Child Neurol 2008; 50(3): 631–4.