European Journal of Therapeutics
Case Report

Aicardi-Goutieres syndrome: A case report

1.

Division of Pediatric Neurology, Gaziantep University Faculty of Medicine, Gaziantep, Turkey

2.

Division of Neonatology, Gaziantep University Faculty of Medicine, Gaziantep, Turkey

Eur J Ther 2014; 20: 335-337
DOI: 10.5455/GMJ-30-163368
Read: 618 Downloads: 495 Published: 03 September 2019

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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EISSN 2564-7040