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Rare Case of Aicardi Goutieres Syndrome at TMCH - A Case report

ARAVIND THIRUGNANASAMBANDAM N NATARAJAN

Abstract


Aicardi - Goutiere's syndrome is characterized by encephalopathy, developmental
regression, acquired microcephaly, sterile pyrexia, seizures, chilblain, calcification of basal ganglia in
CTMRI. It comes under a type of Autosomal Recessive Leukodystrophy usually presenting within first
weeks of life and is generally fatal within first few years.


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References


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3. Chahwan C. ; Chahwan R (2012) “ Aicardi – Goutieres

syndrome – from patients to genes and beyond” Clinical Genetics 81 (5) ; 413 – 20.

4. Online Mendelian Inheritance in Man (OMIM) Aicardi –

Goutiere’s syndrome – 225750.


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