TY  - JOUR
TI  - Clinical and neuroradiologic variability of Aicardi-Goutiéres syndrome: Two siblings with RNASEH2C mutation and a boy with TREX1 mutation
AB  - Uyur-Yalçın E, Maraş-Genç H, Kara B. Clinical and neuroradiologic variability of Aicardi-Goutiéres syndrome: Two siblings with RNASEH2C mutation and a boy with TREX1 mutation. Turk J Pediatr 2015; 57: 504-508.Aicardi-Goutières syndrome (AGS) is a rare, autosomal recessively inherited, immune-mediated neurodevelopmental disorder. The syndrome causes infantileonset progressive encephalopathy characterized by the neuroradiologic features of basal ganglia and periventricular white matter calcification, leucodystrophy and cerebral atrophy. Lymphocytosis and elevated levels of interferon alpha (IFN-alpha) in the cerebrospinal fluid are supplementary findings of AGS. It is frequently misdiagnosed as sequelae of congenital infection (pseudo-TORCH) and mostly recognized later. We describe three AGS cases with different clinical presentation, two male siblings with RNASEH2C mutation and a boy with TREX1 mutation. These cases highlight the importance of considering AGS in the differential diagnosis of unexplained leukoencephalopathy and developmental delay. We suggest to search for intracranial calcification, especially if there are more than one affected cases in a family.
AU  - UYUR-YALÇIN, Emek
AU  - KARA, Bülent
AU  - Maraş Genç, Hülya
PY  - 2015
JO  - Turkish Journal of Pediatrics
VL  - 57
IS  - 5
SN  - 0041-4301
SP  - 504
EP  - 508
DB  - TRDizin
UR  - http://search/yayin/detay/231322
ER  -