AicardiGoutieres - A close mimick of congenital infection: Case series with 3 children and 4 families

AicardiGoutieres(AGs) is an autosomal recessive encephalopathy caused by mutation in any one of the six genes - TREX1,RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, or ADAR. This is characterized by microcephaly, cranial calcification , white matter changes ,chronic CSF leucocytosis ,increased levels of interferon alpha in the CSF. AGS is associated with extreme irritability , sterile pyrexias and chilblain lesions. The infantile form of this disease presents like congenital intrauterine infection so it is very important to clearly differentiate between the two entities.  We report three children in whom we could diagnose AicardiGoutieres by the characteristic clinical and radiological findings and subsequent molecular confirmation. In the fourth family using the characteristic  radiological finding alone  Aicardigoutieres was suspected and molecular confirmation was also done. .Neuro imaging in all patients showed characteristic findings -CT Brain showed extensive calcification in the basal ganglia, periventricular and subcortical areas.MRI brain showed leucodystrophy  with cystic changes in temporal region. In two families prenatal diagnosis was done in subsequent pregnancies

It is very important to keep Aicardi Goutieres Syndrome as one of the differentials when calcifications are present in the basal ganglia and associated with leucodystrophy and cystic changes.This will help families in future pregnancy counseling and recurrence risk prediction