Aicardi-goutieres syndrome: A genetic disorder which mimics congenital intrauterine infection

摘要

Sir,Basal ganglia and cortical calcification is commonly found in children with TORCH infection. Aicardi-Goutieres syndrome (AGS), an autosomal recessive disorder presents with multiple intracranial calcifications and can mimic of a congenital viral infection.111 Mis diagnosis of this condition can result in false counseling of a low risk of recurrence. This report presents two children with AGS confirmed by molecular genetic testing [Table 1].AGS is an early onset encephalopathy associated with severe intellectual and physical handicap. The characteristics of this syndrome are microcephaly, bilateral basal ganglia calcification, cerebral white matter abnormalities, cerebrospinal fluid (CSF) lymphocytosis and elevated levels of CSF interferon.[2] The clinical phenotype of AGS resembles sequelae of congenital infection. Presence of microcephaly, neonatal hepatitis, thrombocytopenia, and normal CSF examination generally favors the diagnosis of intrauterine infection. However, prenatal microcephaly, elevation of liver enzymes, and thrombocytopenia have also been reported in children with AGS,[3] suggesting an overlap between the two. Chilblain lesions on the hands, feet[4] and intermittent sterile pyrexias have been reported and can be clues for the diagnosis of AGS.