Aicardi-Goutières syndrome : a genetic syndrome mimicking congenital infection – a description of two new cases

Abstract

Aicardi-Goutières syndrome (AGS) is a progressive encephalopathy, with a recessive autosomal pattern of inheritance that has its onset in the first year of life and is characterized by acquired microcephaly, basal ganglia calcifications, white matter abnormalities, chronic lymphocytosis and raised interferon-alpha in cerebrospinal fluid. Many of these features overlap with those of an intrauterine infection and can therefore lead to the wrong diagnosis. Here we describe two siblings, a brother and a sister, with clinical features initially suggestive of a congenital infection but with negative serological TORCH analysis. Further testing confirmed AGS. AGS is an autosomal recessive syndrome that can mimic congenital infection. It is important to recognize because of the progressive nature of the syndrome and the risk of recurrence in families with affected children.