Hepatic Adenomatosis in Aicardi Syndrome: a Clinical Report and Review of the Literature

Abstract

Jean Aicardi in 1965 described a syndrome of spasms in flexion, callosal agenesis, and ocular abnormalities [1]. In the following years, other findings were identified, in particular porencephalia, facial asymmetry, and vertebral dysplasia [2]. Aicardi syndrome (AS) is an X-linked dominant genetic disorder, observed almost exclusively in female patients, being lethal in males; rare XXY male cases have been described [3]. Extensive genetic studies have been performed but the mutation has not yet been identified [4]. Some reports describe rare neoplasms complicating with AS [5, 6]; here, we report the case of a young AS woman developing multiple giant liver adenomas.