Abstract

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

Highlights

  • Jean Aicardi in 1965 described a syndrome of spasms in flexion, callosal agenesis and ocular abnormalities [1]

  • Aicardi Syndrome is a rare X-linked dominant genetic disorder characterized by callosal agenesis, generalized seizures, chorioretinal lacunae and vertebral anomalies

  • We describe the case of a 19-year-old woman with Aicardi Syndrome developing multiple giant mass lesions in the liver

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Summary

Introduction

Jean Aicardi in 1965 described a syndrome of spasms in flexion, callosal agenesis and ocular abnormalities [1]. Aicardi Syndrome is a rare X-linked dominant genetic disorder characterized by callosal agenesis, generalized seizures, chorioretinal lacunae and vertebral anomalies. Uncommon neoplasms have been previously observed in affected patients.

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