Two new cases of brazilian boys presenting a Rett-like phenotype due to FOXG1: case report and literature review

Abstract

Rett syndrome (RTT) is a rare neurodevelopmental disorder usually affecting females. Most typical forms of RTT patients are hemizygous for pathogenic variants in MECP2. FOXG1 syndrome is a rare and severe neurodevelopmental disorder with a broad spectrum of clinical features which could be described as RTT-like. In this paper we describe two non related patients who presented with developmental delay, microcephaly and hyperkinetic movements. One of them had epilepsy. Diagnosis was made by exome analysis and highlights an uncommon differential diagnosis in developmental delay in children.