DOI: https://doi.org/10.36347/sjmcr.2024.v12i08.027

Pages: 1465-1467

Myocyte enhancer factor 2C (MEF2C) gene mutation syndrome is an extremely rare neurodevelopmental disorder with only 117 cases are documented in the current literature across the globe. We hereby document the first Libyan case report in a male child on clinical background of a global developmental delay and stereotypic behaviors. The diagnosis was confirmed utilizing Whole Exon Sequencing that showed a heterozygous deletion involving exons 1-2 of the MEF2C gene. Neurological features including global developmental delay, impaired language function, hypotonia, delayed cross motor skills and seizure, are common among affected children. Patients with MEF2C also exhibit several features of Rett Syndrome such as, autism, mannerism and various stereotypic behaviors. That make it difficult to differentiate between the two conditions based on just clinical background.