Potocki-Lupski Syndrome in Ethiopian Child: A Case Report

Abstract

Background: Potocki-Lupski syndrome (PTLS) is a rare developmental disorder resulting from the partial duplication of the short arm of chromosome 17. Affected children may have hypotonia, facial dysmorphism, or neurological abnormalities. Case Presentation: We present the case of a 5-year-old female patient from Ethiopia diagnosed with Potocki-Lupski syndrome (PTLS)(17p11.2 microduplication) through multiplex ligation-dependent probe amplification (MLPA) testing. This technique identified the duplication of regions of the 17p11.2 chromosome (RAI1, DRC3, USP22, COPS3 and LLGL1). The patient exhibited neurological manifestations including speech delay and mild intellectual disability, along with craniofacial dysmorphism characterized by a triangular face, wide forehead, dental malocclusion, and micrognathia. Conclusion:A multidisciplinary team approach is imperative for managing patients with PTLS. Parental counseling and genetic advice are crucial for families with children affected by PTLS.