Potocki-Lupski Syndrome in Ethiopian Child: A Case Report.

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.