Phelan-McDermid syndrome: a case report and review of the literature

Abstract

Background: Phelan-McDermid syndrome (PMS) is a rare genetic condition caused by a heterozygous deletion in the 22 chromosome at 22q13 region or by a heterozygous pathogenic variant in SHANK3 gene. PMS is one of the important etiologies in children presenting mainly with intellectual delay, epilepsy or autism spectrum disorder. Case presentation: We describe a case of a 9-year-old male with a non-specific neurodevelopmental disorder characterized by early signs of autism noticed from the age of 2 years. During his infancy, the patient exhibited slow gain of his milestones. He was later diagnosed with PMS, speech and intellectual disability. Conclusion: This study presented a novel case of a patient diagnosed with PMS in Saudi Arabia. Therefore, highlighting the clinical findings is essential to establish a common understanding of the disease. Patient education and awareness is a major part of management plan since many families might require further explanation as they might require to deliver a special education to their children affected by the syndrome. PMS is gaining great interest in research and patient awareness.

Clinical description and evaluation of 30 pediatric patients with ultra-rare diseases: A multicenter study with real-world data from Saudi Arabia

“…These disruptions can manifest as neurological symptoms, such as hemiplegia, dystonia, and parkinsonism [ 42 ]. Moving forward to SHANK3 which is a postsynaptic scaffolding protein involved in the organization and function of synapses [ 43 ], a mutation in SHANK3 have been primarily associated with Phelan-McDermid syndrome, similarly in our patient, the syndrome is characterized with a neurodevelopmental disorder characterized by intellectual disability, autism spectrum disorder, and seizures [ 44 ]. The sequel is due to a structure and function of the SHANK3 protein, leading to synaptic dysfunction and altered neuronal circuits [ 43 ].…”