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 chromosome 22 in the 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 nonspecific neurodevelopmental disorder characterized by early signs of autism noticed from the age of 2 years. During his infancy, the patient exhibited slow gains of his milestones. He was later diagnosed with PMS and 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 the management plan since many families might require further explanation as they might need to deliver special education to their children affected by the syndrome. PMS is gaining great interest in research and patient awareness. [JBCGenetics 2022; 5(2.000): 053-058]

Keywords

• shank3
• autism
• pediatrics
• seizures
• chromosomal abnormality
• congenital anomaly