A rare genetic enigma: insights from the first neonatal Phelan-McDermid syndrome case in the Middle East

Ruqayyah Ali Ahmed; Nada Yasser Metwali; Jumana Hussain Timraz; Mohammad Orfali; Hasan A. Ahmed; Abouelhassan Ahmed

doi:10.18203/2349-3291.ijcp20252615

Authors

Ruqayyah Ali Ahmed Department of General Medicine and Surgery, Batterjee Medical College for Science and Technology, Jeddah, Saudi Arabia
Nada Yasser Metwali Department of General Medicine and Surgery, Batterjee Medical College for Science and Technology, Jeddah, Saudi Arabia
Jumana Hussain Timraz Department of General Medicine and Surgery, Batterjee Medical College for Science and Technology, Jeddah, Saudi Arabia
Mohammad Orfali Department of Pediatrics, Saudi German Hospital, Dubai, United Arab Emirates
Hasan A. Ahmed Department of Medicine and Surgery, Batterjee Medical College for Science and Technology, Jeddah, Saudi Arabia.
Abouelhassan Ahmed Department of Neonatology, Saudi German Hospital, Jeddah, Saudi Arabia

DOI:

https://doi.org/10.18203/2349-3291.ijcp20252615

Keywords:

Phelan-McDermid Syndrome, SHANK3 gene, 22q13 deletion, Neonatal seizure

Abstract

Phelan-McDermid syndrome (PMS), also known as 22q13 deletion syndrome, is a rare genetic disorder characterized by a spectrum of clinical features which include intellectual disability, speech delay, hypotonia, autism spectrum disorder, and seizures. This case report presents the first documented case of diagnosed neonatal PMS in the Middle East, highlighting a newborn male who exhibited respiratory distress, convulsions, hypotonia, and dysmorphic features shortly after birth. Diagnosis was confirmed by performing whole exome sequencing (WES), which revealed a heterozygous deletion in the 22q13 region involving the SHANK3 gene. The case emphasizes the utility of genetic molecular testing in diagnosing such rare syndromes and underscores the role of genetic counseling, specifically in consanguineous families. Increased research and awareness into PMS, particularly in regions with high consanguinity rates such as the Middle East, are essential for improved diagnosis and management.

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