Pediatrics & Therapeutics
Open Access

Case report: Novel genotype of SLC18A2 for related infantile onset parkinsonism-dystonia in the city of Abu Dhabi , UAE

Joint Event on 17^th World Congress on General Pediatrics & Adolescent Medicine & 24^th Annual World Congress on Neonatology

February 24, 2025 | Webinar

Khaled Anwar Thabit Ahmed,

Pediatrician at Arab board of pediatrics, UAE

Posters & Accepted Abstracts: Pediatr Ther

Abstract :

Brain monoamine vesicular transport disease is an infantile-onset movement disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2 variant, p. Pro387Leu, was first reported as a cause of this rare disorder, and dopamine agonists were efficient for treating affected individuals from a single large family. The Aim to report newly identified genotype for the SLC18A2 and to review the genetic and clinical features of the affected individual with homozygous SLC18A2 variants c.1122+2T>C and to provide insights into SLC18A2-related disorders and compare between different phenotypes. The affected individuals typically showed global developmental delay, hypotonia, dystonia, oculogyric crisis, and autonomic nervous system involvement (temperature dysregulation/sweating, hypersalivation, and gastrointestinal dysmotility).

Biography :

Dr. Khaled Anwar Thabit Ahmed is a 30-year-old Yemeni pediatrician born and raised in the UAE. He earned his MBBS from the University of Sharjah in 2019 and recently completed his pediatric residency at Sheikh Khalifa Medical City in November 2024. A certified Arab Board of Pediatrics specialist, Dr. Khaled is passionate about children's health and committed to providing exceptional pediatric care.