Polysomnography Report for a Boy with TBC1D24 Mutation

Abstract

Background and Objective: Advances in molecular genetics technology has improved current understanding of the genetic causes of the rare neurological disorders with hyper-somnolence and seizure. Case Report: An 11-year-old boy with attacks of sleepiness and hypotonicity for about 45 minutes and neurodevelopmental delay was referred to a sleep laboratory for polysomnography to rule out narcolepsy. In genetic analysis, he had mutation in the TBC1D24 gene. This mutation was heterozygous in the pair, and family members were not affected. Conclusion: This report suggests that TBC1D24-related diseases should be considered in differential diagnosis of children with sleep attacks and seizure.

Keywords

• Muscle Hypotonia
• Seizures
• Polysomnography