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.
Miller CK. Updates on pediatric feeding and swallowing problems. Curr Opin Otolaryngol Head Neck Surg 2009; 17: 194-9.
Boyd KL, Sheldon SH. Sleep disorder breathing: A dental perspective. In: Sheldon SH, Ferber R, Kryger MH, Gozal D, Editors. Principles and practice of pediatric sleep medicine. Philadelphia, PA: Elsevier Saunders; 2014.
Mucha BE, Hennekam RC, Sisodiya S, et al. GeneReviews®. In: Adam MP, Ardinger HH, Pagon RA, et al, Editors. TBC1D24-related disorders. Seattle, WA: University of Washington; 1993.
Poulat AL, Ville D, de Bellescize J, et al. Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. Epilepsy Res 2015; 111: 72-7.
Guven A, Tolun A. TBC1D24 truncating mutation resulting in severe neurodegeneration. J Med Genet 2013; 50: 199-202.
Afawi Z, Mandelstam S, Korczyn AD, et al. TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation. Epilepsy Res 2013; 105: 240-4.
Balestrini S, Milh M, Castiglioni C, et al. TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. Neurology 2016; 87: 77-85.
Banuelos E, Ramsey K, Belnap N, et al. Case report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability. F1000Res 2017; 6: 553.
| Files | ||
| Issue | Vol 2 No 3-4 (2017): Summer-Autumn | |
| Section | Case Report(s) | |
| Keywords | ||
| Muscle Hypotonia Seizures Polysomnography | ||
| Rights and permissions | |
|
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
