Case Report of International Journal of Case Reports
Deletion of 15q26.1 region with absence epilepsy respond to valproic acid: A Literature Overview and A Case Report from Qatar
Rana AL-Shami , Sondos Altaraqji
Pediatric neurology department, Sidra Medicine, Doha –Qatar.
Chromosomal abnormalities involving deletions and duplications are known to cause severe developmental disorders, including mental retardation, dysmorphism, and seizures, in children. As the technique of array-based comparative genomic hybridization is being applied more frequently in the diagnostic evaluation of children with developmental disorders; novel pathologic chromosomal abnormalities are being identified in relation to various type of epilepsies in childhood.
We report the case of a 4-year-old girl with a history of speech delay and communication disorder, mild dysmorphic features, and absence epilepsy with a de novo microdeletion 15q26.1. A much larger (5 Mb) but overlapping microdeletion has been previously reported in similar several cases with similar phenotype including intractable myoclonic and absence epilepsy, growth delay, and dysmorphic features. This leads us to propose that a potential candidate gene or genes within the deleted region involved in the pathogenesis of some forms of generalized intractable epilepsy, previously considered idiopathic should consider genetic study for childhood epilepsies especially if it was associated with underlying developmental delay in any particular aspect as speech delay in our case.
Keywords: epilepsy/seizures, Chromosomes
How to cite this article:
Rana AL-Shami, Sondos Altaraqji Deletion of 15q26.1 region with absence epilepsy respond to valproic acid: A Literature Overview and A Case Report from Qatar. International Journal of Case Reports, 2021 5:210. DOI: 10.28933/ijcr-2021-03-3005
1. Willem MA Verhoeven,1,2 Jos IM Egger,1,3,4 Alida C Knegt,5 José Zuydam,6 and Tjitske Kleefstra7, Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1–q26.2, Neuropsychiatr Dis Treat. 2016; 12: 1135–1139.
2. Klaassens M, Galjaard RJ, Scott DA, et al. Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature. Am J Med Genet. 2007;143A:2201–2212. [PubMed] [Google Scholar).
3. Veredice C, Bianco F, Contaldo I, et al. Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case. Epilepsia. 2009;50:1810–1815. [PubMed] [Google Scholar]
4. . Dhamija R, Breningstall G, Wong-Kisiel L, Dolan M, Hirsch B, Wirrell E. Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy. Pediatr Neurol. 2011;45:60–62. [PubMed] [Google Scholar]
5. Capelli LP, Krepischi ACV, Gurgel-Giannetti J, et al. Deletion of the RMGA and CDH2 genes in a child with epilepsy and mental deficiency. Eur J Med Genet. 2012;55:132–134. [PubMed] [Google Scholar]
6. Carvill GL, Heavin SB, Yendle SC, et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutation in CHD2 and SYNGAP1. Nat Genet. 2013;45:825–830. [PMC free article] [PubMed] [Google Scholar].