DOI QR코드

DOI QR Code

West syndrome with hyperkinesia and cortical visual impairment: A case report of GRIN1 encephalopathy

  • Choi, Seul A (Department of Pediatrics, Chonnam National University Children's Hospital, Chonnam National University Medical School) ;
  • Kim, Young Ok (Department of Pediatrics, Chonnam National University Children's Hospital, Chonnam National University Medical School)
  • 투고 : 2021.04.07
  • 심사 : 2021.05.14
  • 발행 : 2021.06.30

초록

West syndrome (WS) presenting with infantile spasms, developmental delay, and hypsarrhythmia has genetic etiology in some patients. Movement disorders or visual impairment that share genetic underpinnings with infantile spasms can provide diagnostic clues for specific genetic mutations. Mutations of the GRIN1 gene encoding the glutamate receptor inotropic N-methyl-D-aspartate subunit can result in WS with hyperkinetic movements, cortical visual impairment, autistic features, and bilateral polymicrogyria. An 11-month-old boy with WS showed hyperkinetic movements and visual impairment. Brain magnetic resonance imaging and metabolic investigations revealed no abnormalities. Whole-exome sequencing revealed a novel likely pathogenic variant (c.1561_1563del; p.Asn521del) of GRIN1 (NM_007327.3). The proband was treated with vigabatrin and became seizure-free within one week. Notably, the cortical blindness improved within 3 months and the hyperkinetic movements resolved one year after the proband became seizure-free. To the best of our knowledge, this is the first report of GRIN1 encephalopathy in Koreans.

키워드

과제정보

This research was supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Republic of Korea (grant no. NRF-2017R1D1A3A03000532).

참고문헌

  1. Pavone P, Striano P, Falsaperla R, Pavone L, Ruggieri M. Infantile spasms syndrome, West syndrome and related phenotypes: what we know in 2013. Brain Dev 2014;36:739-51. https://doi.org/10.1016/j.braindev.2013.10.008
  2. Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, et al. Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia 2012;53:1387-98. https://doi.org/10.1111/j.1528-1167.2012.03516.x
  3. Ko A, Youn SE, Kim SH, Lee JS, Kim S, Choi JR, et al. Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy. Epilepsy Res 2018;141:48-55. https://doi.org/10.1016/j.eplepsyres.2018.02.003
  4. Mignot C, Moutard ML, Trouillard O, Gourfinkel-An I, Jacquette A, Arveiler B, et al. STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia 2011;52:1820-7. https://doi.org/10.1111/j.1528-1167.2011.03163.x
  5. Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, et al. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet 2011;88:306-16. https://doi.org/10.1016/j.ajhg.2011.02.001
  6. Ohba C, Shiina M, Tohyama J, Haginoya K, Lerman-Sagie T, Okamoto N, et al. GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. Epilepsia 2015;56:841-8. https://doi.org/10.1111/epi.12987
  7. Lemke JR, Geider K, Helbig KL, Heyne HO, Schutz H, Hentschel J, et al. Delineating the GRIN1 phenotypic spectrum: a distinct genetic NMDA receptor encephalopathy. Neurology 2016;86:2171-8. https://doi.org/10.1212/WNL.0000000000002740
  8. Chen W, Yuan H. GRIN1 mutations in early-onset epileptic encephalopathy. Pediatr Neurol Briefs 2015;29:44. https://doi.org/10.15844/pedneurbriefs-29-6-3
  9. Rossi M, Chatron N, Labalme A, Ville D, Carneiro M, Edery P, et al. Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. Eur J Hum Genet 2017;25:376-80. https://doi.org/10.1038/ejhg.2016.163
  10. Zehavi Y, Mandel H, Zehavi A, Rashid MA, Straussberg R, Jabur B, et al. De novo GRIN1 mutations: an emerging cause of severe early infantile encephalopathy. Eur J Med Genet 2017;60:317-20. https://doi.org/10.1016/j.ejmg.2017.04.001
  11. Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, et al. De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain 2018;141:698-712. https://doi.org/10.1093/brain/awx358
  12. Crino PB. Polymicrogyria and GRIN1 mutations: altered connections, altered excitability. Brain 2018;141:622-3. https://doi.org/10.1093/brain/awy047
  13. Pironti E, Granata F, Cucinotta F, Gagliano A, Efthymiou S, Houlden H, et al. Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study. Epileptic Disord 2018;20:423-7. https://doi.org/10.1684/epd.2018.0992
  14. Tang W, Liu D, Traynelis SF, Yuan H. Positive allosteric modulators that target NMDA receptors rectify loss-of-function GRIN variants associated with neurological and neuropsychiatric disorders. Neuropharmacology 2020;177:108247. https://doi.org/10.1016/j.neuropharm.2020.108247
  15. Intson K, van Eede MC, Islam R, Milenkovic M, Yan Y, Salahpour A, et al. Progressive neuroanatomical changes caused by Grin1 loss-of-function mutation. Neurobiol Dis 2019;132:104527. https://doi.org/10.1016/j.nbd.2019.104527
  16. Bosch DG, Boonstra FN, de Leeuw N, Pfundt R, Nillesen WM, de Ligt J, et al. Novel genetic causes for cerebral visual impairment. Eur J Hum Genet 2016;24:660-5. https://doi.org/10.1038/ejhg.2015.186