DOI QR코드

DOI QR Code

Down syndrome with asymptomatic neuroglial cyst: A case report and review of the literature

  • Yang, Seung Do (Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine) ;
  • Lee, Seung Ju (Department of Pediatrics, Soonchunhyang University Cheonan Hospital, Soonchunhyang University College of Medicine) ;
  • Lee, Dong Hwan (Department of Pediatrics, Soonchunhyang University Seoul Hospital, Soonchunhyang University College of Medicine) ;
  • Hong, Yong Hee (Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine)
  • Received : 2017.06.13
  • Accepted : 2017.09.09
  • Published : 2017.12.31

Abstract

Down syndrome (DS, trisomy 21) is associated with neuroanatomical abnormalities, including choroid plexus cysts and various types of brain tumors. Trisomy 21 is associated with oncogenic factor, especially in brain tumor. The brain of DS patients had a smaller volume of gray and white matter and an unbalanced cerebellum volume, indicating a smaller volume overall than normal. We report a case of a DS male patient who had an incidentally discovered neuroglial cyst in left cerebellar vermis. He visited our hospital with gait disturbance and fatigue. But, the neurologic exam was normal. To the best of our knowledge, this is the first reported case of a neuroglial cyst in a trisomy 21 patient. As the developmental mechanisms of a cyst and the choroid plexus are related, more research is needed.

Keywords

References

  1. Haydar TF, Reeves RH. Trisomy 21 and early brain development. Trends Neurosci 2012;35:81-91. https://doi.org/10.1016/j.tins.2011.11.001
  2. Chapman RS, Hesketh LJ. Behavioral phenotype of individuals with Down syndrome. Ment Retard Dev Disabil Res Rev 2000;6:84-95. https://doi.org/10.1002/1098-2779(2000)6:2<84::AID-MRDD2>3.0.CO;2-P
  3. Bonsi AB, Boni RC, Ribeiro LAM, Souza MR. Choroid plexus cysts and their anatomical correlations: importance in fetal prognosis. A critical literature review. Braz J Morphol Sci 2009;26:12-3.
  4. Newberger DS. Down syndrome: prenatal risk assessment and diagnosis. Am Fam Physician 2000;62:825-32, 837-8.
  5. Satge D, Sommelet D, Geneix A, Nishi M, Malet P, Vekemans M. A tumor profile in Down syndrome. Am J Med Genet 1998;78:207-16. https://doi.org/10.1002/(SICI)1096-8628(19980707)78:3<207::AID-AJMG1>3.0.CO;2-M
  6. Moon JS, Lee SY, Nam CM, Choi JM, Choe BK, Seo JW, et al. 2007 Korean National Growth Charts: review of developmental process and an outlook. Korean J Pediatr 2008;51:1-25. https://doi.org/10.3345/kjp.2008.51.1.1
  7. Becker L, Mito T, Takashima S, Onodera K. Growth and development of the brain in Down syndrome. Prog Clin Biol Res 1991;373:133-52.
  8. Wisniewski KE. Down syndrome children often have brain with maturation delay, retardation of growth, and cortical dysgenesis. Am J Med Genet Suppl 1990;7:274-81.
  9. Abraham H, Vincze A, Veszpremi B, Kravjak A, Gomori E, Kovacs GG, et al. Impaired myelination of the human hippocampal formation in Down syndrome. Int J Dev Neurosci 2012;30:147-58. https://doi.org/10.1016/j.ijdevneu.2011.11.005
  10. Bianchi P, Ciani E, Guidi S, Trazzi S, Felice D, Grossi G, et al. Early pharmacotherapy restores neurogenesis and cognitive performance in the Ts65Dn mouse model for Down syndrome. J Neurosci 2010;30:8769-79. https://doi.org/10.1523/JNEUROSCI.0534-10.2010
  11. Stagni F, Emili M, Giacomini A, Guidi S, Ciani E, Bartesaghi R. Neurogenesis in the hippocampal dentate gyrus of a Down syndrome model can be restored by neonatal treatment with an agonist of the BDNF TrkB receptor. ECNP 2016;26:S650-1.
  12. Satge D, Monteil P, Sasco AJ, Vital A, Ohgaki H, Geneix A, et al. Aspects of intracranial and spinal tumors in patients with Down syndrome and report of a rapidly progressing Grade 2 astrocytoma. Cancer 2001;91:1458-66. https://doi.org/10.1002/1097-0142(20010415)91:8<1458::AID-CNCR1153>3.0.CO;2-B
  13. Crome L, Valerie C, Slater E. A statistical note on cerebellar and brainstem weight in mongolism. J Intellect Disabil Res 1966;10:69-72.
  14. Zellweger H. Down syndrome. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology. Amsterdam: North Holland Publishing, 1977;367-469.
  15. Rotmensch S, Luo JS, Nores JA, Dimaio MS, Hobbins JC. Bilateral choroid plexus cysts in trisomy 21. Am J Obstet Gynecol 1992;166:591-2. https://doi.org/10.1016/0002-9378(92)91680-9
  16. Geary M, Patel S, Lamont R. Isolated choroid plexus cysts and association with fetal aneuploidy in an unselected population. Ultrasound Obstet Gynecol 1997;10:171-3. https://doi.org/10.1046/j.1469-0705.1997.10030171.x
  17. Goel A, Weerakkody Y. Choroid plexus cyst (antenatal) [Internet]. Melbourne, AU: Radiopaedia, 2017 [cited 2017 Jul 1]. [https://radiopaedia.org/articles/choroid-plexus-cyst-antenatal-1]
  18. Alami B, Youssef ALM, Addou O, Jaffal M, Sqali N, Boubou M, et al. Spectrum of benign intracranial cystic lesions [Internet]. Wien: European Society of Radiology, 2012 [cited 2017 Jul 1]. [http://posterng.netkey.at/esr/viewing/index.php?module=viewing_poster&doi=10.1594/ecr2012/C-1945]
  19. Osborn AG. Neuroglial cyst. In: Osborn AG, ed. Diagnostic imaging: brain. Salt Lake City, Utah: Amirsys, 2004;7-20.
  20. Hassan J, Sepulveda W, Teixeira J, Cox PM. Glioependymal and arachnoid cysts: unusual causes of early ventriculomegaly in utero. Prenat Diagn 1996;16:729-33. https://doi.org/10.1002/(SICI)1097-0223(199608)16:8<729::AID-PD901>3.0.CO;2-X
  21. Ismail A, Tampieri D, Melanson D, Pokrupa R, Villemure JG, Bertrand G. Glioependymal cysts: CT and MR findings. J Comput Assist Tomogr 1992;16:860-4. https://doi.org/10.1097/00004728-199211000-00005
  22. Osborn AG. Diagnostic neuroradiology. St. Louis: Mosby-Year Book, Inc.,1994. p. 626-65.
  23. Frazier J, Garonzik I, Tihan T, Olivi A. Recurrent glioependymal cyst of the posterior fossa: an unusual entity containing mixed glial elements. Case report. J Neurooncol 2004;68:13-7. https://doi.org/10.1023/B:NEON.0000024660.91021.2a
  24. Park K, Jung HW, Cho BK, Sim BS, Chi JG. Glioependymal cyst: a case report. J Korean Neurosurg Soc 1984;13:301-4.
  25. Barth PG. Ependymal cysts [Internet]. San Diego, CA: Medlink neurology; 1999 Mar 23 [updated 2016 Jul 4; cited 2017 Jul 1] [http://www.medlink.com/article/ependymal_cysts#Park_2012]
  26. Eyselbergs M, Vanhoenacker FM, De Cuyper K, Kools D. Epileptic seizure due to neuroglial cyst. JBR-BTR 2012;95:142-3.
  27. Zheng SP, Ju Y, You C. Glioependymal cyst in children: a case report. Clin Neurol Neurosurg 2013;115:2288-90. https://doi.org/10.1016/j.clineuro.2013.07.036