Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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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
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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.

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References

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