Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
권호 표지
DOI QR코드

DOI QR Code

Pediatric tetrasomy 18p presenting as a spastic cerebral palsy: A case report

  • Lim, Ikhyun (Department of Rehabilitation Medicine, CHA Bundang Medical Center, CHA University School of Medicine) ;
  • Park, Sang Hee (Genetics Laboratory, Fertility Center Gangnam, CHA University) ;
  • Suh, Mi Ri (Department of Rehabilitation Medicine, CHA Bundang Medical Center, CHA University School of Medicine) ;
  • Kwak, Hyunseok (Department of Rehabilitation Medicine, CHA Bundang Medical Center, CHA University School of Medicine) ;
  • Park, Wookyung (Department of Rehabilitation Medicine, CHA Bundang Medical Center, CHA University School of Medicine) ;
  • Shim, Sung Han (Genetics Laboratory, Fertility Center Gangnam, CHA University) ;
  • Kim, MinYoung (Department of Rehabilitation Medicine, CHA Bundang Medical Center, CHA University School of Medicine)
  • Received : 2021.08.05
  • Accepted : 2021.09.10
  • Published : 2021.12.31
Download PDF
⟨ Previous Next ⟩

Abstract

Tetrasomy 18p is a genetic syndrome caused by an isochromosome consisting of two copies of the short arm of chromosome 18. Clinically, pediatric cases of tetrasomy 18p manifest with global developmental delay, similar to most cases of chromosomal abnormality. In addition, it causes various symptoms including abnormal muscle tone. We report a case of an infant with global developmental delay and remarkable spasticity, the typical phenotype of bilateral spastic cerebral palsy. However, she had a subtle anomaly in her face, and brain magnetic resonance imaging (MRI) findings were inconsistent with her strong upper motor neuron signs. Upon genetic testing, she was determined to have an 18p isochromosome, confirming de novo non-mosaic tetrasomy 18p. Cerebral palsy is a neurological disorder that includes developmental delay caused by a non-progressive lesion in the developing brain. During diagnostic workup in patients with cerebral palsy, genetic testing should be considered when there are minor physical anomalies or equivocal MRI findings.

Keywords

Acknowledgement

This research was supported by a grant from the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health & Welfare, Republic of Korea (grant number: HI16C1559).

References

  1. Kotzot D, Bundscherer G, Bernasconi F, Brecevic L, Lurie IW, Basaran S, et al. Isochromosome 18p results from maternal meiosis II nondisjunction. Eur J Hum Genet 1996;4:168-74. https://doi.org/10.1159/000472191
  2. O'Donnell L, Soileau BT, Sebold C, Gelfond J, Hale DE, Cody JD. Tetrasomy 18p: report of cognitive and behavioral characteristics. Am J Med Genet A 2015;167:1474-82. https://doi.org/10.1002/ajmg.a.37036
  3. Sebold C, Roeder E, Zimmerman M, Soileau B, Heard P, Carter E, et al. Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. Am J Med Genet A 2010;152:2164-72.
  4. Bawazeer S, Alshalan M, Alkhaldi A, AlAtwi N, AlBalwi M, Alswaid A, et al. Tetrasomy 18p: case report and review of literature. Appl Clin Genet 2018;11:9-14. https://doi.org/10.2147/TACG.S153469
  5. Jung PS, Won HS, Cho IJ, Hyun MK, Shim JY, Lee PR, et al. A case report of prenatally diagnosed tetrasomy 18p. Obstet Gynecol Sci 2013;56:190-3. https://doi.org/10.5468/ogs.2013.56.3.190
  6. Kim JH, Yun S, Hwang SS, Shim JO, Chae HW, Lee YJ, et al.; Committee for the Development of Growth Standards for Korean Children and Adolescents; Committee for School Health and Public Health Statistics, the Korean Pediatric Society; Division of Health and Nutrition Survey, Korea Centers for Disease Control and Prevention. The 2017 Korean National Growth Charts for children and adolescents: development, improvement, and prospects. Korean J Pediatr 2018;61:135-49. https://doi.org/10.3345/kjp.2018.61.5.135
  7. Bayley N. Bayley scales of infant development. 2nd ed. New York: Psychological Corporation, 1993.
  8. Wu Y, Ji T, Wang J, Xiao J, Wang H, Li J, et al. Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation. BMC Med Genet 2010;11:72. https://doi.org/10.1186/1471-2350-11-72
  9. Parodi L, Coarelli G, Stevanin G, Brice A, Durr A. Hereditary ataxias and paraparesias: clinical and genetic update. Curr Opin Neurol 2018;31:462-71. https://doi.org/10.1097/WCO.0000000000000585
  10. Bugge M, Blennow E, Friedrich U, Petersen MB, Pedeutour F, Tsezou A, et al. Tetrasomy 18p de novo: parental origin and different mechanisms of formation. Eur J Hum Genet 1996;4:160-7. https://doi.org/10.1159/000472190
  11. Eggermann T, Engels H, Apacik C, Moskalonek B, Muller-Navia J, Schwanitz G, et al. Tetrasomy 18p caused by paternal meiotic nondisjunction. Eur J Hum Genet 1997;5:175-7. https://doi.org/10.1159/000484755