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

• 발행기관: 대한의학유전학회
• 저자명: Ikhyun Lim Sang Hee Park Mi Ri Suh Hyunseok Kwak Wookyung Park Sung Han Shim MinYoung Kim
• 간행물 정보: 『대한의학유전학회지』제18권 제2호, 105~109쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2021.12.31

영문 초록

Tetrasomy 18p is a genetic syndrome caused by an isochromosome consisting of two copies of the short arm of chromo-some 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.

목차

Introduction

Case

Discussion

Acknowledgements

Authors’ Contributions

References

키워드

Tetrasomy 18p Cerebral palsy Hereditary spastic paraplegia