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Infantile Neuroaxonal Dystrophy -증례 보고-

Other Titles
 A Case of Infantile Neuroaxonal Dystrophy 
Authors
 박창일  ;  신지철  ;  김유철  ;  김현정 
Citation
 Journal of the Korean Academy of Rehabilitation Medicine (대한재활의학회지), Vol.21(1) : 223-228, 1997 
Journal Title
 Journal of the Korean Academy of Rehabilitation Medicine (대한재활의학회지) 
ISSN
 1225-584X 
Issue Date
1997
Keywords
Infantile neuroaxonal dystrophy, Magnetic Resonance Imaging
Abstract
We herein report a case of infantile neuroaxonal dystrophy(INAD) with protracted course. The 3 year old patient suffered from ataxia, gait disturbance, oculomotor disturbance, psychomotor regression and bilateral pyramidal tract signs since the age of two. Similar neurological symptoms occurred in his elder brother, beginning at the age of one, who eventually died at the age of four. Magnetic Resonance Imaging(MRI) of the patient showed progressive atrophy of cerebral cortex and cerebellum with diffusely increased T2 signal in bilateral cerebellar hemisphere. The patient's brother revealed similar findings. MRI of the suspected cases may facilitate early diagnosis of INAD, and since it is a well-established autosomal recessive neurodegenerative disaese, early and appropriate genetic counseling of the parents is required.
Files in This Item:
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers
Yonsei Authors
Park, Chang Il(박창일)
Shin, Ji Cheol(신지철) ORCID logo https://orcid.org/0000-0002-1133-1361
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/177842
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