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Journal of the Korean Academy of Rehabilitation Medicine 1997;21(1):223-228.
A Case of Infantile Neuroaxonal Dystrophy.
Park, Chang Il , Shin, Ji Cheol , Kim, You Chul , Kim, Hyun Jung
Department of Rehabilitation Medicine and Research Institute of Rehabilitation, Yonsei University College of Medicine, Seoul, Korea.
Infantile Neuroaxonal Dystrophy -증례 보고-
박창일, 신지철, 김유철, 김현정
연세대학교 의과대학 재활의학교실 및 재활의학 연구소

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.

Key Words: Infantile neuroaxonal dystrophy, Magnetic Resonance Imaging


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