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Journal of the Korean Academy of Rehabilitation Medicine 1999;23(1):181-185.
Gillespie Syndrome with Partial Aniridia, Cerebellar Ataxia, Delayed Development: A case report.
Chang, Sung Koo , Oh, Hyeon Il , Yoo, Yeo Jyne , Ahn, Si Hyun , Jang, Ik Hwan
1Department of Rehabilitation Medicine, Dongrae Bong Seng Hospital.
2Department of Rehabilitation Medicine, Bong Seng Memorial Hospital.
부분적 홍채 무형성증, 소뇌성 운동실조, 발달 지연을 주소로 한 Gillespie 증후군 ⁣증례 보고⁣
장성구, 오현일, 유여진, 안시현, 장익환1
동래봉생병원 및 1정화 의료 재단 김원묵기념 봉생병원 재활의학과
Abstract

In 1965 Gillespie reported a new syndrome of bilateral aniridia, cerebellar ataxia, and oligophrenia (mental retardation). This new syndrome was named Gillespie syndrome. Since then only 17 cases of Gillespie syndrome have been reported in UK, Brazil, Ireland, Belgium, Australia, and US. A case of Gillespie syndrome was not reported in Korea.

A 4 year-old girl has triad of Gillespie syndrome, which are partial aniridia, cerebellar ataxia and mental retardation. We confirmed this with ophthalmologic examination, brain MRI, and developmental delay. We report the typical manifestation of Gillespie syndrome in a 4 year-old girl with the brief review of literature.

Key Words: Gillespie syndrome, Partial aniridia, Cerebellar ataxia, Mental retardation, Delayed development


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