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.
