Gillespie syndrome: An atypical form and review of the literature

Abstract

Introduction Gillespie syndrome (GS) is a rare genetic disorder that combines ocular and cerebral defects. It was first described in 1965, by Frederick D. Gillespie. He reported a triad of congenital aniridia, cerebellar ataxia and mental retardation in a 22-year-old woman and her 19-year-old brother. Its etiology is still unknown. To date, less than 30 patients have been reported in the literature. Observation We report the case of a 2 years old child, born of a consanguineous marriage. At the age of 8 months, the parents consulted for a delay in psychomotor acquisition for which the MRI performed showed a vermian hypoplasia. It was only at the age of 2 years, following a contusive trauma of the left eye that a partial aniridia was objectified on both eyes associated with a lens coloboma on the left eye. In view of these clinico-radiological data, the diagnosis of Gillespie syndrome was retained. Discussion Gillespie syndrome is a genetic disease. It combines ocular and neurological abnormalities. It was first described in 1965 by Gillespie. The ocular manifestations of Gillespie syndrome mainly concern the iris. Aniridia is always present with, in most cases, a scalloped appearance of the pupillary margin. It can be accompanied with additional ocular findings such as foveal, optic nerve hypoplasia, retinal hypopigmentation, and/or pigmentary macular changes leading to reduced visual acuity. In addition to ocular abnormalities, the Gillespie syndrome. (GS) includes neurological deficiencies, particularly axial hypotonia, lack of coordination, dysarthria and static and kinetic ataxia. Conclusion The diagnosis of Gillespie Syndrome should be evoked in any hypotonic child presenting with bilateral but partial aniridia. Prognosis depends on the proper management and anticipation of ocular and mental symptoms and disabilities.

A Case of Gillespie Syndrome With Atypical Presentation

“…The neurological examination revealed axial-locomotor ataxia at bilateral lower extremities, and mild dysmetria on the finger-to-nose maneuver bilaterally. The ophthalmologic examination showed scalloped pupils that were dilated and fixed bilaterally, pupils were non-reactive to light, which is a typical nonspecific examination finding in patients with Gillespie syndrome [ 5 - 6 ]. The exam also revealed pseudophakia, consistent with his past history of bilateral cataracts which were removed by surgery.…”