A Case of Gillespie Syndrome without Aniridia

Gillespie syndrome is a rare, congenital disease that typically presents in childhood with cerebellar ataxia, aniridia, and intellectual disability. Since the first case was reported in the literature in 1965, recent studies have shown that the mutations in Gillespie patients occur in the 1,4,5trisphosphate receptor type 1 (ITPR1) gene. In our study, we present the first case of genetically diagnosed Gillespie syndrome in a child who does not present with aniridia. This child of first-degree consanguineous parents presents with a novel homozygous mutation in the ITPR1 gene. In addition, her other symptoms are mild when compared to known Gillespie syndrome cases in the literature, and this is the first reported case of Gillespie syndrome in Lebanon and the Middle East. This underscores the importance of genetic testing when diagnosing neurological syndromes, and the potential for multivariable presentation of patients with such syndromes.