Gillespie syndrome

Czech version

Authors: Adriána Zelníková ^1,2; Anna Maurská ¹; Ivana Paučinová ³; Michal Štubňa ¹
Authors‘ workplace: Očné oddelenie, Fakultná nemocnica, s poliklinikou v Žiline ¹; 1. lékařská fakulta, Univerzita Karlova, Praha ²; Oddelenie lekárskej genetiky, Fakultná nemocnica, s poliklinikou v Žiline ³
Published in: Čes-slov Pediat 2025; 80 (6): 295-298.
Category: Case Report
doi: https://doi.org/10.55095/CSPediatrie2025/035

Overview

Zelníková A, Maurská A, Paučinová I, Štubňa M. Gillespie syndrome

Gillespie syndrome is an extremely rare genetic disorder characterized by a triad of symptoms: non-progressive cerebellar ataxia, partial aniridia, and psychomotor delay. The incidence of this disease is extremely low, with a prevalence of less than 1 : 1,000,000 live births. The syndrome is associated with pathogenic variants in the ITPR1 gene, which is responsible for the regulation of calcium channels in cells. In this paper, we present the case of a 5-year-old boy diagnosed with Gillespie syndrome.

The 5-year-old boy was referred for an eye examination due to the finding of “big pupils“. The first symptoms appeared at the age of four months in the form of hypotonic episodes and tremors. Neurological examinations confirmed developmental delay, and ataxic gait. Upon ophthalmic examination, horizontal nystagmus and partial aniridia were present in both eyes, with a „scalloping“ of the iris. Genetic testing revealed the variant c.7622T>C in a heterozygous state in the ITPR1 gene, which is a variant of unclear clinical significance but associated with Gillespie syndrome.

Gillespie syndrome is a rare and non-progressive genetic disorder that primarily manifests as ocular and neurological abnormalities. The diagnosis is confirmed based on the clinical presentation and genetic testing. Treatment is supportive and focuses on symptom management.

Keywords:

Cerebellar ataxia – Gillespie syndrome – aniridia – de novo

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