Čes-slov Pediat 2025, 80(6):295-298 | DOI: 10.55095/CSPediatrie2025/035

Gillespie syndrome

Adriána Zelníková^{1, 2}, Anna Maurská¹, Ivana Paučinová³, Michal Štubňa¹

¹ Očné oddelenie, Fakultná nemocnica s poliklinikou v Žiline

² 1. lékařská fakulta, Univerzita Karlova, Praha

³ Oddelenie lekárskej genetiky, Fakultná nemocnica s poliklinikou v Žiline

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: Gillespie syndrome, aniridia, cerebellar ataxia, de novo

Received: March 4, 2025; Revised: June 9, 2025; Accepted: June 11, 2025; Published: August 1, 2025  Show citation