Gillespie syndrome: Two further cases

We describe two unrelated male children with Gillespie syndrome, a rare genetic disorder consisting of cerebellar ataxia, partial aniridia, and psychomotor delay. One was more severely affected than the other, but neither had evidence of neuroregression. Partial aniridia was a key diagnostic marker, present at birth in both patients. Neurocognitive impairment and cerebellar ataxia were severe in one and mild in the other. The genetics of this condition remain undefined. Although believed to be an autosomal recessive condition, no clear, single candidate gene has been identified.