The Triad of Non-progressive Cerebellar Ataxia, Partial Aniridia and Psychomotor Delay — Gillespie Syndrome

Excerpt

A 2-y-old boy with global developmental delay and unsteadiness noticed since infancy, was evaluated. Perinatal and family history was not contributory. On examination, he had developmental age of 8 mo, normal head circumference (48 cm), persistent bilateral mydriasis (Fig. 1a, b), normal fundii and extraocular movements, generalized hypotonia, normal muscle stretch reflexes, bilateral Babinski’s sign, truncal ataxia, intention tremors and intermittent, horizontal nystagmus. Magnetic resonance imaging of the brain showed diffuse cerebellar atrophy (Fig. 1c, d). Electrocardiogram, cardiac echocardiography and spine radiographs were normal. Karyotype was normal male 46,XY. Based on the clinical and radiological findings, a diagnosis of Gillespie syndrome was concluded.

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