Nystagmus With Aniridia In An Infant - The Forgotten Link

A 3-month-old boy, second born to a non-consanguineous couple presented with jerky movement of eyeballs from the neonatal period.Perinatal history was uneventful; there was no history of abnormal body movements, poor feeding, or lethargy.He had a predominant motor delay in the form of poor neck control and visual fixation.On general physical examination, he had normal head circumference and no evidence of dysmorphism.On ophthalmic examination, horizontal nystagmus with partially absent iris tissue and epicanthal folds were noted in both eyes (Figure 1).Systemic examination revealed marked axial hypotonia.External genitalia were normal, and there was no abdominal lump.Ultrasound of the abdomen showed bilateral normal kidneys.MRI brain revealed cerebellar vermis hypoplasia with mild atrophy of the bilateral frontal cortex (Figure 2).Based on bilateral partial aniridia, non-progressive cerebellar ataxia, and intellectual disability, along with delayed developmental milestones and axial hypotonia, a diagnosis of GS was made.