A Child with Joubert Syndrome: Clinical and Imaging Features

Joubert syndrome is a rare autosomal recessive congenital syndrome that was first described by Joubert in 1969.[1] Diagnosis is based upon clinical features such as hypotonia, developmental delay, and progressive ataxia. The syndrome can have variable ophthalmic features such as ptosis; ocular motor signs, including nystagmus, horizontal strabismus, “wheel‑rolling” torsional eye movements, periodic alternating gaze deviation, elevation of the abducting eye on lateral gaze (with bilateral superior rectus and superior oblique muscle over‑action), and skew deviation; and also fundus disorders such as optic nerve drusen, cellophane maculopathy, and pigmentary change at the periphery of the retina.