Gaze Palsy: An Important Diagnostic Clue

A 30-month-old boy presented with global developmental delay and generalized dystonia since infancy. He was born to nonconsanguineous parents at term. He had a history of bilirubin encephalopathy requiring exchange blood transfusion on day 2 of life; maximum documented serum bilirubin was 20  mg/dL. On examination, he was hypotonic with intermittent dystonia involving all 4 limbs. He had a specific gaze restriction (Video; available at www.jpeds.com) that clinched the clinical diagnosis. Neuroimaging revealed bilateral globus pallidus hyperintensities (Figure).

Source: The Journal of Pediatrics - April 23, 2019 Category: Pediatrics Authors: Priyanka Madaan, Chaitanya Reddy, Lokesh Saini Tags: Rediscovering the Physical Exam Source Type: research