Abstract
Horizontal gaze palsy and progressive scoliosis (HGPPS) is an autosomal recessive disease with a mutation in the ROBO3 gene. Features include horizontal gaze palsy, preserved vertical eye movements, and convergence. Progressive scoliosis is present in all patients. On MRI, HGPPS is characterized by brainstem hypoplasia, bifid medulla, split pons sign, and absence of facial colliculi. We report two siblings who presented with characteristic ocular and neuroimaging features of HGPPS but no scoliosis. The diagnosis was confirmed by neuroimaging and genetic analysis. This case report highlights the role of suspecting HGPPS in children with gaze palsy and characteristic neuroimaging findings even when there is an absence of clinical manifestation of scoliosis. Subsequent referral should be made to the orthopedician to rule out scoliosis both clinically and radiologically.
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