Abstract Rationale: Horizontal Gaze Palsy and Progressive Scoliosis syndrome (HGPPS) is a very rare autosomal recessive disorder that has been reported mainly in consanguineous families. Our aim was to describe a rare case of HGPPS in a pediatric patient. Patient concerns: A 3-year-old male child was referred to our pediatric ophthalmology clinic because of squint since he was 6 months old. His parents were concerned that both eyes gradually became more esotropic over the past year. In addition, the child was unable to walk independently and was undergoing physiotherapy for mobility issues. Diagnoses: Skeletal examination revealed scoliosis. The child was unable to stand without any support. Orthoptic assessment revealed bilateral horizontal gaze palsy with abduction deficit, convergent squint, and pendular nystagmus. Vertical eye movements were preserved. Convergence was also preserved. Magnetic resonance imaging revealed bilateral hypoplastic sixth nerve nuclei with brainstem hypoplasia, the presence of a deep midline pontine cleft, and a butterfly shaped medulla. The child was referred to the genetic clinic, and mutation in the ROBO 3 gene was confirmed. The patient was diagnosed with HGPPS. Interventions: The esotropia was corrected with prisms, and no other surgical intervention was attempted due to the child's general poor health. Outcomes: To date, the esotropia has remained stable around 35 to 40 diopters, and its control with prism has been adequate. The total follow-up time from the presenting appointment in our clinic until the most recent appointment was approximately two years. Lessons: HGPPS is a rare autosomal recessive syndrome characterized by clinical and radiological findings. Our main learning point is that the diagnosis of HGPPS should be included in the differential diagnosis in children who present with combined symptoms of squint and skeletal abnormalities.
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