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Horizontal gaze palsy with progressive scoliosis: CT and MR findings
Rodrigo C Bomfim1, Daniel G F Távora, Mauro Nakayama
1Department of Radiology, The Sarah Network of Rehabilitation Hospitals, Av. Presidente Juscelino Kubitschek, 4.500 Passaré Fortaleza, Ceara, 60.861-630, Brazil. rodrigobomfim@sarah.br
Insights
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder. This case highlights typical neuroimaging findings, including pons hypoplasia and absent facial colliculi, aiding diagnosis.
Area of Science:
- Neurology
- Medical Genetics
- Pediatric Neurology
Background:
- Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder.
- It is characterized by absent conjugate horizontal eye movements and progressive scoliosis during childhood and adolescence.
Observation:
- A case study of a child presenting with clinical and neuroimaging features consistent with HGPPS.
- The patient exhibited typical signs of this rare neurological condition.
Findings:
- Brain CT and MRI revealed specific abnormalities.
- Key findings included pons hypoplasia, absence of the facial colliculi, a butterfly configuration of the medulla, and a deep midline pontine cleft.
Implications:
- Accurate neuroimaging is crucial for diagnosing HGPPS.
- Understanding these imaging aspects aids in the diagnosis and management of this rare disorder.
- This case contributes to the literature on HGPPS imaging characteristics.
Abstract:
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and progressive scoliosis developing in childhood and adolescence. We present a child with clinical and neuroimaging findings typical of HGPPS. CT and MRI of the brain demonstrated pons hypoplasia, absence of the facial colliculi, butterfly configuration of the medulla and a deep midline pontine cleft. We briefly discuss the imaging aspects of this rare entity in light of the current literature.
