Horizontal Gaze Palsy with Progressive Scoliosis: A Case Report and Literature Review
1Department of Ophthalmology, Emsey Hospital, Pendik, Istanbul, Turkey.
Insights
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare genetic disorder caused by ROBO 3 gene mutations. This case highlights the importance of recognizing HGPPS in children with both gaze palsy and scoliosis for timely intervention.
Area of Science:
- Genetics
- Neurology
- Orthopedics
Background:
- Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disorder.
- It is characterized by congenital horizontal gaze palsy and progressive scoliosis, often associated with brainstem abnormalities.
- Mutations in the ROBO 3 gene are identified as the cause of HGPPS.
Abstract:
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disorder. The ROBO 3 gene mutation is responsible for the disease. We present a boy aged 12 years who was admitted for scoliosis surgery who had also had horizontal gaze palsy since birth. His brainstem abnormalities were compatible with the syndrome of HGPPS. HGPPS is one of the rare congenital diseases of childhood. Horizontal gaze palsy, ametropia, and progressive scoliosis are the main findings of the disease. This syndrome should be kept in mind for both ophthalmologists and orthopaedic surgeons in patients who present with gaze palsy and scoliosis. Early diagnosis of scoliosis makes it possible to treat the disease at an early stage, and early diagnosis of ametropia is important in the prevention of amblyopia.
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