{"title":"水平凝视麻痹和进行性脊柱侧凸：临床概况和文献回顾。","authors":"Manjushree Bhate, Shruthi Bathula, Ravi Varma","doi":"10.3928/01913913-20250724-04","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>To describe a rare inherited disorder in five patients presenting with horizontal gaze palsy along with characteristic abnormalities on neuroimaging.</p><p><strong>Methods: </strong>A retrospective review was conducted from January 2016 to December 2022 of all patients with the diagnosis of horizontal gaze palsy with progressive scoliosis (HGPPS). Neuroimaging was performed in all patients and genetic testing in those who consented.</p><p><strong>Results: </strong>All five patients had limitation of abduction and adduction in both eyes on attempted horizontal gazes with intact elevation, depression, and convergence. Two patients presented with synergistic convergence. Esotropia requiring strabismus surgery was present in one patient. Magnetic resonance imaging of the brain and orbit in all patients showed brainstem hypoplasia with \"split pons\" sign and a \"butterfly configuration\" of the medulla, which are characteristic of HGPPS. Genetic analysis of 3 patients confirmed the presence of <i>ROBO3</i> gene mutations. Scoliosis was noted in 2 patients.</p><p><strong>Conclusions: </strong>Early diagnosis and a multidisciplinary approach is important in the management of such cases. Phenotypic variations such as in the cases described may be observed in HGPPS.</p>","PeriodicalId":50095,"journal":{"name":"Journal of Pediatric Ophthalmology & Strabismus","volume":" ","pages":"1-7"},"PeriodicalIF":0.9000,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Horizontal Gaze Palsy and Progressive Scoliosis: Clinical Profile and Review of Literature.\",\"authors\":\"Manjushree Bhate, Shruthi Bathula, Ravi Varma\",\"doi\":\"10.3928/01913913-20250724-04\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>To describe a rare inherited disorder in five patients presenting with horizontal gaze palsy along with characteristic abnormalities on neuroimaging.</p><p><strong>Methods: </strong>A retrospective review was conducted from January 2016 to December 2022 of all patients with the diagnosis of horizontal gaze palsy with progressive scoliosis (HGPPS). Neuroimaging was performed in all patients and genetic testing in those who consented.</p><p><strong>Results: </strong>All five patients had limitation of abduction and adduction in both eyes on attempted horizontal gazes with intact elevation, depression, and convergence. Two patients presented with synergistic convergence. Esotropia requiring strabismus surgery was present in one patient. Magnetic resonance imaging of the brain and orbit in all patients showed brainstem hypoplasia with \\\"split pons\\\" sign and a \\\"butterfly configuration\\\" of the medulla, which are characteristic of HGPPS. Genetic analysis of 3 patients confirmed the presence of <i>ROBO3</i> gene mutations. Scoliosis was noted in 2 patients.</p><p><strong>Conclusions: </strong>Early diagnosis and a multidisciplinary approach is important in the management of such cases. Phenotypic variations such as in the cases described may be observed in HGPPS.</p>\",\"PeriodicalId\":50095,\"journal\":{\"name\":\"Journal of Pediatric Ophthalmology & Strabismus\",\"volume\":\" \",\"pages\":\"1-7\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2025-09-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Pediatric Ophthalmology & Strabismus\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.3928/01913913-20250724-04\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pediatric Ophthalmology & Strabismus","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3928/01913913-20250724-04","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
Horizontal Gaze Palsy and Progressive Scoliosis: Clinical Profile and Review of Literature.
Purpose: To describe a rare inherited disorder in five patients presenting with horizontal gaze palsy along with characteristic abnormalities on neuroimaging.
Methods: A retrospective review was conducted from January 2016 to December 2022 of all patients with the diagnosis of horizontal gaze palsy with progressive scoliosis (HGPPS). Neuroimaging was performed in all patients and genetic testing in those who consented.
Results: All five patients had limitation of abduction and adduction in both eyes on attempted horizontal gazes with intact elevation, depression, and convergence. Two patients presented with synergistic convergence. Esotropia requiring strabismus surgery was present in one patient. Magnetic resonance imaging of the brain and orbit in all patients showed brainstem hypoplasia with "split pons" sign and a "butterfly configuration" of the medulla, which are characteristic of HGPPS. Genetic analysis of 3 patients confirmed the presence of ROBO3 gene mutations. Scoliosis was noted in 2 patients.
Conclusions: Early diagnosis and a multidisciplinary approach is important in the management of such cases. Phenotypic variations such as in the cases described may be observed in HGPPS.
期刊介绍：
The Journal of Pediatric Ophthalmology & Strabismus is a bimonthly peer-reviewed publication for pediatric ophthalmologists. The Journal has published original articles on the diagnosis, treatment, and prevention of eye disorders in the pediatric age group and the treatment of strabismus in all age groups for over 50 years.
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