{"title":"探索视网膜发育不良的不同成像谱:一个病例系列","authors":"Sundar Suwal MD , Abhikanta Khatiwada MD , Suman Lamichhane MD , Prasson Ghimire MD , Sharada KC MD","doi":"10.1016/j.radcr.2024.09.159","DOIUrl":null,"url":null,"abstract":"<div><div>Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a rare congenital disorder characterized by a combination of optic nerve hypoplasia, hypothalamic-pituitary dysfunction, and midline brain abnormalities, such as the absence of the septum pellucidum or thinning/agenesis of the corpus callosum. Although bilateral optic nerve hypoplasia is more common, unilateral involvement occurs less frequently. When SOD is associated with cortical malformations, such as schizencephaly, it is referred to as Septo-optic dysplasia plus. In this series, we present 3 different manifestations of SOD, including unilateral optic nerve hypoplasia and associated cortical malformations. Prompt clinical suspicion, supported by radiological imaging, is crucial for timely diagnosis and effective management of patients with this condition.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Exploring the diverse imaging spectrum of Septo-optic dysplasia: A case series\",\"authors\":\"Sundar Suwal MD , Abhikanta Khatiwada MD , Suman Lamichhane MD , Prasson Ghimire MD , Sharada KC MD\",\"doi\":\"10.1016/j.radcr.2024.09.159\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a rare congenital disorder characterized by a combination of optic nerve hypoplasia, hypothalamic-pituitary dysfunction, and midline brain abnormalities, such as the absence of the septum pellucidum or thinning/agenesis of the corpus callosum. Although bilateral optic nerve hypoplasia is more common, unilateral involvement occurs less frequently. When SOD is associated with cortical malformations, such as schizencephaly, it is referred to as Septo-optic dysplasia plus. In this series, we present 3 different manifestations of SOD, including unilateral optic nerve hypoplasia and associated cortical malformations. Prompt clinical suspicion, supported by radiological imaging, is crucial for timely diagnosis and effective management of patients with this condition.</div></div>\",\"PeriodicalId\":53472,\"journal\":{\"name\":\"Radiology Case Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-10-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Radiology Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S193004332401104X\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Radiology Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S193004332401104X","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Exploring the diverse imaging spectrum of Septo-optic dysplasia: A case series
Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a rare congenital disorder characterized by a combination of optic nerve hypoplasia, hypothalamic-pituitary dysfunction, and midline brain abnormalities, such as the absence of the septum pellucidum or thinning/agenesis of the corpus callosum. Although bilateral optic nerve hypoplasia is more common, unilateral involvement occurs less frequently. When SOD is associated with cortical malformations, such as schizencephaly, it is referred to as Septo-optic dysplasia plus. In this series, we present 3 different manifestations of SOD, including unilateral optic nerve hypoplasia and associated cortical malformations. Prompt clinical suspicion, supported by radiological imaging, is crucial for timely diagnosis and effective management of patients with this condition.
期刊介绍:
The content of this journal is exclusively case reports that feature diagnostic imaging. Categories in which case reports can be placed include the musculoskeletal system, spine, central nervous system, head and neck, cardiovascular, chest, gastrointestinal, genitourinary, multisystem, pediatric, emergency, women''s imaging, oncologic, normal variants, medical devices, foreign bodies, interventional radiology, nuclear medicine, molecular imaging, ultrasonography, imaging artifacts, forensic, anthropological, and medical-legal. Articles must be well-documented and include a review of the appropriate literature.