{"title":"脑病新生儿垂体柄中断综合征1例报告","authors":"Mary J. Jose, L. Leijser, A. Pauranik, H. Amin","doi":"10.2174/03666220303155523","DOIUrl":null,"url":null,"abstract":"\n\nPituitary Stalk Interruption Syndrome is a rare midline brain anomaly involving the pituitary gland that leads to a variable degree of pituitary\nhypofunction with a classic neuroimaging finding of the ectopic posterior pituitary, thin or absent pituitary stalk, and anterior pituitary hypoplasia.\n\n\n\nWe present the case of a term newborn who developed encephalopathy and respiratory distress during the neonatal period and was later diagnosed\nwith Pituitary Stalk Interruption Syndrome.\n\n\n\nGenetic defects have been identified in 5% of cases, and at times there are associated extra pituitary malformations. In spite of being a welldescribed syndrome, a detailed description of its neonatal presentation and course is lacking in the literature.\n","PeriodicalId":110816,"journal":{"name":"New Emirates Medical Journal","volume":"112 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2022-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Pituitary Stalk Interruption Syndrome in a Newborn with Encephalopathy: A\\nCase Report\",\"authors\":\"Mary J. Jose, L. Leijser, A. Pauranik, H. Amin\",\"doi\":\"10.2174/03666220303155523\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\\n\\nPituitary Stalk Interruption Syndrome is a rare midline brain anomaly involving the pituitary gland that leads to a variable degree of pituitary\\nhypofunction with a classic neuroimaging finding of the ectopic posterior pituitary, thin or absent pituitary stalk, and anterior pituitary hypoplasia.\\n\\n\\n\\nWe present the case of a term newborn who developed encephalopathy and respiratory distress during the neonatal period and was later diagnosed\\nwith Pituitary Stalk Interruption Syndrome.\\n\\n\\n\\nGenetic defects have been identified in 5% of cases, and at times there are associated extra pituitary malformations. In spite of being a welldescribed syndrome, a detailed description of its neonatal presentation and course is lacking in the literature.\\n\",\"PeriodicalId\":110816,\"journal\":{\"name\":\"New Emirates Medical Journal\",\"volume\":\"112 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-03-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"New Emirates Medical Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2174/03666220303155523\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"New Emirates Medical Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2174/03666220303155523","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Pituitary Stalk Interruption Syndrome in a Newborn with Encephalopathy: A
Case Report
Pituitary Stalk Interruption Syndrome is a rare midline brain anomaly involving the pituitary gland that leads to a variable degree of pituitary
hypofunction with a classic neuroimaging finding of the ectopic posterior pituitary, thin or absent pituitary stalk, and anterior pituitary hypoplasia.
We present the case of a term newborn who developed encephalopathy and respiratory distress during the neonatal period and was later diagnosed
with Pituitary Stalk Interruption Syndrome.
Genetic defects have been identified in 5% of cases, and at times there are associated extra pituitary malformations. In spite of being a welldescribed syndrome, a detailed description of its neonatal presentation and course is lacking in the literature.