Brian M. Smith DMD , Bruce J. Cutilli DMD, MD , Michael Fedele DMD
{"title":"Lesch-Nyhan综合症。一份病例报告。","authors":"Brian M. Smith DMD , Bruce J. Cutilli DMD, MD , Michael Fedele DMD","doi":"10.1016/0030-4220(94)90061-2","DOIUrl":null,"url":null,"abstract":"<div><p>Lesch-Nyhan syndrome is a rare anomaly consisting of a deficiency in the production of hypoxanthine phosphoribosyltransferase that leads to the overproduction of purine and the accumulation of uric acid. Major manifestations include mental retardation and self-destructive behavior resulting in self-mutilation through biting and scratching. Because no medical treatment exists to alleviate the symptoms of self-mutilation, direct dental intervention is the only way these behaviors can be affected. A unique case of this type involving two male identical twins is reported.</p></div>","PeriodicalId":100992,"journal":{"name":"Oral Surgery, Oral Medicine, Oral Pathology","volume":"78 3","pages":"Pages 317-318"},"PeriodicalIF":0.0000,"publicationDate":"1994-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/0030-4220(94)90061-2","citationCount":"30","resultStr":"{\"title\":\"Lesch-Nyhan syndrome\",\"authors\":\"Brian M. Smith DMD , Bruce J. Cutilli DMD, MD , Michael Fedele DMD\",\"doi\":\"10.1016/0030-4220(94)90061-2\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Lesch-Nyhan syndrome is a rare anomaly consisting of a deficiency in the production of hypoxanthine phosphoribosyltransferase that leads to the overproduction of purine and the accumulation of uric acid. Major manifestations include mental retardation and self-destructive behavior resulting in self-mutilation through biting and scratching. Because no medical treatment exists to alleviate the symptoms of self-mutilation, direct dental intervention is the only way these behaviors can be affected. A unique case of this type involving two male identical twins is reported.</p></div>\",\"PeriodicalId\":100992,\"journal\":{\"name\":\"Oral Surgery, Oral Medicine, Oral Pathology\",\"volume\":\"78 3\",\"pages\":\"Pages 317-318\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1994-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/0030-4220(94)90061-2\",\"citationCount\":\"30\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Oral Surgery, Oral Medicine, Oral Pathology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/0030422094900612\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Oral Surgery, Oral Medicine, Oral Pathology","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/0030422094900612","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Lesch-Nyhan syndrome is a rare anomaly consisting of a deficiency in the production of hypoxanthine phosphoribosyltransferase that leads to the overproduction of purine and the accumulation of uric acid. Major manifestations include mental retardation and self-destructive behavior resulting in self-mutilation through biting and scratching. Because no medical treatment exists to alleviate the symptoms of self-mutilation, direct dental intervention is the only way these behaviors can be affected. A unique case of this type involving two male identical twins is reported.
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