{"title":"亚历山大病患者的口腔检查结果:病例报告","authors":"Musashi Sawada , Chihiro Takasaki , Satoshi Tokura , Yasutaka Yawaka","doi":"10.1016/j.pdj.2024.06.002","DOIUrl":null,"url":null,"abstract":"<div><div><span>Alexander disease<span> (AxD) is a rare neurodegenerative disorder caused by mutation of the </span></span>glial fibrillary acidic protein<span><span> gene. AxD is characterized by severe motor impairment, intellectual disability, epilepsy, megalencephaly, and </span>seizures<span><span><span>. Although palatal tremor and palatal myoclonus<span> have been reported, no other oral findings in AxD patients have been described. Here, we report oral findings from house call dentistry for a 14-year 3-month-old child with AxD. Intraoral findings included </span></span>gingival hyperplasia<span><span>, partially impacted teeth, delayed eruption, </span>enamel hypoplasia<span><span>, macroglossia, anterior </span>open bite, and low </span></span></span>tongue posture. This is the first report of oral findings for an AxD patient.</span></span></div></div>","PeriodicalId":19977,"journal":{"name":"Pediatric Dental Journal","volume":"34 3","pages":"Pages 182-185"},"PeriodicalIF":0.6000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Oral findings in a patient with Alexander disease: A case report\",\"authors\":\"Musashi Sawada , Chihiro Takasaki , Satoshi Tokura , Yasutaka Yawaka\",\"doi\":\"10.1016/j.pdj.2024.06.002\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div><span>Alexander disease<span> (AxD) is a rare neurodegenerative disorder caused by mutation of the </span></span>glial fibrillary acidic protein<span><span> gene. AxD is characterized by severe motor impairment, intellectual disability, epilepsy, megalencephaly, and </span>seizures<span><span><span>. Although palatal tremor and palatal myoclonus<span> have been reported, no other oral findings in AxD patients have been described. Here, we report oral findings from house call dentistry for a 14-year 3-month-old child with AxD. Intraoral findings included </span></span>gingival hyperplasia<span><span>, partially impacted teeth, delayed eruption, </span>enamel hypoplasia<span><span>, macroglossia, anterior </span>open bite, and low </span></span></span>tongue posture. This is the first report of oral findings for an AxD patient.</span></span></div></div>\",\"PeriodicalId\":19977,\"journal\":{\"name\":\"Pediatric Dental Journal\",\"volume\":\"34 3\",\"pages\":\"Pages 182-185\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2024-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Dental Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0917239424000235\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"DENTISTRY, ORAL SURGERY & MEDICINE\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Dental Journal","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0917239424000235","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"DENTISTRY, ORAL SURGERY & MEDICINE","Score":null,"Total":0}
Oral findings in a patient with Alexander disease: A case report
Alexander disease (AxD) is a rare neurodegenerative disorder caused by mutation of the glial fibrillary acidic protein gene. AxD is characterized by severe motor impairment, intellectual disability, epilepsy, megalencephaly, and seizures. Although palatal tremor and palatal myoclonus have been reported, no other oral findings in AxD patients have been described. Here, we report oral findings from house call dentistry for a 14-year 3-month-old child with AxD. Intraoral findings included gingival hyperplasia, partially impacted teeth, delayed eruption, enamel hypoplasia, macroglossia, anterior open bite, and low tongue posture. This is the first report of oral findings for an AxD patient.