{"title":"2岁女童Smith-Magenis综合征伴Dandy-Walker畸形1例报告。","authors":"Wen-Tong Zhu, Lu-Xia Jiang, Yu-Mei Ma, Xiang-Yang Wu, Qi-Ming Zhao","doi":"10.1177/03000605241310844","DOIUrl":null,"url":null,"abstract":"<p><p>Smith-Magenis syndrome (SMS) and Dandy-Walker malformation (DWM) are uncommon genetic conditions with nonspecific clinical features, which makes reaching a definitive diagnosis challenging. We describe here, a 2-year-old girl who was diagnosed with SMS at the age of 12 months due to delayed growth and development. The child presented to hospital with acute heart failure and respiratory failure. During the treatment process, her response was limited, and her recovery was slow. A subsequent head computed tomography (CT) scan showed abnormalities consistent with the diagnosis of comorbid DWM. We believe that this is the first reported case of a patient with SMS combined with DWM. By reporting this case, we aim to offer clinicians valuable insights into these rare diseases and provide a framework for future clinical diagnosis and treatment.</p>","PeriodicalId":16129,"journal":{"name":"Journal of International Medical Research","volume":"53 1","pages":"3000605241310844"},"PeriodicalIF":1.4000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11724420/pdf/","citationCount":"0","resultStr":"{\"title\":\"Smith-Magenis syndrome with Dandy-Walker malformation in a 2-year-old girl: A case report.\",\"authors\":\"Wen-Tong Zhu, Lu-Xia Jiang, Yu-Mei Ma, Xiang-Yang Wu, Qi-Ming Zhao\",\"doi\":\"10.1177/03000605241310844\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Smith-Magenis syndrome (SMS) and Dandy-Walker malformation (DWM) are uncommon genetic conditions with nonspecific clinical features, which makes reaching a definitive diagnosis challenging. We describe here, a 2-year-old girl who was diagnosed with SMS at the age of 12 months due to delayed growth and development. The child presented to hospital with acute heart failure and respiratory failure. During the treatment process, her response was limited, and her recovery was slow. A subsequent head computed tomography (CT) scan showed abnormalities consistent with the diagnosis of comorbid DWM. We believe that this is the first reported case of a patient with SMS combined with DWM. By reporting this case, we aim to offer clinicians valuable insights into these rare diseases and provide a framework for future clinical diagnosis and treatment.</p>\",\"PeriodicalId\":16129,\"journal\":{\"name\":\"Journal of International Medical Research\",\"volume\":\"53 1\",\"pages\":\"3000605241310844\"},\"PeriodicalIF\":1.4000,\"publicationDate\":\"2025-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11724420/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of International Medical Research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1177/03000605241310844\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"MEDICINE, RESEARCH & EXPERIMENTAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of International Medical Research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/03000605241310844","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICINE, RESEARCH & EXPERIMENTAL","Score":null,"Total":0}
Smith-Magenis syndrome with Dandy-Walker malformation in a 2-year-old girl: A case report.
Smith-Magenis syndrome (SMS) and Dandy-Walker malformation (DWM) are uncommon genetic conditions with nonspecific clinical features, which makes reaching a definitive diagnosis challenging. We describe here, a 2-year-old girl who was diagnosed with SMS at the age of 12 months due to delayed growth and development. The child presented to hospital with acute heart failure and respiratory failure. During the treatment process, her response was limited, and her recovery was slow. A subsequent head computed tomography (CT) scan showed abnormalities consistent with the diagnosis of comorbid DWM. We believe that this is the first reported case of a patient with SMS combined with DWM. By reporting this case, we aim to offer clinicians valuable insights into these rare diseases and provide a framework for future clinical diagnosis and treatment.
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_Journal of International Medical Research_ is a leading international journal for rapid publication of original medical, pre-clinical and clinical research, reviews, preliminary and pilot studies on a page charge basis.
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Print ISSN: 0300-0605
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