4.4 Article

Unusual presentation of Loeys-Dietz syndrome: A case report of clinical findings and treatment challenges

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WORLD JOURNAL OF CLINICAL CASES
卷 10, 期 33, 页码 -

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BAISHIDENG PUBLISHING GROUP INC
DOI: 10.12998/wjcc.v10.i33.12247

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Loeys-Dietz syndrome; Pulmonary embolism; Gastrointestinal bleeding; Rare genetic disease; Therapeutic angiography; Unusual presentation; Rare disease; Case report

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This article presents a case study of a 35-year-old female with Loeys-Dietz syndrome type 4, who presented with lower gastrointestinal bleeding and severe abdominal pain. Computed tomography revealed vascular tortuosity in almost every abdominal vein.
BACKGROUND Loeys-Dietz syndrome (LDS) is a rare autosomal dominant syndrome characterized by heterozygous mutations causing multisystemic alterations. It was recently described in 2005, and today at least six different subtypes have been identified. Classically presenting with aortic root enlargement or aneurysms and craniofacial and skeletal abnormalities, with specific arterial tortuosity at any site. The differential diagnosis of LDS includes atypical Marfan syndrome, vascular Ehlers-Danlos syndrome, Shprintzen-Goldberg craniosynostosis, and familial aortic aneurysm and dissection syndrome. CASE SUMMARY We present a case study of a 35-year-old female who came to the emergency department due to lower gastrointestinal bleeding and severe abdominal pain. Computed tomography revealed vascular tortuosity in almost every abdominal vein. CONCLUSION This case report will help us analyze the infrequent presentation of LDS type 4 and the numerous complications that it implies, underlying the importance of publishing more cases in order to expand our knowledge and offer better treatment for these patients. Differential diagnosis, clinical presentation and treatment options for this syndrome are discussed in this article.

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