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

ABSTRACT:

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

SUBMITTER: Azrad-Daniel S 

PROVIDER: S-EPMC9724511 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature