Early-onset renal dysfunction in Jeune syndrome: A case report with atypical presentation.

Autor: Al-Obaidi AD; University of Baghdad, College of Medicine, Baghdad, Iraq., Al-Obiade R; University of Baghdad, College of Medicine, Baghdad, Iraq., Al-Fatlawi N; University of Baghdad, College of Medicine, Baghdad, Iraq., Al-Badri SG; University of Baghdad, College of Medicine, Baghdad, Iraq., Al-Musawi M; University of Baghdad, College of Medicine, Baghdad, Iraq., Hashim HT; University of Warith Al-Anbiyaa, College of Medicine, Karbala, Iraq., Al-Zeena A; University of Al-Mustansiriyah, College Of Medicine, Baghdad, Iraq., Al-Obaidi MN; University of Baghdad, College of Medicine, Baghdad, Iraq., Hashim AS; University of Baghdad, College of Medicine, Baghdad, Iraq., Al-Awad A; University of Baghdad, College of Medicine, Baghdad, Iraq.
Jazyk: angličtina
Zdroj: Radiology case reports [Radiol Case Rep] 2024 Sep 13; Vol. 19 (12), pp. 5754-5757. Date of Electronic Publication: 2024 Sep 13 (Print Publication: 2024).
DOI: 10.1016/j.radcr.2024.08.108
Abstrakt: Jeune syndrome, a rare autosomal recessive disorder, is characterized by skeletal abnormalities, particularly a narrow, bell-shaped chest, leading to severe respiratory distress in newborns. This case report details a full-term female neonate presenting with significant respiratory challenges, typical skeletal features, and early-onset renal dysfunction. Despite normal initial imaging, persistent renal abnormalities were observed, underscoring the need for early diagnosis, vigilant monitoring, and a multidisciplinary management approach to optimize outcomes for patients with Jeune syndrome.
(© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)
Databáze: MEDLINE