Early-onset renal dysfunction in Jeune syndrome: A case report with atypical presentation
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.
Authors
- Ahmed Dheyaa Al‐Obaidi
- Hashim Talib Hashim (ORCID: https://orcid.org/0000-0001-6155-7302)
- Ahmed Shamil Hashim
- Mustafa Al‐Musawi (ORCID: https://orcid.org/0009-0009-3221-3872)
- Mustafa Najah Al‐Obaidi
- Abdullah Alawad (ORCID: https://orcid.org/0000-0003-1924-5879)
- Sajjad Ghanim Al‐Badri (ORCID: https://orcid.org/0009-0003-6259-1045)
- Nabeel Al‐Fatlawi (ORCID: https://orcid.org/0000-0003-3048-0984)
- Reem Al-Obiade
- Asma Al-Zeena
Institutions
- University of Baghdad (IQ)
- Mustansiriyah University (IQ)
- University of Kerbala (IQ)
- University of Warith Al-Anbiyaa
Publication Details
- Journal
- Radiology Case Reports
- Published
- 2024-09-13
- DOI
- https://doi.org/10.1016/j.radcr.2024.08.108
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00