A Sri Lankan boy with Emery-Dreifuss muscular dystrophy 5 presenting during infancy with persistent transaminitis
Here, we report an extremely rare presentation of Emery-Dreifuss muscular dystrophy 5 during infancy with transaminitis. This case report highlights the importance of evaluating non-hepatic causes for elevated transaminases and the usefulness of whole exome sequencing in establishing an accurate diagnosis when relatively uncommon diseases are suspected.
Authors
- Sachith Mettananda (ORCID: https://orcid.org/0000-0002-0760-0418)
- Padmapani Padeniya (ORCID: https://orcid.org/0000-0003-4197-9799)
- Tharindi Suriapperuma (ORCID: https://orcid.org/0000-0002-8129-1297)
- Manissha Rajeindran
- Thakshila Vipulanayake
- Gihani Dineshika
Institutions
- University of Kelaniya (LK)
- Colombo North Teaching Hospital (LK)
- Institut thématique Génétique, génomique et bioinformatique (FR)
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2025-10-24
- DOI
- https://doi.org/10.1186/s12887-025-06225-z
- Primary Topic
- Nuclear Structure and Function
- Type
- article
- Field-Weighted Citation Impact
- 0.00