Document Type
Journal Article
Publication Date
4-13-2018
Journal
Translational Science of Rare Diseases
Volume
3
Issue
1
Inclusive Pages
45-48
DOI
10.3233/TRD-180020
Abstract
Sengers syndrome is a rare autosomal recessive mitochondrial disease characterized by lactic acidosis, hypertrophic cardiomyopathy and bilateral cataracts. We present here a case of neonatal demise, within the first day of life, who initially presented with severe lactic acidosis, with evidence of both chorioamnionitis and cardiogenic shock. Initial metabolic labs demonstrated a severe lactic acidosis prompting genetic testing which revealed a homozygous pathogenic variant for Sengers syndrome in
Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial 4.0 License
APA Citation
Beck, D., Cusmano-Ozog, K., Andescavage, N., & Leon, E. (2018). Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction.. Translational Science of Rare Diseases, 3 (1). http://dx.doi.org/10.3233/TRD-180020
Peer Reviewed
1
Open Access
1
Comments
Reproduced with permission of IOS Press. Translational Science of Rare Diseases