"Extending the phenotypic spectrum of Sengers syndrome: Congenital lact" by David B Beck, Kristina Cusmano-Ozog et al.
 

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

Comments

Reproduced with permission of IOS Press. Translational Science of Rare Diseases

Creative Commons License

Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial 4.0 License

Peer Reviewed

1

Open Access

1

Plum Print visual indicator of research metrics
PlumX Metrics
  • Citations
    • Citation Indexes: 5
  • Usage
    • Downloads: 71
    • Abstract Views: 18
  • Captures
    • Readers: 10
see details

Share

COinS