Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction

David B Beck; Kristina Cusmano-Ozog; Nickie Andescavage; Eyby Leon

doi:10.3233/TRD-180020

Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction

Transl Sci Rare Dis. 2018 Apr 13;3(1):45-48. doi: 10.3233/TRD-180020.

Authors

David B Beck¹, Kristina Cusmano-Ozog², Nickie Andescavage³, Eyby Leon²

Affiliations

¹ National Human Genome Research Institute, National Institute of Health, Bethesda, MD, USA.
² Children's National Health System, Rare Disease Institute, Genetics and Metabolism, Washington, DC, USA.
³ Children's National Health System, Pediatrics, Neonatology, Washington, DC, USA.

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 AGK, c.979A > T; p.K327^*. In addition to the canonical features of Sengers syndrome, our patient is the first reported case with liver dysfunction extending the phenotypic spectrum both in terms of severity and complications. This case also highlights the importance of maintaining a broad differential for congenital lactic acidosis.

Keywords: AGK; Congenital lactic acidosis; Sengers syndrome; acylglycerol kinase.