Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report

Andrew D. Franklin*, Bimal P. Chaudhari, Daniel C. Koboldt, Kerri Z. Machut

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

A 32-week premature infant presented with respiratory failure, later progressing to pulmonary hypertension (PH), liver failure, lactic acidosis, and encephalopathy. Using exome sequencing, this patient was diagnosed with a rare Polymerase Gamma (POLG)-related mitochondrial DNA (mtDNA) depletion syndrome. This case demonstrates that expanding the differential to uncommon diagnoses is important for complex infants, even in premature neonates whose condition may be explained partially by their gestational age (GA). It also shows that patients with complex neonatal diseases with significant family history may benefit from exome sequencing for diagnosis.

Original languageEnglish (US)
Article number664278
JournalFrontiers in Genetics
Volume12
DOIs
StatePublished - Jun 14 2021

Keywords

  • case report
  • mitochondria DNA depletion
  • polymerase gamma
  • pulmonary hypertension
  • whole exome sequencing

ASJC Scopus subject areas

  • Molecular Medicine
  • Genetics
  • Genetics(clinical)

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