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 language | English (US) |
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Article number | 664278 |
Journal | Frontiers in Genetics |
Volume | 12 |
DOIs | |
State | Published - Jun 14 2021 |
Funding
BPC and DCK are principal investigators in the Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital. The Institute is generously supported by the Nationwide Foundation Pediatric Innovation Fund.
Keywords
- case report
- mitochondria DNA depletion
- polymerase gamma
- pulmonary hypertension
- whole exome sequencing
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
- Molecular Medicine