Author/Authors :
Kim, Ju Hee Department of Pediatrics - CHA Bundang Medical Center - CHA University, Seongnam, Korea , Kim, Hye-Rim Department of Pediatrics - CHA Bundang Medical Center - CHA University, Seongnam, Korea , Jang, Ja Hyun Department of Laboratory Medicine - Green Gross Genome, Yongin, Korea , Jo, Heui Seung Department of Pediatrics - CHA Bundang Medical Center - CHA University, Seongnam, Korea , Lee, Kyu Hyung Department of Pediatrics - CHA Bundang Medical Center - CHA University, Seongnam, Korea
Abstract :
Introduction: Pyruvate dehydrogenase complex deficiency (PDHD) is a rare genetic mitochondrial disorder that is characterized
by the broad clinical manifestations from lactic acidosis in neonate to chronic neurodegenerative conditions. Incidence and prevalence
of PDHD are unknown because of early lethality and difficulty of diagnosis.
Case Presentation: We report a case of preterm male infant born at 31 + 3/7 weeks gestation with a birth weight of 1,310 g by cesarean
section. He presented with scoliosis, polydactyly and severe metabolic acidosis at birth. Corpus callosum agenesis and increased
parenchymal echogenicity were detected by cranial ultrasound. Pyruvate and lactate in blood and CSF were elevated, and
lactate-pyruvate ratio was normal. Next-generation sequencing (NGS) technique identified a novel PDHA1 mutation, c.1157-1162del
(p.Phe386Lys387del) on X chromosome in him and his mother.
Conclusions: PDHD is a rare and fatal disease in case of neonatal onset. This case demonstrates early diagnosis of PDHD in preterm
infant using NGS technique.
