Three Cases of Mitochondrial Disorders in the Neonatal Period.

Kim,  Yoon Hee; Lee,  Young Mock; Namgung,  Ran; Kim,  Jeong Eun; Lee,  Soon Min; Park,  Kook In; Kim,  Se Hoon; Lee,  Jin Sung

doi:2010.17.2.254

Neonatal Med > Volume 17(2); 2010 > Article

Case Report

Journal of the Korean Society of Neonatology 2010;17(2):254-261.
DOI: https://doi.org/10.5385/jksn.2010.17.2.254 Published online November 15, 2010.

Three Cases of Mitochondrial Disorders in the Neonatal Period.

Yoon Hee Kim, Young Mock Lee, Ran Namgung, Jeong Eun Kim, Soon Min Lee, Kook In Park, Se Hoon Kim, Jin Sung Lee

¹Department of Pediatrics, College of Medicine, Yonsei University, Seoul, Korea. ranng@yuhs.ac
²Department of Pathology, College of Medicine, Yonsei University, Seoul, Korea.
³Department of Clinical Genetics, College of Medicine, Yonsei University, Seoul, Korea.

Abstract

Little is known about neonatal mitochondrial disease, though mitochondrial metabolic disorders may often present in the neonatal period because of the high energy requirement of neonate. In newborn period, common presentations are not specific and the disease course may be rapid and fatal. In this study, we report three cases of neonatal mitochondrial disease. The first case was strongly suspected because of sudden seizure and mental change with severe lactic acidosis, and multiorgan failure. Plasma lactate/pyruvate (L/P) ratio was increased to 55.6 with marked lactic aciduria and increased plasma alanin up to 2,237 nmol/mL. In the second patient, a peritoneal dialysis was performed for acute adrenal and renal failure, but metabolic acidosis persisted. Plasma L/P ratio was increased to 23.9, and MRC I (mitochondrial respiratory chain defect) was diagnosed through the enzymatic analysis of the muscles. The third case showed repetitive episode of lactic acidosis during the first two months of life, hypotonia, failure to thrive and feeding difficulties. We found markedly increased cerebrospinal fluid L/P ratio up to 57 though plasma L/P ratio (19.4) was borderline with increased plasma lactate. The lactate peak was prominent in brain magnetic resonance spectroscopy (MRS). MRC II was confirmed through muscle biopsy. Plasma lactate level and lactate peak of brain MRS were normalized after conservative treatment.

Key Words: Infant; Newborn; Mitochondrial diseases; Acidosis; Lactic