Low Evonne, Crushell Ellen B, Harty Sinead B, Ryan Stephanie P, Treacy Eileen P
National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland.
Pediatr Neurol. 2008 Nov;39(5):368-70. doi: 10.1016/j.pediatrneurol.2008.07.023.
Mitochondrial respiratory chain deficiencies can present as fulminant liver failure or disease, and the prognosis when associated with severe neonatal lactic acidosis is frequently guarded. We report the case of a neonate who presented with acute liver failure and fulminant lactic acidosis with profound complex IV deficiency documented in muscle and liver biopsies. The neonate subsequently experienced clinical resolution by 3 months of age, and was observed to have reversibility of the biochemical deficiency noted in muscle. This case illustrates that resolution of this severe neonatal phenotype does occur, of importance for accurate prognostic and genetic counseling for such affected neonates.
