Orthotopic liver transplantation for mitochondrial respiratory chain disorders: A study of 5 children

Background Liver involvement in mitochondrial respiratory chain disorders ( MRCD) frequently ends in liver failure and death. Because of the high risk of extrahepatic, particularly neuromuscular, manifestations of the disease, the indication of orthotopic liver transplantation (OLT) in these patients remains controversial. Fire report on 5 such children in whom OLT was carr ied out, in an attempt to help clarify the matter. Patients. Patients 1 and 2 presented with fulminant liver failure at ages 7 and 6 months respectively. Emergency liver transplantation was performed b efore etiological investigations were completed, Retrospective examination of the explanted livers showed defects in complexes I, III and IV. In patie nt 1, severe neurological deterioration occurred 2 months after OLT with fa tal outcome 9 months later. Patient 2 is alive 22 months after OLT with mod erate motor impairment. Patients 3, 4 and 5 presented with progressive live r failure before 6 months of age. Surgical liver biopsies displayed a 50% d efect in complex IV (patient 3), a defect in complexes I, IV (patient 4) an d in complexes I, III, TV (patient 5), Because there was no clinical extrah epatic involvement on investigations, OLT was carried out in these patients . Patient 3 died of multiple organ failure soon after OLT, patients 4 and 5 are alive respectively 21 months and 12 months after OLT with normal neuro logical examination. Conclusion, OLT may be a valid therapeutic option in infants with delayed l iver cell failure due to MRCD, only after performing in emergency a thoroug h investigation to exclude clinically significant extrahepatic, especially neuromuscular, involvement.