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. We report on 5 such children in whom OLT was carried out, in an attempt to help clarify the matter.
Patients 1 and 2 presented with fulminant liver failure at ages 7 and 6 months respectively. Emergency liver transplantation was performed before etiological investigations were completed. Retrospective examination of the explanted livers showed defects in complexes I, III and IV. In patient 1, severe neurological deterioration occurred 2 months after OLT with fatal outcome 9 months later. Patient 2 is alive 22 months after OLT with moderate motor impairment. Patients 3, 4 and 5 presented with progressive liver failure before 6 months of age. Surgical liver biopsies displayed a 50% defect in complex IV (patient 3), a defect in complexes I, IV (patient 4) and in complexes I, III, IV (patient 5). Because there was no clinical extrahepatic 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 neurological examination.
OLT may be a valid therapeutic option in infants with delayed liver cell failure due to MRCD, only after performing in emergency a thorough inves tigation to exclude clinically significant extrahepatic, especially neuromuscular, involvement.
Complications hépatiques de l’obésité Mas, E.; Broué, P.
Archives de pédiatrie : organe officiel de la Société française de pédiatrie,
20/May , Volume:
20, Issue:
5
Journal Article
Lithiase vésiculaire de l’enfant Rivet, C.; Broué, P.
Archives de pédiatrie : organe officiel de la Société française de pédiatrie,
05/2011, Volume:
18, Issue:
5
Journal Article
Medium-chain acyl-CoA deshydrogenase deficiency (MCADD) is the most frequent disorder of mitochondrial fatty acid oxidation (MFAO). We report a 3 year-old girl with enterovirus viremia who was ...referred after 36 hours of fasting with hypoketotic hypoglycemic coma and myolysis. Evolution was complicated by acute renal failure, increased serum levels of transaminases and hypoparathyroidism. Diagnosis of MCADD was supported by typical plasma acylcarnitine and urinary organic acid profiles, and confirmed by homozygosity for the common missense A985G mutation. Whereas myolysis is frequent in MFAO defects, it is rarely reported as a major accompanying sign in MCADD. Hypoparathyroidism has been previously reported in some MFAO deficiencies but has never been mentioned in association with MCADD. We review the possible mechanisms of hypoparathyroidism in MFAO deficiencies. Parathyroid glands and pancreas dysfunction should be screened in MFAO defects as these organs could be implicated in the clinical spectrum of the frequent A985G MCADD disease-causing mutation.
Congenital galactosaemia: an unusual presentation Marcoux, M O; Laporte-Turpin, E; Alberge, C ...
Archives de pédiatrie : organe officiel de la Société française de pédiatrie
12, Issue:
2
Journal Article
Peer reviewed
Congenital galactosaemia reveals usually in the second and third weeks of life with a severe liver dysfunction. We report on a case of congenital galactosaemia with, on the one hand, an early onset ...liver failure, without any free interval, and on the other hand, an hemophagocytic syndrome as a severe secondary outbreak with pulmonary haemorrhage. Appropriate diet led to normalisation of liver function. Hemophagocytosis, probably linked to an associated Klebsiella Pneumoniae sepsis, had a favourable outcome after antibiotic and corticosteroid therapy.
