[Acute fatty liver in pregnancy: revealing fetal fatty acid oxidation disorders].
Acute fatty liver of pregnancy (AFLP) and hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome are serious maternal illnesses occurring in the third trimester of pregnancy with significant perinatal and maternal mortality. AFLP may result from mitochondrial defects in the beta-oxidation of fatty acids, in particular a deficiency of the long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) in the fetus. Clinical findings in AFLP vary and its diagnosis is complicated by a significant overlap in clinical and biochemical features with HELLP syndrome. We report the case of 2 siblings who died, the first one in the neonatal period of asphyxia with multivisceral presentation and the second one from sudden death at 7 months. Autopsy of the latter infant revealed hepatic steatosis associated with cardiomyopathy, which led to suspicion of a fatty acid oxidation deficiency. Mutation analysis demonstrated that both children were homozygous for the common mutation c.1528G>C and the parents were heterozygous for this same mutation. This case demonstrates the importance of screening mothers with acute fatty liver disease of pregnancy and their children at birth for a metabolic disease. This article proposes several metabolic tests for mother and child suspected of having beta-oxidation of a fatty acid disorder.
Unité de réanimation pédiatrique, hôpital Pellegrin-Enfants, CHU Pellegrin, place Amélie-Raba-Léon, 33076 Bordeaux-cedex, France. delphine.lamireau@chu-bordeaux.fr
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Lamireau
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Feghali
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Redonnet-Vernhet
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Mesli
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Carles
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Brissaud
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency* / Q000235:genetics; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005234:Fatty Liver / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005808:Genes, Recessive; D017359:HELLP Syndrome / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D063991:Mitochondrial Trifunctional Protein; D009097:Multienzyme Complexes / Q000235:genetics*; D011247:Pregnancy; D013398:Sudden Infant Death / Q000473:pathology
D009097:Multienzyme Complexes; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D063991:Mitochondrial Trifunctional Protein