1/84. Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.patients with long-chain 3-hydroxyacyl-coa dehydrogenase (LCHAD) deficiency present with a Reye-like syndrome, cardiomyopathy, or sudden unexpected death. We describe an unusual presentation in a patient with unsuspected LCHAD deficiency. The proband presented at 2 months of age with an acute infantile hypocalcaemia and vitamin d deficiency associated with occult, unexplained cholestatic liver disease. Sudden, unexpected death occurred at 8 months. Molecular analysis revealed homozygosity for the prevalent LCHAD (1528G > C, E474Q) mutation. The mother had pre-eclampsia during the third trimester of her pregnancy. In a subsequent pregnancy, she developed severe acute fatty liver of pregnancy (AFLP) and intrauterine fetal death at 33 weeks of gestation. In conclusion, infantile hypocalcaemia is an unusual phenotype associated with LCHAD deficiency. The maternal pregnancy history documents that fetal LCHAD deficiency is associated with a spectrum of maternal illnesses ranging from pre-eclampsia to life-threatening AFLP.- - - - - - - - - - ranking = 1keywords = pregnancy, gestation (Clic here for more details about this article) |
2/84. Acute jaundice in pregnancy: acute fatty liver or acute viral hepatitis?In this case, the difficulty in differential diagnosis between acute viral hepatitis and acute fatty liver of pregnancy was analyzed. These 2 conditions often raise controversal question regarding the decision making on emergency anesthesia for cesarean section to avert complications and optimize management. The dilemma in which an anesthesiologist is put is whether to promise the anesthesia straightaway in the face of a demonstrable acute jaundice in pregnancy to advise a postponement of surgery until a turn for the better. In this embarrassing situation, the authors suggest that a postpronement of surgery is rational to observe the development during which both the mother and the fetus should be closely monitored. Once the necessity of a cesarean section outweighs the benefit of transitional conservative treatment, it should be performed immediately.- - - - - - - - - - ranking = 0.74708574352455keywords = pregnancy (Clic here for more details about this article) |
3/84. Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy.The spectrum of clinical presentation of fatty acid oxidation defects (FAOD) continues to expand. One FAOD, L-3-hydroxyacyl-coa dehydrogenase (LCHAD) deficiency has been associated with liver disease in pregnancies involving a heterozygous mother carrying an affected fetus. Hepatic carnitine palmitoyltransferase (CPT I) deficiency typically presents as a Reyelike syndrome in children between 8 and 18 mo. of age. We have investigated a family in which the mother developed liver disease consistent with acute fatty liver of pregnancy (AFLP) and hyperemesis gravidarum in her two successive pregnancies. Neither child nor their mother was found to carry the common LCHAD G1528C mutation. Both children were subsequently shown to have absent activity of CPT I. This is the first report of CPT I deficiency presenting as maternal illness in pregnancy.- - - - - - - - - - ranking = 0.74708574352455keywords = pregnancy (Clic here for more details about this article) |
4/84. Acute fatty liver in the second trimester.BACKGROUND: Acute fatty liver of pregnancy is a rare, potentially fatal disease that occurs in the late third trimester or early postpartum period. The case of a woman with acute fatty liver in the second trimester is presented. CASE: A 35-year-old woman, gravida 5, para 4, presented at 22 weeks' gestation with nausea, vomiting, malaise, weight loss, and moderately elevated liver transaminase levels. The differential diagnoses included viral gastroenteritis and cholelithiasis. During the next 12 days, her transaminase levels increased, jaundice developed, her sensorium changed, and coagulopathy appeared. After the patient was transferred to a tertiary care hospital, acute fatty liver of pregnancy was diagnosed. The woman rapidly improved after delivery. CONCLUSION: Although acute fatty liver of pregnancy usually occurs in the late third trimester or early postpartum period, it can occur in the second trimester.- - - - - - - - - - ranking = 0.37742854706288keywords = pregnancy, gestation (Clic here for more details about this article) |
5/84. Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation.We report five families with trifunctional protein deficiency in which, during pregnancy, three mothers experienced significant hepatic disease when carrying an affected fetus. Diagnoses were based on increased levels of long-chain hydroxyacylcarnitines and deficiencies of 3-hydroxyacyl-coa dehydrogenase (LCHAD) and 3-ketoacyl-CoA thiolase activity in fibroblasts. All affected infants lacked the common E474Q mutation associated with isolated LCHAD deficiency. This mutation is thought to be a predisposing factor for maternal hepatic disease in pregnancy. Our findings suggest that other defects in this enzyme complex might be responsible for maternal hepatic complications in pregnancy.- - - - - - - - - - ranking = 0.87160003411197keywords = pregnancy (Clic here for more details about this article) |
6/84. Acute fatty liver of pregnancy showing microbial infection in the liver.A 24-year-old, nulliparous woman in her 30th week of pregnancy was admitted due to threatened premature delivery. Ritodrin chloride relieved the premature contraction of the uterus but jaundice and drowsiness appeared 7 weeks later. Laboratory data revealed disseminated intravascular coagulation (DIC) with intrahepatic cholestasis, and ultrasound examination showed fatty liver. The patient was diagnosed with acute fatty liver of pregnancy (AFLP). Emergency delivery by Caesarean section was performed at 37 weeks of pregnancy and the liver function and DIC improved immediately. Liver biopsy 13 days after delivery showed nuclear swelling and cytoplasmic ballooning with mild fatty deposition. These findings were relatively compatible with acute AFLP. Higher magnification and electron microscopy revealed intracytoplasmic bacteria and fungus in the residual stage. The bacterial infection could be considered related to AFLP.- - - - - - - - - - ranking = 0.87160003411197keywords = pregnancy (Clic here for more details about this article) |
7/84. Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme a dehydrogenase deficiency.There is a correlation between pregnancy complications such as acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme a dehydrogenase (LCHAD) deficiency. We diagnosed another fatty acid beta-oxidation defect, short-chain acyl-coenzyme a dehydrogenase deficiency, in an infant when evaluating him because his mother had acute fatty liver of pregnancy. Other beta-oxidation defects, in addition to LCHAD deficiency, should be considered in children born after pregnancies complicated by liver disease.- - - - - - - - - - ranking = 0.87160003411197keywords = pregnancy (Clic here for more details about this article) |
8/84. perioperative care of a patient with acute fatty liver of pregnancy.Acute fatty liver of pregnancy (AFLP) is a late gestational complication with biochemical similarities to the inherited disorders of mitochondrial fatty acid oxidation and clinical similarities to fulminant hepatic failure. The following case illustrates our perioperative management of this rarely encountered disorder.- - - - - - - - - - ranking = 0.62645712823773keywords = pregnancy, gestation (Clic here for more details about this article) |
9/84. prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changes.We report the occurrence of multiple acyl-CoA dehydrogenase deficiency (MADD) in two consecutive pregnancies in a young, Caucasian, non-consanguineous couple. In the first pregnancy, the maternal serum alpha-fetoprotein was elevated. A sonogram showed growth delay, cystic renal disease, and oligohydramnios; the parents decided to terminate the pregnancy. Postmortem examination confirmed the cystic renal disease and showed hepatic steatosis, raising the suspicion of a metabolic disorder. The diagnosis of MADD was made by immunoblot studies on cultured fibroblasts. In the subsequent pregnancy, a sonogram at 15 weeks' gestation showed an early growth delay but normal kidneys. The maternal serum and amniotic fluid concentrations of alpha-fetoprotein were elevated, and the amniotic fluid acylcarnitine profile was consistent with MADD. in vitro metabolic studies on cultured amniocytes confirmed the diagnosis. A follow-up sonogram showed cystic renal changes. These cases provide additional information regarding the evolution of renal changes in affected fetuses and show a relationship with elevated alpha-fetoprotein, which may be useful in counseling the couple at risk. MADD should be considered in the differential diagnosis of elevated alpha-fetoprotein and cystic renal disease. Early growth delay may be an additional feature.- - - - - - - - - - ranking = 0.37742854706288keywords = pregnancy, gestation (Clic here for more details about this article) |
10/84. Acute fatty liver of pregnancy complicated with anterior pituitary insufficiency.Acute fatty liver of pregnancy complicated with anterior pituitary insufficiency in a 24-year-old nullipara woman who presented fever and progressing liver damage after the delivery by cesarean section is described. The liver biopsy revealed severe fatty changes with microvesicular fat drops in the hepatocytes. serum growth hormone and adrenocorticotropic hormone levels were low, and did not respond to the stimulation. The daily urinary excretion of 17-hydroxycorticosteroid was also low. Acute fatty liver of pregnancy and antehypophyseal insufficiency were diagnosed. Secondary adrenal failure was also suspected. The co-existing hypercoagulable state could cause an ischemic attack on the pituitary gland.- - - - - - - - - - ranking = 0.74708574352455keywords = pregnancy (Clic here for more details about this article) |
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