1/11. 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 = 1keywords = metabolic disorder (Clic here for more details about this article) |
2/11. anorexia nervosa, diabetes mellitus, brain atrophy, and fatty liver.An increased number of diabetes mellitus cases followed by the development of anorexia nervosa have been reported. In this report, the opposite has been observed in the case of a patient with anorexia nervosa who later developed insulin-dependent diabetes mellitus, associated with brain atrophy and fatty liver. The patient was treated with insulin, amitriptylene, and behavior modification. Significant improvement was noted on this regimen.- - - - - - - - - - ranking = 0.00068739860165351keywords = brain (Clic here for more details about this article) |
3/11. Acute fatty liver of pregnancy: a case report.The third trimester of pregnancy has several unique disease entities that challenge the anesthetist. Acute fatty liver of pregnancy (AFLP) is an increasingly recognized metabolic disorder found late in pregnancy. Current research estimates the incidence of AFLP at 1 per 6,659 births. Improved maternal morbidity and mortality is credited to early recognition and termination of the pregnancy. The decline in hepatic cellular activity is evident by the deterioration in metabolic, synthetic, and excretory functions of the liver. This obstetrical emergency can lead to death of both mother and child if not diagnosed in time to prevent coagulopathic complications.- - - - - - - - - - ranking = 1keywords = metabolic disorder (Clic here for more details about this article) |
4/11. Acute fatty liver of pregnancy: an unusual presentation.We describe a case of acute fatty liver that developed during the third trimester of pregnancy. Acute fatty liver of pregnancy (AFLP) is a well-documented medical condition and is important due to its implications on maternal and fetal morbidity and mortality. AFLP is managed with supportive care and close surveillance is needed in patients with a previous history of this disease. Long-term sequelae such as brain damage may also occur. This case was unusual because the patient presented due to a co-incident uterine scar rupture and was subsequently diagnosed with AFLP. Although no association between scar rupture and AFLP has been reported in the scientific literature, the association of abdominal scar dehiscence and liver disease has been reported previously.- - - - - - - - - - ranking = 0.0001374797203307keywords = brain (Clic here for more details about this article) |
5/11. Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma.citrullinemia is a metabolic disorder characterized by elevated plasma concentrations of citrulline and ammonia. adult-onset citrullinemia (type II, CTLN2) has been attributed to citrin deficiency caused by mutations in the SLC25A13 gene. CTLN2 is associated with a high incidence of hepatocellular carcinoma (HCC) in Japanese. We report a 48-year-old Taiwanese man with citrullinemia, who was in good health until the age of 34 when he had repeated episodes of consciousness disturbance. Hyperammonia (201 micromol/L) was found during an episode of coma. Liver function and electrolyte levels were normal at that time. Serologic markers of viral hepatitis b and C were negative. Analysis of genomic dna extracted from peripheral blood leukocytes showed homozygous 851del4 mutation in exon 9 of the SLC25A13 gene on chromosome 7q21.3. Fourteen years after disease onset, at the age of 48, he was admitted due to an episode of coma. Abdominal sonography and computed tomography showed a 2.5 cm tumor in the left lobe of the liver, without evidence of liver cirrhosis. Wedge resection of the tumor was performed and grade 2 HCC was diagnosed. The nontumor part of the resected specimen showed chronic persistent hepatitis with moderate steatosis. The results in this case support that both citrin deficiency and steatohepatitis may contribute to hepatocarcinogenesis.- - - - - - - - - - ranking = 1keywords = metabolic disorder (Clic here for more details about this article) |
6/11. Orthotopic liver transplantation in patients with cystic fibrosis.An 11-year-old boy who had cystic fibrosis underwent an orthotopic liver transplantation. His immediate postoperative course was not unusually complicated when compared with other liver transplant recipients. Transplantation did not correct abnormalities in the sweat test or the respiratory disease. cholestasis due to obstruction of the recipient duct with tenacious bile was cleared by instilling N-acetylcysteine into the duct. On the 48th day after the transplantation, he died of an intraventricular and intracerebral hemorrhage caused by an aspergillus brain abscess. We conclude that certain patients with cystic fibrosis may be appropriate candidates for liver transplantation, but their pre- and post-operative management may need to differ from other liver transplant recipients.- - - - - - - - - - ranking = 0.0001374797203307keywords = brain (Clic here for more details about this article) |
7/11. Mitochondrial encephalomyopathy. A variant with heart failure and liver steatosis.We report the clinical and autopsy findings in a young man of 18 with a chronic progressive disorder comprised of lactic acidosis, mental deterioration, and epileptic seizures which were sometimes accompanied by stroke-like episodes with transient hemiparesis and cortical blindness. He died of congestive heart failure. The autopsy showed lesions of the gray matter of the brain. Both the putamen and parieto-occipital cortex showed loss of neurons and proliferation of macrophages, astrocytes and vessels. There was marked loss of neurons in the inferior olives, and slight reduction of the number of purkinje cells. Skeletal muscle studies revealed ragged-red fibers and structurally abnormal mitochondria. The heart was enlarged: accumulations of mitochondria occurred in the muscle fibers. The liver exhibited marked fatty degeneration. Biochemical analyses showed normal activities of pyruvate dehydrogenase in thrombocytes, pyruvate carboxylase in lymphocytes, biotinidase in serum as well as succinate dehydrogenase and cytochrome c oxidase. The features of this disorder differ in many respects from cases of mitochondrial encephalomyopathy previously reported and cannot be assigned to any specific disease entity.- - - - - - - - - - ranking = 0.0001374797203307keywords = brain (Clic here for more details about this article) |
8/11. Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.Fatal infantile mitochondrial myopathy with lactic acidosis, morphologically abnormal mitochondria, deficient cytochromes aa3 and b, and a Fanconi-like aminoaciduria has been described. We report two infants, second cousins, with a similar fatal mitochondrial disorder, the cytochrome deficiency limited to skeletal muscle in one child and to liver in the other. The first child at 3 months of age had weight loss, hypotonia, external ophthalmoplegia, and a severe lactic acidosis with a high lactate/pyruvate ratio. Electron microscopy of muscle showed marked proliferation of enlarged mitochondria, many containing concentric rings of cristae. In skeletal muscle mitochondria, cytochromes aa3 and b were not detectable but cytochrome cc was found to be normal by spectroscopy. Cytochrome c oxidase activity was less than 1% of normal. mitochondria from kidney, liver, heart, lung, and brain examined postmortem had normal cytochromes and preserved cytochrome c oxidase activity. The second cousin at 5 months of age had weight loss and hepatomegaly but no systemic lactic acidosis. Liver biopsy showed hepatocytes packed with enlarged mitochondria. The liver mitochondria showed deficient cytochromes aa3 and b postmortem, and cytochrome c oxidase activity was less than 10% of normal. kidney mitochondria had normal cytochromes. muscles was not studied. The mitochondrial abnormality in the two cousins presumably is related. Unexplained are the mode of genetic transmission or environmental exposure and the apparent involvement of a single different organ in each child.- - - - - - - - - - ranking = 0.0001374797203307keywords = brain (Clic here for more details about this article) |
9/11. Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels.Three children in two families presented in early childhood with episodes of illness associated with fasting which resembled Reye's syndrome: coma, hypoglycemia, hyperammonemia, and fatty liver. One child died with cerebral edema during an episode. Clinical studies revealed an absence of ketosis on fasting (plasma beta-hydroxybutyrate less than 0.4 mmole/liter) despite elevated levels of free fatty acids (2.6-4.2 mmole/liter) which suggested that hepatic fatty acid oxidation was impaired. Urinary dicarboxylic acids were elevated during illness or fasting. Total carnitine levels were low in plasma (18-25 mumole/liter), liver (200-500 nmole/g), and muscle (500-800 nmole/g); however, treatment with L-carnitine failed to correct the defect in ketogenesis. Studies on ketone production from fatty acid substrates by liver tissue in vitro showed normal rates from short-chain fatty acids, but very low rates from all medium and long-chain fatty acid substrates. These results suggested that the defect was in the mid-portion of the intramitochondrial beta-oxidation pathway at the medium-chain acyl-CoA dehydrogenase step. A new assay for the electron transfer flavoprotein-linked acyl-coa dehydrogenases was used to test this hypothesis. This assay follows the decrease in electron transfer flavoprotein fluorescence as it is reduced by acyl-CoA-acyl-CoA dehydrogenase complex. Results with octanoyl-CoA as substrate indicated that patients had less than 2.5% normal activity of medium-chain acyl-CoA dehydrogenase. The activities of short-chain and isovaleryl acyl-coa dehydrogenases were normal; the activity of long-chain acyl-CoA dehydrogenase was one-third normal. These results define a previously unrecognized inherited metabolic disorder of fatty acid oxidation due to deficiency of medium-chain acyl-CoA dehydrogenase.- - - - - - - - - - ranking = 1keywords = metabolic disorder (Clic here for more details about this article) |
10/11. Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys.We describe neonatal onset of a lethal multiorgan deficiency of carnitine palmitoyltransferase II (CPT II) associated with dysmorphic features, cardiomyopathy, and cystic dysplasia of the brain and kidneys. Concentrations of long-chain acylcarnitines were evaluated in blood and multiple tissues, diffuse lipid accumulation was present at autopsy, and a profound deficiency of CPT II activity was evident in heart, liver, muscle, and kidney tissue. This disorder constitutes another recognizable malformation syndrome with a metabolic basis. Deficiency of CPT II should be included in the differential diagnosis of patients with cystic renal dysplasia, dysmorphism, central nervous system malformations, and early death, along with glutaric acidemia type II, zellweger syndrome, and other disorders in which peroxisomal beta-oxidation is impaired. The clinicopathologic similarities among these disorders raise the possibility that a common biochemical mechanism, namely the disruption of beta-oxidation of fatty acids, is responsible for the abnormal organogenesis.- - - - - - - - - - ranking = 0.00068739860165351keywords = brain (Clic here for more details about this article) |
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