1/42. Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome.BACKGROUND/AIMS: Pearson's marrow-pancreas syndrome consists of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreas dysfunction. patients with this disease usually have large deletions of the mitochondrial genome. We report a patient with Pearson's syndrome who had predominantly hepatic manifestations such as microvesicular steatosis, hemosiderosis and rapidly developing cirrhosis. methods: Analysis of the mitochondrial and nuclear genomes, determination of enzyme activities and of the hepatic iron content were performed using standard techniques of molecular biology and biochemistry. RESULTS: The patient had typical ringed sideroblasts in a bone marrow smear and a 7436-bp deletion of the mitochondrial genome in all tissues investigated, compatible with Pearson's syndrome. He died within 3 months after birth due to liver failure. Histopathological analysis of the liver revealed complete cirrhosis with signs of chronic cholestasis, microvesicular steatosis and massive hemosiderosis. In addition, the patient was heterozygous for the C282Y and H63D mutations of the hemochromatosis gene. CONCLUSIONS: Pearson's syndrome should be added to the list of neonatal diseases which can cause microvesicular steatosis, hepatic accumulation of iron and liver cirrhosis.- - - - - - - - - - ranking = 1keywords = cholestasis (Clic here for more details about this article) |
2/42. 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 = 4keywords = cholestasis (Clic here for more details about this article) |
3/42. 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 = 1keywords = cholestasis (Clic here for more details about this article) |
4/42. Severe cholestatic hepatitis from troglitazone in a patient with nonalcoholic steatohepatitis and diabetes mellitus.Troglitazone is currently approved for the treatment of diabetes mellitus. Hepatic abnormalities have been reported in up to 1.9% of patients receiving the drug. Severe hepatotoxicity, including the need for liver transplantation, has also been reported in patients treated with troglitazone. Troglitazone has been reported to be beneficial in a small group of patients with nonalcoholic steatohepatitis (NASH). We present a patient with nonalcoholic steatohepatitis and diabetes mellitus who developed severe cholestasis after treatment with troglitazone. The exact mechanism of troglitazone toxicity is unknown, and whether preexisting liver abnormalities increase the incidence of toxicity is speculative. Further data are needed before more widespread use of troglitazone can be recommended for patients with nonalcoholic steatohepatitis.- - - - - - - - - - ranking = 1keywords = cholestasis (Clic here for more details about this article) |
5/42. Lipid-rich clear-cell hepatocellular carcinoma arising in non-alcoholic steatohepatitis in a patient with diabetes mellitus.A case of lipid-rich clear-cell hepatocellular carcinoma arising in non-alcoholic steatohepatitis is described in a patient with diabetes mellitus. The patient was a 67 year-old Japanese female with a history of tuberculosis, appendicitis, ischaemic heart disease, and non-insulin-dependent diabetes mellitus. The patient denied alcohol consumption. A liver mass was diagnosed as hepatocellular carcinoma of clear-cell type with early cirrhosis of the peri-tumoral liver tissue. Tumour cells had clear cytoplasm containing lipid droplets, and mallory bodies. Surrounding non-tumoral liver tissue also showed lipid, and fibrosis in peri-portal areas with moderate bridging fibrosis. The features were consistent with clear-cell hepatocellular carcinoma arising in the fibrosis of non-alcoholic steatohepatitis. By electron microscopy, tumour cells had lipid droplets, glycogen, swollen mitochondria, rough endoplasmic reticulum, mallory bodies, small bile canaliculi, desmosomes and gap junctions. Surrounding non-tumoral hepatocytes had a largely normal ultrastructure with prominent glycogen and lipid droplets. Clear-cell hepatocellular carcinoma within non-alcoholic steatohepatitis associated with diabetes mellitus is an extremely rare condition, and this report provides a detailed histopathological description with both immunohistochemical and ultrastructural data.- - - - - - - - - - ranking = 0.00098010305775954keywords = bile (Clic here for more details about this article) |
6/42. Rapid MRI using a modified Dixon technique: a non-invasive and effective method for detection and monitoring of fatty metamorphosis of the liver.fatty liver and non-alcoholic steatohepatitis are frequently associated with obesity. weight loss is the mainstay of therapy for these conditions. In this case report, we used a modification of the Dixon method to demonstrate normalization of hepatic fat content in an obese individual with fatty liver following weight reduction. This technique involves fast gradient echo instead of spin echo, which has been utilized previously, as the former provides an accurate and more rapid means of assessing hepatic fat content. This technique is recommended for the assessment of hepatic steatosis in at-risk subjects.- - - - - - - - - - ranking = 0.00019350649749993keywords = duct (Clic here for more details about this article) |
7/42. Focal fatty liver after pancreaticoduodenectomy: a case report of a rare entity of intrahepatic tumor.Diffuse fatty degeneration often occurs after pancreaticoduodenectomy due to altered lipid metabolism and nutritional malabsorption. Focal fatty change of the liver is characterized by a well-demarcated region, and the pathogenesis remains unclear. A 60-year-old woman underwent pancreaticoduodenectomy for bile duct cancer 10 years before. During follow-up, an intrahepatic tumor was detected in the lateral segment in the liver. The differential diagnosis included cholangiocarcinoma and metastatic tumor on images of plain computed tomography, ultrasonography, and magnetic resonance angiography. The patient underwent lateral segmentectomy of the liver. The tumor was a soft yellow mass, and histological examination indicated focal fatty liver. It was thought that the fatty liver was caused by localized low blood supply and dysabsorption of lipoprotein after pancreaticoduodenectomy.- - - - - - - - - - ranking = 0.0050864019392529keywords = bile duct, bile, duct (Clic here for more details about this article) |
8/42. Idiopathic hyperammonemia following an unrelated cord blood transplant for mucopolysaccharidosis i.bone marrow transplantation (BMT) has been shown to reverse or stabilize some manifestations of mucopolysaccharidosis i (Hurler syndrome). Idiopathic hyperammonemia (IHA) is a rare complication of solid organ and BMT that is characterized by elevated serum ammonia, normal liver enzymes, and abrupt onset of neurologic deterioration. We present the case of a 14-month-old male patient with Hurler syndrome who developed fatal IHA (ammonia = 2297 micromol/L) 31 days after a cord blood transplant. A complete autopsy was performed, with examination of both frozen and formalin-fixed paraffin-embedded (FFPE) tissues using a variety of special stains and electron microscopy. hyperammonemia was documented by analysis of antemortem serum and postmortem cerebrospinal and vitreous fluid. Other causes of hyperammonemia, including reye syndrome, were excluded. Histologic changes included centrilobular microvesicular steatosis of the liver and storage product present in multiple organs. The highly water-soluble mucopolysaccharide (MPS) storage product was best identified by colloidal iron staining of FFPE and unfixed air-dried fresh frozen liver sections. alcian blue stains failed to convincingly demonstrate MPS in any of the liver sections. This is the first published report, to our knowledge, of IHA in a posttransplant patient younger than 18 years old or following transplantation for Hurler syndrome. Demonstration of the hepatic centrilobular microvesicular steatosis characteristic of IHA was complicated by the diffuse storage of MPS within the liver. MPS storage can be best detected in the liver using colloidal iron staining. Oil-red-O staining may be useful to document microvesicular steatosis in cases with a clinical history of hyperammonemia following solid organ or BMT. Determining if certain subsets of children are at increased risk for IHA requires further study.- - - - - - - - - - ranking = 0.00038701299499986keywords = duct (Clic here for more details about this article) |
9/42. Orlistat in the treatment of NASH: a case series.Nonalcoholic steatohepatitis is now recognized as a common chronic liver disorder. Up to 16% of affected patients may progress to cirrhosis. The incidence and prevalence of this disease are noted to be increasing, in parallel with the nationwide increase in obesity and diabetes. Treatment options for these patients remain quite limited, however. Weight reduction has been advocated, but there are little data to support this practice, as most patients are unable to comply with the proper dietary modifications. We report three obese patients with biopsy-proven nonalcoholic steatohepatitis treated for 6-12 months with a weight reduction medication, orlistat, who lost between 22-42 lb, and had significant clinical and histopathological improvement on follow-up.- - - - - - - - - - ranking = 0.00038701299499986keywords = duct (Clic here for more details about this article) |
10/42. Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation.BACKGROUND/AIMS: Progressive familial intrahepatic cholestasis characterized by normal serum gamma-glutamyltransferase activity can be due to mutations in familial intrahepatic cholestasis type 1 (FIC1) (ATP8B1), a gene expressed in several organs. In some cases, it is associated with extrahepatic features. We searched for FIC1 mutations and analyzed the outcome of extrahepatic features after liver transplantation in two children with this form of progressive familial intrahepatic cholestasis associated with chronic unexplained diarrhea and short stature. methods: FIC1 sequence was determined after polymerase chain reaction (PCR) of genomic lymphocyte dna and/or reverse transcription-PCR of liver or lymphocyte rna. RESULTS: A homozygous amino acid change deletion was found in one child. The second child harboured compound heterozygous missense and nonsense mutations. In both children, despite successful liver transplantation, evolution (follow-up: 9.5-11 years) was characterized by exacerbation of diarrhea and no catch-up of stature growth, and appearance of liver steatosis. CONCLUSIONS: Progressive familial intrahepatic cholestasis characterized by normal serum gamma-glutamyltransferase activity and extrahepatic features corresponds to progressive familial intrahepatic cholestasis type 1. Extrahepatic symptomatology is not corrected or may be aggravated by liver transplantation, impairing life quality.- - - - - - - - - - ranking = 14.157190879549keywords = cholestasis, extrahepatic (Clic here for more details about this article) |
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