1/27. Tyrosinemia type 1 should be suspected in infants with severe coagulopathy even in the absence of other signs of liver failure.Tyrosinemia type l is an inherited metabolic disorder attributable to deficiency of fumarylacetoacetate hydrolase, a terminal enzyme in the degradation pathway of tyrosine. Affected individuals may present with any of a number of signs and symptoms, including failure to thrive, fever, vomiting, diarrhea, hepatomegaly, ascites, jaundice, renal fanconi syndrome, or conditions such as rickets and hepatocellular carcinoma.1 If untreated, the patient may die of acute liver failure before the second year of life, or from chronic liver failure or hepatocellular carcinoma before the end of the second decade of life.2 Although overt liver failure with coagulopathy may be part of the presentation of tyrosinemia, a significant coagulopathy in the absence of overt signs of liver disease has not been emphasized as a clue to the diagnosis of this condition. We report two tyrosinemic infants who presented with severe coagulopathies and no other signs of liver failure to stress this diagnostic point.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
2/27. "The silent killer": chronic acetaminophen toxicity in a toddler.We report a case fatality from chronic acetaminophen (APAP) toxicity in an 18-month-old toddler, born 14 weeks premature, who had been receiving less than the standard toxic threshold of the pediatric suspension of APAP for 4 days prior to presentation. Furthermore, he had been on prolonged total parenteral nutrition (TPN) as an infant. We hypothesize that TPN-induced hepatic changes may have diminished the patient's hepatic reserve, making him more susceptible to APAP toxicity. We propose that different "therapeutic" APAP dosing may be needed for those with underlying risk factors for hepatotoxicity.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
3/27. peliosis hepatis with initial presentation as acute hepatic failure and intraperitoneal hemorrhage in children.peliosis hepatis, a condition characterized by the presence of blood-filled lacunar spaces in the liver, usually has a chronic presentation pattern and is mainly reported in adult patients in association with chronic wasting disorders and after administration of various drugs. The present report concerns two previously healthy young children in whom peliosis hepatis initially presented as acute hepatic failure and who had escherichia coli pyelonephritis. Both patients had active intraperitoneal hemorrhage from the peliotic liver lesions, and liver ultrasonography showed multiple hypoechoic areas of different sizes, which in this context should suggest the diagnosis. One child died from hypovolemic shock and the other recovered. This study indicates that acute peliosis hepatis can be a serious life-threatening disease in children.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
4/27. Fulminant hepatic failure as a presenting paraneoplastic manifestation of Hodgkin's disease.Malignancies may uncommonly present as fulminant hepatic failure and, due to the rarity of such an occurrence, they may easily be overlooked as one of its possible causes. An unusual case of Hodgkin's disease presenting as a fulminant hepatic failure is reported. A 34-year-old man presented with an acute onset of liver failure characterized by jaundice, ascites, encephalopathy and bleeding diathesis. Chemotherapy was initiated, resulting in a dramatic improvement not only in the patient's level of consciousness, but also in prothrombin time. Unfortunately, he succumbed shortly after to disseminated candidiasis. A post-mortem needle liver sample revealed massive hepatocellular necrosis, but no liver infiltration by the neoplastic disease. We conclude that in Hodgkin's disease, involvement of the liver can be manifested as a syndrome of paraneoplastic fulminant hepatic failure. In such cases, liver transplantation is an absolute contraindication but urgent chemotherapy under antifungal surveillance can be life saving.- - - - - - - - - - ranking = 32.765755053508keywords = sample (Clic here for more details about this article) |
5/27. Oral absorption of tacrolimus in children with intestinal failure due to short or absent small bowel.We describe two children with intestinal failure due to short or absent small bowel who underwent isolated liver transplantation for liver disease related to parenteral nutrition. Both received reduced-size liver grafts whilst awaiting a suitable small bowel donor. Immunosuppressive therapy was based on oral tacrolimus and intravenous steroids. Therapeutic levels of tacrolimus were achieved at low dosage of 0.14-0.28 mg/kg per day. Median and mean blood tacrolimus levels were 9.9 and 13.7 ng/ml (range 4.9-42.3 ng/ml) in case 1 and 5.8 and 7.2 ng/ml (range 1-30 ng/ml) in case 2 before small bowel transplantation, respectively. Following small bowel transplantation, levels were 17.1 and 20.1 ng/ml (range 9.2-30 ng/ml), with oral doses of 0.54-1.35 mg/kg per day. Both children died of adenovirus pneumonia, with functioning grafts. Our experience demonstrates that effective levels of immunosuppression can be achieved by oral administration of tacrolimus in children with short or absent small bowel.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
6/27. Cutaneous porphyria in a neonate with tyrosinaemia type 1.A term infant born to consanguineous parents presented at birth with hypoglycaemia, thrombocytopenia, coagulopathy and hyperbilirubinaemia associated with polycythaemia due to delayed cord clamping. Despite phototherapy and correction of polycythaemia by partial exchange transfusion, coagulopathy, hypoglycaemia and conjugated hyperbilirubinaemia persisted, suggesting hepatic failure. Metabolic work-up led to the diagnosis of tyrosinaemia type 1 on day 4. Two--(2-nitro-4-trifluoromethylbenzoyl)--1,3 cyclohexanedione (NTBC) treatment, started on day 5, resulted in progressive clinical improvement and unambiguous biochemical response. Severe skin purpuric lesions occurred in areas exposed to phototherapy. These resolved slowly after its discontinuation. urine analysis sampled just before and 6 days after starting NTBC treatment showed high levels of type 1 coproporphyrin isomers. Such findings do not seem directly related to tyrosinaemia type 1 where succinylacetone inhibits delta-aminolevulinic acid (delta-ALA) dehydratase and where the accumulation of delta-ALA results in neurotoxicity without photosensitivity. CONCLUSION: We describe a cutaneous form of porphyria in a neonate presenting with severe liver failure due to tyrosinaemia type 1. This porphyria is tentatively attributed to a secondary accumulation of coproporphyrins due to cholestasis, as reported in the bronze baby syndrome and recently described in neonates with purpuric phototherapy-induced eruption, rather than to a primary defect of porphyrin metabolism. The hypothesis of a direct effect of tyrosinaemia type 1 on porphyrin excretion is also discussed.- - - - - - - - - - ranking = 32.765755053508keywords = sample (Clic here for more details about this article) |
7/27. End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency: no contra-indication for liver transplantation.The prerequisite for liver transplantation as a therapeutic option for inherited metabolic diseases should be that the enzyme defect, being responsible for the major clinical (hepatic and/or extra-hepatic) abnormalities, is localised in the liver. Furthermore, no adequate dietary or pharmacological treatment should be available or such treatment should have an unacceptable influence on the quality of life. We report an infant, who developed end-stage liver disease with persistent lactic acidaemia in his first months of life. Analysis of the mitochondrial respiratory chain in liver tissue revealed a combined partial complex I and IV deficiency. No extra-hepatic involvement could be demonstrated by careful screening for multiple organ involvement, including analysis of the mitochondrial respiratory chain in muscle tissue and cultured skin fibroblasts. The boy received a reduced size liver graft at the age of 8 months. He recovered successfully. Almost 5 years after transplantation he is in good clinical condition. No clinical or biochemical signs of any organ dysfunction have been demonstrated. The considerations on which basis it was decided that there was no contra-indication to perform liver transplantation in this patient are discussed. CONCLUSION: The possibility of a mitochondrial respiratory chain deficiency should be considered in liver disease of unknown origin prior to liver transplantation. liver transplantation is a therapeutic option in mitochondrial respiratory chain deficiency-based end-stage liver disease provided that extra-hepatic involvement is carefully excluded.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
8/27. Fatal liver failure after the administration of raltitrexed for cancer chemotherapy: a report of two cases.BACKGROUND: Acute fatal liver failure is a relatively rare event after the administration of antineoplastic drugs. To the authors' knowledge, there have been no published reports of this phenomenon after the administration of the widely applied cytotoxic agent raltitrexed. methods: The authors present two cases of fulminant fatal liver failure that occurred after the administration of raltitrexed as anticancer chemotherapy. RESULTS: A female patient age 76 years and a male patient age 56 years were given raltitrexed as adjuvant treatment of colorectal carcinoma and as palliative therapy for advanced biliary carcinoma, respectively. Although the initial cycles of chemotherapy were uneventful, both patients developed fulminant liver failure with rapid deterioration of their condition after the second and sixth cycles of chemotherapy, respectively, and both died within 24 hours despite immediate hospitalization. Histologic evaluation of liver samples taken during autopsy showed signs of acute necrosis involving roughly 50% of the liver without signs of subacute liver toxicity. CONCLUSIONS: To the authors' knowledge the current study is the first to demonstrate fatal liver toxicity after chemotherapy with the thymidylate synthase inhibitor raltitrexed. Clinicians should be aware of the potential acute fatal side effect of this otherwise well tolerated and widely used cytotoxic agent.- - - - - - - - - - ranking = 32.765755053508keywords = sample (Clic here for more details about this article) |
9/27. Fulminant hepatitis type B after chemotherapy in a serologically negative hepatitis b virus carrier with acute myelogenous leukemia.We report a case of a 41-year-old man with acute myelogenous leukemia who developed fulminant hepatitis from reactivation of trace hepatitis b virus (HBV) 2 months after complete remission. Although he became positive for HB surface antigen at the onset of fulminant hepatitis, he had been negative for HBV serum markers, and only HBV dna was detected by polymerase chain reaction (PCR) amplification on admission. The original stocks of serum samples from all blood donors were tested again for HBV dna by PCR, and all samples were negative. This case demonstrates that testing for HBV dna by PCR is necessary before chemotherapy, because silent HBV carriers are rare and fulminant hepatitis may be induced by chemotherapy in patients with hematologic malignancies.- - - - - - - - - - ranking = 65.531510107015keywords = sample (Clic here for more details about this article) |
10/27. Electron microscopic detection of copper in the liver of two patients with morbus Wilson by eels and EDX.A 20-year-old male patient with morbus Wilson was liver transplanted because of terminal failure of liver function. The explanted liver showed a strong macronodular cirrhosis as typically seen in Wilson disease. There were visible granular accumulations in the hepatocytes after the rubeanic acid or rhodanine method for histochemical detection of copper. The electron microscopic studies on ultrathin sections revealed numerous electron-dense lysosomes and residual bodies. The elemental analysis in transmission electron microscope (TEM) with electron energy loss spectroscopy (eels) and in scanning electron microscope (SEM) with energy dispersive x-ray analysis (EDX) showed copper-specific signals of electron-dense accumulations inside these dark lysosomes and residual bodies. In a second case, Wilson disease was diagnosed after autopsy of a 31-year-old patient by liver electron microscopy and eels; strong electron-dense lysosomes and residual bodies with positive copper signals were found inside hepatocytes. For negative control, hepatocytes with iron accumulation after idiopathic hemochromatosis and liver cirrhosis were also analyzed by eels in TEM, which showed strong iron, but only a few or no copper signals. Atomic absorption spectroscopy (AAS) in 16 liver samples of healthy and cirrhotic liver revealed only in both cases of Wilson disease a strong increased copper concentration higher than 100 microg Cu/g. The electron microscopic detection of copper-containing hepatocytic lysosomes is helpful for the diagnosis of early stages of Wilson disease in addition to the quantification of hepatic copper by AAS.- - - - - - - - - - ranking = 32.765755053508keywords = sample (Clic here for more details about this article) |
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