1/46. Ferumoxide-enhanced MRI of sideronecrosis superimposed on genetic hemochromatosis.Genetic hemochromatosis is an autosomal recessive disorder characterized by excessive iron absorption from the gut, resulting in increased total body iron stores, multisystem organ dysfunction, and an increased risk of hepatocellular carcinoma. The magnetic susceptibility effects of excess hepatocellular iron generally cause diffuse hepatic signal loss on T2- or T2*-weighted MR images. Although hepatic iron deposition is usually diffuse, focal areas of iron sparing can occur, and, when present, superimposed neoplasm is a consideration. We describe a patient with cirrhosis, hemochromatosis, and multiple small benign relatively hyperintense iron-poor foci consisting of piecemeal sideronecrosis.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
2/46. Hemophagocytic syndrome presenting as acute hepatic failure in two infants: clinical overlap with neonatal hemochromatosis.Two patients with hemophagocytic lymphohistiocytosis who presented with acute liver failure are reported. Both presented with fever, hepatosplenomegaly, markedly elevated liver function tests, abnormal coagulation profiles, and an increase in serum ferritin. Both infants were diagnosed with neonatal hemochromatosis based on a clinical picture of hepatic insufficiency with hyperferritinemia and were referred for liver transplantation. The first patient died of liver failure and septicemia before transplantation. review of autopsy material revealed a hepatitis-like pattern and extensive infiltration of liver and other organs including bone marrow by histiocytes, some of which were hemophagocytic. The second patient underwent liver transplantation but died 44 days thereafter from progressive hemophagocytic lymphohistiocytosis. Examination of the resected liver demonstrated a hepatitis-like pattern, proliferation of histiocytes, and hemophagocytosis, and the bone marrow revealed hemophagocytic histiocytosis. Hemophagocytosis recurred in the allograft. Hepatic manifestations are common in hemophagocytic lymphohistiocytosis and overt hepatic failure may occur, but initial presentation as fulminant hepatic failure is not well recognized. Elevated serum ferritin can make the distinction from neonatal hemochromatosis and other forms of neonatal liver failure difficult. Hemophagocytic lymphohistiocytosis should be considered in the differential diagnosis of neonatal liver disease, especially when it is accompanied by cytopenias.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
3/46. Familial perinatal hemochromatosis: a disease that causes recurrent non-immune hydrops.Perinatal hemochromatosis is a rare disorder with an enormous iron overload in the parenchymal organs, especially the liver, pancreas, heart and endocrine glands. elements of the reticuloendothelial system are relatively spared. The clinical course is rapidly progressive and the disease is invariably fatal. Several siblings are described in the literature. Herein, we describe one pair of full siblings affected by the disease, wherein the clinical presentation was hydrops. We suggest that hemochromatosis should be considered in the differential diagnosis of hydrops fetalis.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
4/46. Hereditary hemochromatosis: diagnosis and treatment in primary care.Hereditary hemochromatosis (HHC) is one of the most common inherited disorders in the Caucasian population. diagnosis usually made after an elevation in ferritin and serum transferrin saturation is noted, often accompanied by asymptomatic hepatomegaly. diagnosis is confirmed by genetic testing or liver biopsy. Damage to organs is due to excessive intestinal iron, which is transported to and then deposited in the liver parenchyma, and the heart, skin, and endocrine organs, causing skin pigmentation, development of cirrhosis and hepatic carcinoma, diabetes and endocrine failure, and heart failure. Bony changes can be manifested by arthritis, often in non-weight-bearing joints. The treatment of HHC is phlebotomy, which depletes iron stores. When diagnosis is made before organ damage occurs, treatment can prevent manifestations of the disease. skin pigmentation and some cardiac damage may reverse on depletion of iron stores, but liver and endocrine damage is rarely reversible. Arthropathy is also not reversible, and often continues to progress even with effective treatment. When hemochromatosis is diagnosed, all first degree relatives of the patient should undergo genetic testing. With early detection and treatment this can be a manageable chronic disease. If undetected, it is potentially fatal.- - - - - - - - - - ranking = 3keywords = organ (Clic here for more details about this article) |
5/46. Bacteremic cellulitis caused by Non-01, Non-0139 vibrio cholerae: report of a case in a patient with hemochromatosis.We report a case of bacteremia associated with hemorrhagic bullous skin lesions on the leg caused by non-01, non-0139 vibrio cholerae in a 66-year-old man with hemochromatosis developed in an inland region. The organism was isolated from blood and bullae fluid. The patient was treated successfully with cefotaxime and doxycycline. This report emphasizes the potential of this organism to produce bacteremic cellulitis in people with underlying illness in the absence of usual epidemiological risk factors.- - - - - - - - - - ranking = 2keywords = organ (Clic here for more details about this article) |
6/46. Hereditary hemochromatosis among U.S. Army aviators.From 1988 to 1995, there were five reported cases of hemochromatosis among U.S. Army aviators. Three of the five are presented and discussed. The cases of hereditary hemochromatosis were discovered during unrelated work-ups or from investigation of a positive family history, and not by routine flying duty medical examinations. Recent studies show a prevalence of 5 per 1000 in the general population. This study shows the incidence among Army aviators is 0.296 per 1,000 aviator-years of observation. It is possible that there are cases presently undiagnosed in the Army aviation community. Without screening measures in place, the Army aviation Branch has greater difficulty diagnosing and treating hereditary hemochromatosis. Heightened awareness and a high clinical index of suspicion are necessary to identify affected patients. Early detection and treatment is essential to prevent long-term end organ damage from iron deposition.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
7/46. Congenital generalized infantile myofibromatosis and neonatal hemochromatosis. An autopsy case report.An autopsy case of congenital infantile myofibromatosis and neonatal hemochromatosis is reported. A thirty-six-hour-old baby girl had multiple subcutaneous nodules in addition to multiple visceral involvement of heart, lungs, pharynx, larynx, stomach, small bowel, large bowel, pancreas, kidneys, spleen, thyroid, adrenal glands, lymph nodes, peripheral nerves, meninges and soft tissues. In these tumoral nodules, three types of histological patterns were observed: 1-hemangiopericytoma-like, 2-mixed, and 3-pure spindle cell. Tumor cells were immunohistochemically positive for actin, and negative for desmin, muscle-specific antigen, and estrogen, related protein. The histological and immunohistochemical findings of the case suggested that a close relationship may exist between infantile myofibromatosis and infantile hemangiopericytoma. In addition to infantile myofibromatosis, neonatal hemochromatosis characterized by iron deposition in parenchymatous organs such as liver, pancreas, lungs, thyroid, and adrenal glands was another important characteristic of the case.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
8/46. Cardiac transplantation in a patient with hereditary hemochromatosis: role of adjunctive phlebotomy and erythropoietin.We describe the case of a 36-year-old woman with hereditary hemochromatosis (HH) resulting in end-stage cardiomyopathy and treated successfully with orthotopic cardiac transplantation. Before and after transplantation, the patient underwent aggressive treatment with frequent phlebotomy. We used erythropoietin concomitantly to maintain adequate hematocrit to support continued phlebotomy. We believe that aggressive use of phlebotomy provided the patient hemodynamic benefit and hastened the return of endocrine function post-transplantation. We also believe that the patient's history of high-dose vitamin C usage may have accelerated iron deposition in the heart and other vital organs.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
9/46. Hepatic failure with neonatal tissue siderosis of hemochromatotic type in an infant presenting with meconium ileus. Case report and differential diagnosis of the perinatal iron storage disorders.We report on a female preterm infant with hepatic failure and neonatal tissue siderosis of hemochromatotic type diagnosed by using both histochemistry and atomic absorption spectroscopy. The infant presented with meconium ileus, signs of rapidly progressive hepatic failure, and hyperferritinemia (7132 ng/ml). Despite surgery and intensive care the infant died 32 days after birth. Postmortem examination showed a wrinkled liver with extensive collapse of the hepatic architecture and regenerating nodules as well as hepatic and extrahepatic iron accumulation of hemochromatotic type, sparing the reticuloendothelial system. Atomic absorption spectroscopy confirmed an increase in the iron content of various organs: liver, heart, pancreas, oral salivary gland, kidney, and adrenal gland. The increase in the iron content of various organs was determined by comparing the analysis of the propositus with those of 5 gestationally age-related preterm infants who had died in the intensive care unit: 2 died of meconium aspiration syndrome, the other 3 of hyaline membrane disease, bronchopulmonary dysplasia, and immaturity, respectively. We also compared the analysis of 15 fetuses having a a condition predisposing to iron accumulation (trisomy 21, trisomy 18, cytomegalovirus, amnion infection syndrome, Rhesus- and ABO-incompatibility, congenital hemolysis, anti-phospholipid syndrome, congenital heart disease). Delta F508, the most frequent mutation seen in cystic fibrosis patients, was excluded by gene sequencing. Different noxae causing iron accumulation in the neonatal period have led to the statement that neonatal hemochromatosis may collect different etiologies, such as metabolic disorders, infections, chromosomal aberrations, and immunological disorders. In this study, we report the singular evidence of neonatal iron accumulation of hemochromatotic type in an infant presenting with meconium ileus and propose a classification of the neonatal disorders associated with iron accumulation.- - - - - - - - - - ranking = 2keywords = organ (Clic here for more details about this article) |
10/46. Neonatal (perinatal) hemochromatosis.autopsy findings are described of six cases (from four families) of neonatal hemochromatosis, a defect featured by severe prenatal iron storage in the liver and in a number of visceral organs similarly as in the hereditary adult-type hemochromatosis. Genetically, the two disorders are different, however. All the cases showed a characteristic liver damage with heavy iron deposits in the liver cells, lobular disarray and intralobular fibrosis, tendency towards multinuclear hepatocyte formation, ultimately resulting in pigmented cirrhosis and liver failure. In five instances the cirrhosis present was atrophic, in one case it was hepatomegalic. death occurred prenatally in one case (31st week), perinatally in three, and two cases died as young infants. The mechanism of the liver disorder, mainly that of iron accumulation, has remained unresolved. Extrahepatally, hemosiderosis affected various epithelia (in particular, thyreocytes, renal distal tubular epithelia and those of pancreatic acini) and myocardial cells which, however, did not show any damage. In two instances the placenta was conspicuously hyperplastic, in one case it showed prominent hydropic transformation of its villi. In one case there was simultaneous cytomegaly. Entities which must be considered in the differential diagnosis of neonatal hemochromatosis because of considerable hepatic and extrahepatic iron accumulation have been discussed.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
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