1/48. Massive splenomegaly and Epstein-Barr virus-associated infectious mononucleosis in a patient with gaucher disease.PURPOSE: gaucher disease should be considered in the differential diagnosis of a patient with Epstein-Barr virus (EBV) infection who has unexplained or disproportionate splenomegaly. patients AND methods: A previously asymptomatic adolescent with EBV-associated infectious mononucleosis and massive splenomegaly is described. He was found to have gaucher disease on bone marrow biopsy, which was performed to exclude a hematologic malignancy. The diagnosis was confirmed by assay of beta-glucosidase enzyme activity. RESULTS: Regression of splenomegaly and improving hematologic indices. CONCLUSION: patients with infectious mononucleosis and disproportionate organomegaly should be investigated to exclude a hematologic malignancy or an underlying storage disorder such as gaucher disease.- - - - - - - - - - ranking = 1keywords = storage, enzyme (Clic here for more details about this article) |
2/48. Successful pregnancy in a woman with secondary biliary cirrhosis with portal hypertension from recurrent pyogenic cholangitis. A case report.BACKGROUND: pregnancy in women with secondary biliary cirrhosis due to recurrent pyogenic cholangitis is extremely rare. Little information is available on the effect of pregnancy on the disease and vice versa. CASE: A patient who had secondary biliary cirrhosis due to recurrent pyogenic cholangitis complicated by splenomegaly and portal hypertension had a successful pregnancy. Although she had a history of esophageal variceal bleeding before this pregnancy, there was no such bleeding during pregnancy. She had an uneventful antenatal course except that her liver enzyme level fluctuated slightly. The serum bilirubin level increased during the third trimester of pregnancy but returned to the prepregnant level after delivery. CONCLUSION: Termination of pregnancy may not be the only option for management. The management protocol for patients with primary biliary cirrhosis complicating pregnancy, which includes regular fetal surveillance and monitoring of maternal liver function, should be considered for pregnant women with secondary biliary cirrhosis.- - - - - - - - - - ranking = 0.069634651841816keywords = enzyme (Clic here for more details about this article) |
3/48. Refractory congenital ascites as a manifestation of neonatal sialidosis: clinical, biochemical and morphological studies in a newborn Syrian male infant.A Syrian newborn with coarse facies, hepato-splenomegaly, and refractory ascites is reported. Examination of the ascitic fluid showed vacuolated lymphocytes and thin-layer chromatography of urinary oligosaccharides revealed an abnormal pattern indicative of sialidosis. Despite intensive care, the baby died of respiratory insufficiency 28 days after birth. In cultured skin fibroblasts an increase of the incorporation of [14C]methylamine pointed to excessive lysosomal storage and the demonstration of an isolated deficiency of alpha-N-acetylneuraminidase (sialidase) led to the diagnosis of a sialidosis. At postmortem examination, foam cells were found mostly in bone marrow, liver, and brain. To date very few cases of neonatal sialidosis have been reported, and, to the best of our knowledge, this is the first child with neonatal sialidosis from syria and the first case of neonatal sialidosis studied by the [14C]methylamine incorporation assay.- - - - - - - - - - ranking = 0.93036534815818keywords = storage (Clic here for more details about this article) |
4/48. Hepatosplenomegalic lipidosis: what unless Gaucher? adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation.A 36-year-old woman was admitted for hepatosplenomegaly and anemia. bone marrow cytology showed "sea-blue histiocytes", vacuolated macrophages and plasma cells. As primary liver disease, malignancy or hematologic disorders were excluded, and plasma chitotriosidase activity was increased 27-fold over control, the presence of a lysosomal storage disease was suspected. Biochemical analysis of skin fibroblasts revealed normal glucocerebrosidase and sphingomyelinase activity, but lipid analysis showed a more than 15-fold accumulation of cholesterol esters within the cells. The activity of lysosomal acid lipase (LAL) in fibroblast homogenates was decreased to 12% of control subjects. Mutational analysis of the patient's blood showed the homozygous G-->A mutation at position -1 of the exon 8 splice donor site (E8SJM-allele) known for adult cholesteryl ester storage disease (CESD); the polymorphic background was that of the complex haplotype -6Thr, 2Gly, 894 G-->A. Based on clinical, laboratory, cytological and and biochemical findings, CESD can clearly be separated from other more frequent inherited lysosomal storage diseases, e.g. atypical forms of gaucher disease.- - - - - - - - - - ranking = 60.707482396502keywords = lysosomal storage, storage disease, storage (Clic here for more details about this article) |
5/48. Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C.WE DESCRIBE FOUR patients WITH NIEMANN: Pick disease type C (NPC), in whom the presentation was isolated splenic enlargement; this remained the only abnormality for a number of years. diagnosis can be suggested by either finding abnormal storage material in a tissue biopsy specimen or by showing a modest elevation in plasma chitotriosidase activity. In patients with suggestive abnormalities, filipin staining of a skin fibroblast sample should confirm the abnormality in cholesterol trafficking. Formal esterification studies and mutation analysis should also be performed, especially if prenatal testing is to be performed in subsequent pregnancies. If the diagnosis is not considered and established, the family are at risk of having further affected children. Investigation of patients with isolated splenomegaly is not complete until NPC has been excluded.- - - - - - - - - - ranking = 0.93036534815818keywords = storage (Clic here for more details about this article) |
6/48. Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 gaucher disease: a report of sibling cases.gaucher disease is a genetic lipid storage disease and represents a potentially serious health problem. It arises from a deficiency of glucocerebrosidase activity with secondary accumulation of large quantities of glucocerebroside. Symptoms are usually multisystemic, often debilitating or disabling, and sometimes disfiguring, and they can lead to death. We report objective clinical response's to repeated infusion of human placental and recombinant glucocerebrosidase in 2 patients with type 1 gaucher disease and increased hemoglobin levels and platelet counts. Splenic volume decreased during the period of enzyme administration. enzyme replacement therapy has improved the treatment of type 1 gaucher disease by safely and effectively arresting, decreasing, or normalizing many of its major signs and symptoms. Consideration by physicians must be given to gaucher disease, and appropriate treatments must be given when confronted with cryptogenic pancytopenia or hepatosplenomegaly.- - - - - - - - - - ranking = 6.464410621017keywords = storage disease, storage, enzyme (Clic here for more details about this article) |
7/48. Hemophagocytic syndrome.This case report is about an elderly man who presented with a long-standing history of high-grade fever and weight loss. He initially had only hepatosplenomegaly, but then developed jaundice. He also had pancytopenia and raised liver enzymes. His septic screen was negative, but he had a positive Monospot test and immunoglobulin g for Epstein-Barr virus. The liver biopsy showed sinusoidal phagocytosis and the subsequent bone marrow aspiration and biopsy showed significant hemophagocytosis, hence Hemophagocytic syndrome was diagnosed. The fever was refractory to antibiotic and anti-tuberculosis therapy, but it responded only partially to steroids. Full response was only noticed following anti-viral treatment in the form of intravenous ganciclovir. The patient's general condition, liver enzymes, bilirubin, hematological parameters and even the weight returned back to their normal range 2 weeks after ganciclovir therapy. Cessation of this drug resulted in relapse of his symptoms and oral antivirals did not help. splenectomy, steroid pulse therapy and immunosuppressive treatment were only partially helpful. Reintroduction of ganciclovir did help for a short period. We conclude that our patient had virus-associated hemophagocytic syndrome most likely related to Epstein-Barr virus infection, which was then confirmed by the splenic biopsy, and that ganciclovir can be of great help in eradicating the virus and treating the disease, provided that it is given for a long enough period.- - - - - - - - - - ranking = 0.13926930368363keywords = enzyme (Clic here for more details about this article) |
8/48. Sea-blue histiocytosis secondary to Niemann-Pick disease type B: a case report.Sea-blue histiocytosis is a morphological finding that can be associated both with acquired conditions of increased cellular turnover and inborn errors of lipid metabolism. We report a rare case of sea-blue histiocytosis associated with a mild phenotype of Niemann-Pick disease (NPD) type B in a 44-year-old man who presented with splenomegaly and mild thrombocytopenia. diagnosis was guided by the morphological finding in bone marrow smears of foamy and sea-blue histiocytes and confirmed by the measurement of acid lysosomal sphingomyelinase activity below normal values. NPD type B is a rare inborn error of metabolism, with a benign course and prognosis, while types A and C are always associated with severe neurological involvement. In our patient diagnosis was confirmed by the specific enzyme assay of leukocytes (deficiency in sphingomyelinase activity). This is a simple and noninvasive method that is useful whenever clinical and morphological finding are relevant, and a primary hematological disorder has been ruled out.- - - - - - - - - - ranking = 0.069634651841816keywords = enzyme (Clic here for more details about this article) |
9/48. Hepatosplenomegaly and progressive neurological symptoms - Late manifestation of Niemann-Pick disease type C - a case report -.Niemann-Pick disease type C is an inborn error of metabolism that affects lipid degradation and storage. Hepatosplenomegaly and progressive neurological symptoms are the main clinical features. We present a case of an adult-onset type of Niemann-Pick disease in a 33-year-old woman who initially presented with dysarthria. At first, laboratory findings suggested Wilson's disease. laparoscopy showed macroscopic signs of liver cirrhosis and histology did not confirm Wilson's disease. After bone marrow biopsy showed characteristic sea-blue histiocytes, Niemann-Pick disease was suspected and confirmed by filipin stain of cultured fibroblasts.Though rarely encountered, lipid storage disease should be suspected especially in younger patients with organomegaly and progressive signs of neurologic disease.- - - - - - - - - - ranking = 7.0466027099661keywords = storage disease, storage (Clic here for more details about this article) |
10/48. Mesenteric mass in a young girl--an unusual site for Gaucher's disease.We report the first case of a child with Gaucher's disease and a large mesenteric mass, confirmed histologically to be Gaucher's cell infiltrates. We describe the radiological findings and discuss further management. The advent of enzyme replacement therapy has prolonged survival and the emergence of previously undocumented manifestations of the disease is being observed. The radiologist and clinician should be alert to the possible development of these new problems and the fact that in Gaucher's disease a palpable right upper-quadrant mass need not necessarily represent hepatomegaly.- - - - - - - - - - ranking = 0.069634651841816keywords = enzyme (Clic here for more details about this article) |
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