Cases reported "Splenomegaly"

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1/39. 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.
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ranking = 1
keywords = enzyme
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2/39. 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.
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ranking = 1
keywords = enzyme
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3/39. A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules.

    We report a new variant type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, gastroesophageal reflux, and fibrous thickening of splenic and hepatic capsules. This patient had 1 D409H allele. He differed from other reported cases with a 1342G to C (D409H) homozygous mutation (onset at 4 months, no cardiac involvement until the age of 12 years, and massive hepatosplenomegaly with fibrous thickening of spleen and liver capsules). Enzyme replacement therapy was given for 4 years, resulting in an improvement of visceral and hematologic abnormalities but no neurologic improvement.
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ranking = 11.361767774899
keywords = replacement therapy, replacement
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4/39. pregnancy after avascular necrosis of the femur complicating Gaucher's disease.

    A patient with type I Gaucher's disease had avascular necrosis of the right femoral head that resulted in an altered bony pelvis and marked restriction of right hip abduction. enzyme replacement therapy with alglucerase prevented further deterioration and improved thrombocytopenia. Vaginal delivery was achieved with the patient in the left lateral position with exaggerated flexion at the contralateral hip.
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ranking = 11.361767774899
keywords = replacement therapy, replacement
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5/39. 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.
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ranking = 14723.485334291
keywords = enzyme replacement therapy, enzyme replacement, replacement therapy, enzyme, replacement
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6/39. 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.
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keywords = enzyme
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7/39. 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.
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ranking = 1
keywords = enzyme
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8/39. 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.
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ranking = 3677.7808916291
keywords = enzyme replacement therapy, enzyme replacement, replacement therapy, enzyme, replacement
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9/39. High-dose chemotherapy and autologous peripheral blood stem cell transplantation for treatment of unspecified peripheral T-cell lymphoma presented with hepatosplenomegaly and hypercytokinemia syndrome: report of three cases.

    We report here three cases of peripheral T-cell lymphoma unspecified (PTCL-US), which presented with bone marrow infiltration and hepatosplenomegaly and were successfully treated with high-dose chemotherapy (HDCT) and autologous peripheral blood stem cell transplantation (auto-PBSCT). The patients were all characterized by cytokine-induced symptoms such as fever, anasarca, cytopenia, poor general condition, and disseminated intravascular coagulation syndrome. Laboratory data showed extremely high levels of soluble interleukin-2 receptor, beta(2)-microglobulin, and ferritin. All three patients were negative for anti-adult T-cell leukemia antibody. In one patient, hemophagocytosis was revealed by a histological examination of the bone marrow. The International Prognostic Index was high for all three patients, and they all achieved complete remission after the intensive chemotherapy for remission induction. During complete remission, they were treated with HDCT [modified interleukin-converting enzyme regimen] followed by auto-PBSCT. The recovery of hematopoiesis after auto-PBSCT was prompt and sustained engraftment was obtained. No serious adverse effects other than myelosuppression were noted. One patient died due to cerebrovascular disease without relapse 18 months after auto-PBSCT. The other two patients are still alive and have not suffered from relapse. Our observations suggest that auto-PBSCT following HDCT may be an effective and safe therapeutic modality for high-risk PTCL-US patients characterized by hepatosplenomegaly and cytokine-induced syndrome.
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ranking = 1
keywords = enzyme
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10/39. Rebound hepatosplenomegaly in type 1 gaucher disease.

    A 19-year-old male patient with type 1 gaucher disease was put on regular biweekly infusions of alglucerase. After 1 yr of treatment, hepatic and splenic volumes decreased from 38 and 45 mL/kg to 31 and 34 mL/kg, respectively. In addition, hemoglobin concentration, platelet count and white cell count increased, acid phosphatase level decreased, and the patient gained weight and energy. Despite improvement, the patient refused enzyme replacement therapy (ERT) because of muscle rigidity, chest pain, trembling and anxiety, which he attributed to enzyme substitution. Two and 4.5 year after cessation of therapy, hepatic and splenic volumes increased to 36 and 53 mL/kg and to 53 and 110 mL/kg, respectively. The patient developed non-tractable hematuria because of compression and dislocation of the left kidney by the enlarged spleen, which necessitated splenectomy. This report suggests that cessation of ERT in gaucher disease may result in severe and complicated rebound visceromegaly.
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ranking = 3678.7808916291
keywords = enzyme replacement therapy, enzyme replacement, replacement therapy, enzyme, replacement
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