1/59. 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 = organ (Clic here for more details about this article) |
2/59. 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) |
3/59. Disseminated histoplasmosis with reactive hemophagocytosis: aspiration cytology findings in two cases.Two cases of disseminated histoplasmosis associated with reactive hemophagocytic syndrome are described. The clinical presentation was with prolonged unexplained fever and hepatosplenomegaly. On a strong clinical possibility of tuberculosis, antitubercular treatment was initiated in both patients. Lymph node (case 1), splenic (case 2), and bone marrow aspiration, however, showed sheets of proliferating histiocytes, and intracellular and extracellular histoplasma organisms. Aspiration cytology was thus valuable in establishing the final diagnosis. The patients had a fulminant clinical course and died of hemorrhagic shock within 48 hr of hospital admission before specific therapy could be initiated. histoplasmosis can mimic tuberculosis clinically. There is a need for an increased awareness of the clinicopathological spectrum of histoplasmosis, especially its rarer manifestations as hemophagocytic syndrome. In suspected cases, aspirations from the lymph node, liver, and spleen can be performed safely and should be utilized for early diagnosis.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
4/59. Thermophilic multidrug-resistant campylobacter fetus infection with hypersplenism and histiocytic phagocytosis in a patient with acquired immunodeficiency syndrome.We present a case report of a patient who had acquired immunodeficiency syndrome (AIDS) and campylobacter fetus infection with a number of unusual clinical and microbiological features. The patient had prominent gastrointestinal symptoms, splenic infarction, splenomegaly with hypersplenism, and hemophagocytic histiocytosis in the spleen and lymph nodes; the organism displayed growth on Campy-selective blood agar, thermotolerance, and resistance to quinolones, piperacillin/tazobactam, ceftazidime, and erythromycin.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
5/59. Splenic vascular malformations and portal hypertension in hereditary hemorrhagic telangiectasia: sonographic findings.Hereditary hemorrhagic telangiectasia, or Osler-Rendu-Weber disease, is an autosomal dominant disorder in which a variety of vascular dysplasias occur throughout the organ systems. We report the gray-scale and color Doppler sonographic findings in a case of hereditary hemorrhagic telangiectasia. Gray-scale sonographic examination revealed massive splenomegaly, multiple dilated intrasplenic vascular structures (some with adjacent punctate calcifications), an aneurysmal dilatation of the splenic vein, dilated intrahepatic portal branches, and marked atrophy of the right hepatic lobe. color Doppler sonography showed dilatation of the truncus coeliacus and high-velocity flow in the splenic artery. There were significant aliasing in the splenic hilum and an abnormal, arterialized flow in intrasplenic branches of the splenic vein. The splenic vein was massively enlarged with increased flow velocity and contained an isolated aneurysmal dilatation in the hilum. There were multiple serpiginous retroperitoneal collateral vessels, and the left gastric vein was dilated with hepatofugal flow. The patient had portal hypertension that developed secondary to the increased portal flow.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
6/59. Bronchial mucoepidermoid tumour in a child presenting with organomegaly due to secondary amyloidosis: case report and review of the literature.Childhood bronchial mucoepidermoid tumours (BMET) are rare. A 12-year-old boy with hepatosplenomegaly underwent liver biopsy which diagnosed amyloidosis. Chest radiograph and CT, performed for recurrent respiratory symptoms, identified a left lower lobe tumour, which was subsequently excised. histology showed a BMET. A literature review reveals 51 reported cases of BMET in children. Common presenting symptoms include fever, cough and recurrent pneumonia. Diagnosis is often delayed and patients with recurrent respiratory symptoms should undergo CT or bronchoscopy. The association between amyloidosis and BMET in this case is unique and has not been previously described, but may be coincidental.- - - - - - - - - - ranking = 4keywords = organ (Clic here for more details about this article) |
7/59. 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 = 1keywords = organ (Clic here for more details about this article) |
8/59. Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in young adults.OBJECTIVES: Congenital dyserythropoietic anemia (CDA) type I is a rare autosomal recessive macrocytic anemia whose natural history is not well documented. The aim of the present study was to evaluate the clinical picture of the disease in young adults. methods: The study sample consisted of 17 patients of mean age 11.9 /- 5.4 yr (range 18-33 yr) and one older patient (age 44 yr), all Israeli Bedouins. The degree of anemia was evaluated as well as the extent of development of gallstones and iron overload. In each subject we determined the hemochromatosis gene mutations and the uridine dyphosphate-glucoronosyltransferase (UGT-1A) gene polymorphism associated with Gilbert's syndrome. RESULTS: The patients were found to have moderate anemia, with the women displaying lower mean hemoglobin levels than the men (8.2 /- 0.9 g dL(-1) vs. 10 /- 1.3 g dL(-1); P=0.0059). The majority of patients (59%) had received at least one blood transfusion, with the women having a significantly higher transfusion requirement. Although delayed puberty was noted, final height and weight were within normal limits, and eight patients had progeny. Biliary stones were found in three of 16 patients, two of whom were homozygous for UGT-1A gene polymorphism. None of the patients carried the common hemochromatosis gene mutation, although serum ferritin levels were moderately elevated (788 /- 332 ng mL(-1)). CONCLUSIONS: CDA type I in young adults is characterized by moderate macrocytic anemia, more severe in women, and a tendency to cholelithiasis and secondary progressive iron overload. We suggest that iron overload in this patient population should be monitored and chelation therapy initiated when indicated to prevent organ damage- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
9/59. Split chimerism after allogeneic bone marrow transplantation in chediak-higashi syndrome.chediak-higashi syndrome (CHS) is a hereditary multiorgan disease associated with a lymphoproliferative disorder termed 'accelerated phase' (AP). As AP is often life-threatening, hematopoietic stem cell transplantation has been proposed as the only curative treatment for CHS. Here, we report a 1-year-old Japanese boy with CHS who received an HLA-matched unrelated BMT at the AP stage, which resulted in split chimerism. We evaluated the chimerism status of isolated leukocytes and found that only a limited population of T and NK cells was of donor origin and the majority of these and other hematopoietic cells was of host origin. Clinical outcome was successful, and the patient is currently alive and well, free of AP and serious infections more than 18 months after BMT.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
10/59. Idiopathic myelofibrosis associated with classic polyarteritis nodosa.A woman with scleroderma and classic polyarteritis nodosa (PAN) who developed idiopathic myelofibrosis (IM) is reported. The patient presented with a one-year history of weakness, polyarthritis, Raynaud phenomenon, dry cough, and epigastralgia. The diagnosis of scleroderma with visceral involvement was made and treatment with prednisone subsequently started, with good clinical response. Six years later, fever, weight loss, livedo reticularis, and dysesthesias developed. Electromyographic studies were consistent with sensory neuropathy and a sural nerve biopsy yielded the diagnosis of PAN. The patient received cyclophosphamide plus prednisone with a favorable response, but 11 years later she was admitted because of weakness, constitutional symptoms, and abdominal pain due to spleen infarcts. Marked anemia, with aniso-poikilocytosis, tear-drop cells, immature myeloid precursors in the peripheral blood, and an increased serum LDH, was observed and the diagnosis of IM established by bone marrow biopsy. This case represents a new association between IM and an autoimmune disease and supports the hypothesis of an immune basis of IM in some patients.- - - - - - - - - - ranking = 0.051258524280904keywords = nerve (Clic here for more details about this article) |
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