1/251. Encephalopathy associated with haemophagocytic lymphohistiocytosis following rotavirus infection.A 2-year-old Japanese boy with a haemophagocytic lymphohistiocytosis (HLH) associated encephalopathy which developed after rotavirus infection is described. The neurological symptoms consisted of coma, seizures and spastic quadriplegia. On therapy with steroids, etoposide and cyclosporin A, the patient recovered without any neurological deficits. The interferon-gamma levels in serum and CSF were elevated at onset of the disease but had returned to normal at the time of clinical remission. brain MRI revealed diffuse white matter abnormalities and parenchymal volume loss. Proton magnetic resonance spectroscopy revealed elevated lactate in the abnormal lesions observed on MRI, indicating that macrophages not exhibiting aerobic metabolism had infiltrated the CNS. At the time of clinical remission, the white matter abnormalities and brain lactate had disappeared. These findings suggested that the neurological symptoms resulted from the overproduction of cytokines by activated T-cells and macrophages. The pathophysiology of a HLH associated encephalopathy was considered to be a local immune response within the CNS, because interferon-gamma can induce the expression of major histocompatibility complex class I and II antigens on glial cells in the CNS. CONCLUSION: Haemophagocytic lymphohistiocytosis associated encephalopathy should be considered early in the differential diagnosis of cases with acute onset neuropathy.- - - - - - - - - - ranking = 1keywords = histiocytosis (Clic here for more details about this article) |
2/251. Multicentric reticulohistiocytosis: a mimic of gout and rheumatoid arthritis.Multicentric reticulohistiocytosis is a rare cutaneous-articular disease that may mimic more common disorders such as rheumatoid arthritis or tophaceous gout. In one fourth of patients, it is a paraneoplastic process. This brief overview is aimed at physicians who care for patients with polyarthritis, to alert them to distinctive features that differentiate multicentric reticulohistiocytosis from the common arthritides.- - - - - - - - - - ranking = 1keywords = histiocytosis (Clic here for more details about this article) |
3/251. Abdominal ultrasound findings in children with hemophagocytic lymphohistiocytosis.Hemophagocytic lymphohistiocytosis, a variant of histiocytosis, is characterized by an uncontrolled activation of the cellular immune system, including hepatic mononuclear phagocytic cells. Abdominal ultrasound findings in children are evaluated in this disease. We present six pediatric cases, two with familial and four with sporadic hemophagocytic lymphohistiocytosis, examined by abdominal sonography. Three signs were frequently observed: thickening of the gallbladder wall (all cases), increased periportal echogenicity (four cases), and enlarged lymph nodes in the porta hepatis (four cases). hepatomegaly, splenomegaly, and ascitic fluid may also be found. These imaging findings are not specific and may be seen in viral hepatitis. However, once hepatitis is excluded, they may suggest the diagnosis of hemophagocytic lymphohistiocytosis in a critically ill child. A bone smear must be done to establish the diagnosis.- - - - - - - - - - ranking = 1.3333333333333keywords = histiocytosis (Clic here for more details about this article) |
4/251. Clonal change of infiltrating T-cells in children with familial hemophagocytic lymphohistiocytosis: possible association with Epstein-Barr virus infection.BACKGROUND: Although familial hemophagocytic lymphohistiocytosis (FHL) has been considered a T-cell disorder, to the authors' knowledge there are no previous reports on the clonal basis of FHL. In the current study the authors analyzed the clonality of T-cells in two FHL patients at the time of disease onset and at disease progression. methods: Patient 1 had FHL and died of recurrent disease 4 months after bone marrow transplantation (BMT). His liver and spleen showed massive infiltrations of CD3 , CD4-, and CD8 T-cells. The Epstein-Barr virus (EBV) genome was detected by in situ hybridization. Patient 2 also had FHL and died of progressive disease 9 weeks after the onset of disease despite chemotherapy. A polymerase chain reaction (PCR) analysis showed positive EBV genome in the peripheral blood, liver, and spleen of Patient 2. In the two patients, T-cell receptor-beta and alpha-chain variable region (TCR Vbeta and V alpha) repertoires in peripheral mononuclear cells were analyzed at the time of disease onset and at disease progression by the inverse PCR method. When a high usage (> 15%) of a specific Vbeta family member was observed, a clonal analysis was performed by PCR using beta-chain joining region (Jbeta) primers. The clonality of specific Vbeta-Jbeta fragments was confirmed by a single strand confirmation polymorphism (SSCP) analysis. RESULTS: Although there was no preferential usage of Vbeta in Patient 1, the exclusive expression of Jbeta1.2 for Vbeta13 was observed. A high frequency of Vbeta13 also was observed at the time of disease progression, but the Jbeta fragment for Vbeta13 was polyclonal. In Patient 2, the restricted usage of Jbeta1.6 for Vbeta5a was observed at the time of disease onset, whereas Jbeta1.1 and 1.2 for Vbeta4 were observed exclusively at the time of disease progression. The clonality of Vbeta13-Jbeta1.2 in Patient 1 and Vbeta5a-Jbeta1.6 and Vbeta4-Jbeta1.1/Jbeta1.2 in Patient 2 was confirmed by SSCP analysis. CONCLUSIONS: These findings suggest that the polyclonal T-cell lymphoproliferative disease associated with EBV was induced after BMT in Patient 1, and that the clonal change of expanded T-cells also was induced by EBV in Patient 2. The clonal analysis of T-cells is a useful tool to clarify the pathogenesis of FHL.- - - - - - - - - - ranking = 0.83333333333333keywords = histiocytosis (Clic here for more details about this article) |
5/251. Development of acute lymphoblastic leukemia with translocation (4;11) in a young girl with familial pericentric inversion 12.We report a case of a 1-year-old girl with familial pericentric inv(12) who developed acute lymphoblastic leukemia (ALL) with t(4;11) 1 month after recovery from idiopathic hemophagocytic lymphohistiocytosis (HLH). The inv(12)(p13q15) was first found in bone marrow (BM) cells when she was diagnosed as having HLH, and then detected in the BM blasts together with t(4;11)(q21;q23) when she developed ALL. The inv(12) was retained in the BM cells after she achieved complete remission. cytogenetic analysis on the PHA-stimulated peripheral lymphocytes revealed inv(12) in all of the 30 cells examined. Because the data that ALL with t(4;11) predicts an extremely poor prognosis, she received an allogeneic BM transplantation from an HLA-matched sibling at 10 months from the onset of ALL. She is now at 26 months post transplantation and maintains in a state of complete remission. Familial cytogenetic study demonstrated that 4 of 8 maternal members examined had the inv(12), but they showed no family history of a higher risk of development of hematological and other types of malignancies, suggesting that pericentric inv(12) itself might not be directly involved in the development of ALL in this case.- - - - - - - - - - ranking = 0.16666666666667keywords = histiocytosis (Clic here for more details about this article) |
6/251. Xanthoma disseminatum: a case with hepatic involvement, diabetes insipidus and type IIb hyperlipidaemia.Xanthoma disseminatum (XD) is a rare benign non-X-histiocytic disorder of unknown aetiology. We report a 37-year-old man who presented with XD preceded by a decade of cranial diabetes insipidus, with associated type IIb hyperlipidaemia and computed tomographic evidence of hepatic involvement. A review of the literature is also included.- - - - - - - - - - ranking = 39.407661568321keywords = disseminatum (Clic here for more details about this article) |
7/251. 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 = 0.83333333333333keywords = histiocytosis (Clic here for more details about this article) |
8/251. Haemophagocytosis in early congenital syphilis.A previously healthy male infant developed hepatosplenomegaly, severe anaemia and thrombocytopenia 5 weeks after birth. Marked haemophagocytosis was present in the bone marrow. A typical maculopapular rash suggested early congenital syphilis. The diagnosis was confirmed by serology and by the presence of untreated syphilis in both parents. CONCLUSION: syphilis needs to be excluded in infants suspected of haemophagocytic lymphohistiocytosis.- - - - - - - - - - ranking = 0.16666666666667keywords = histiocytosis (Clic here for more details about this article) |
9/251. A case of hemophagocytic lymphohistiocytosis with prolonged remission after syngeneic bone marrow transplantation.We report a 7-year-old girl with hemophagocytic lymphohistiocytosis who received a syngeneic bone marrow transplant from her twin sister. She presented with high fever and cough. Laboratory findings revealed pancytopenia, elevation of liver enzymes, and hyperferritinemia. bone marrow examination revealed histiocytic hemophagocytes and lymphoblastoid cells. Southern blot analysis of the bone marrow cells revealed a monoclonal proliferation of EBV-infected lymphocytes. Although she underwent combined chemotherapy according to the HLH-94 protocol, she developed severe pancytopenia. Following myeloablative conditioning with busulfan (16 mg/kg), cyclophosphamide (120 mg/kg), and etoposide (1.5 g/m2), she was transplanted with 6.6 x 10(8)/kg mononuclear cells from the twin sister. She remains in complete remission 23 months after transplantation.- - - - - - - - - - ranking = 0.83333333333333keywords = histiocytosis (Clic here for more details about this article) |
10/251. Marked histiocytosis in the portal tract in a patient with reactive hemophagocytic syndrome: An autopsy case.We report an autopsy case of reactive hemophagocytic syndrome with peculiar liver histology. A 71-year-old female was diagnosed as having acute myelogenous leukemia and treated with chemotherapy. During her course, methicillin-resistant staphylococcus aureus (MRSA) was noted in blood culture and she was diagnosed as having MRSA sepsis. She died of respiratory failure 5 months after the onset of leukemia and 10 days after the MRSA sepsis. Ante-mortem liver function tests were within normal ranges. At autopsy, myeloblastic leukemia cells positive for CD13 were present in the bone marrow and, to a much lesser extent, in the spleen and liver. Numerous histiocytes of a bland appearance with erythrophagocytosis were noted in the bone marrow and spleen. The histiocytes were positive for CD68, but negative for S-100 and lysozymes. In the liver, many histiocytes of bland appearance with erythrophagocytosis and CD68 positivity were present in the portal tracts with no Kupffer cell hyperplasia. There were no hepatocellular degeneration, fatty changes or sinusoidal dilations. We consider that this histiocytosis was associated with MRSA infection and diagnosed this as infection-associated hemophagocytic syndrome. In previously reported cases, hemophagocytosis in hyperplastic kupffer cells was the main liver change of reactive hemophagocytic syndrome. The present case suggests that marked histiocytosis in portal tracts only may be a main feature of liver changes in reactive hemophagocytic syndrome and that such cases may not show abnormal liver function tests.- - - - - - - - - - ranking = 1keywords = histiocytosis (Clic here for more details about this article) |
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