11/55. guillain-barre syndrome and hemophagocytic lymphohistiocytosis in a patient with severe chronic active Epstein-Barr virus infection syndrome. Epstein-Barr virus (EBV) infection causes a wide range of neurologic and hematologic manifestations. We report a 72-year-old Japanese male patient with severe chronic active EBV infection syndrome (SCAEBV) who presented with guillain-barre syndrome (GBS) and developed hemophagocytic lymphohistiocytosis (HLH) several months after the onset of GBS. He showed acute onset of distal muscle weakness, ophthalmoplegia and bulbar palsy. Results of nerve conduction study revealed acute motor-sensory axonal neuropathy (AMSAN). His serum was positive for anti-LM1 IgG and anti-GM1b IgM. Titers of antibodies to EBV-related antigens indicated chronic reactivated EBV infection. Treatment with IVIg resolved the acute ophthalmoplegia, but there was no notable improvement in the AMSAN and bulbar palsy despite repeated. Finally, he developed refractory HLH resulting in a fatal outcome. In the present patient, it seems that SCAEBV was associated with the development of GBS and fatal HLH via parainfectious autoimmunity and direct infectious immune mechanisms, respectively. ( info) |
12/55. Fatal HHV-8-associated hemophagocytic syndrome in an hiv-negative immunocompetent patient with plasmablastic variant of multicentric Castleman disease (plasmablastic microlymphoma). Virus-associated hemophagocytic syndrome (VAHS) triggered by HHV-8 is extremely rare and has been reported only in 9 immunocompromised patients. We report the first case of HHV-8-associated VAHS in an hiv-negative, immunocompetent patient with plasmablastic variant (plasmablastic microlymphoma) of multicentric Castleman disease (MCD). This 61-year-old man presented with fever, cough, and bilateral inguinal lymphadenopathy. biopsy of the right inguinal lymph node revealed plasmablastic MCD with nodular aggregates of plasmablasts expressing IgM, MUM1, HHV-8 latency-associated nuclear antigen, and viral interleukin-6. These plasmablasts were monotypic for Iglambda light chain expression but not Igkappa. All the B-cell clonality assays, including IgH-FR2, IgH-FR3, DH-JH, Igkappa, and Iglambda PCR, showed a polyclonal pattern. His serum human interleukin-6 level was markedly elevated and was negative for EBV acute infection/reactivation. The marrow aspirate showed florid hemophagocytosis. His disease progressed rapidly to multisystemic illness, and he died of acute respiratory failure in 1 month. Our case showed that HHV-8 might trigger VAHS in an immunocompetent patient with plasmablastic MCD. We speculated that our patient developed VAHS under the cytokine storm associated with the proliferating HHV-8-infected plasmablasts, similar to the EBV-triggered VAHS in patients with EBV-associated T-cell lymphoma. ( info) |
13/55. toxoplasmosis-associated hemophagocytic syndrome in renal transplantation. toxoplasmosis is an infrequent, often difficult to diagnose and potentially lethal disease in kidney transplant recipients. Among reported cases, a few were associated with hemophagocytic syndrome (HPS), a rare condition characterized by widespread proliferation of macrophages phagocytizing blood elements, accompanied by fever and pancytopenia. We report here the case of a patient who received a toxoplasma gondii positive kidney allograft and developed invasive toxoplasmosis 10 days after surgery, with high fever, skin rash, arthralgias, and renal failure, followed by pneumonia, anemia, thrombocytopenia, liver dysfunction, and encephalitis. Mislead by the absence of toxoplasma on blood smears, alveolar fluid, renal graft biopsy, and negative brain computed tomography, confusion with serum sickness, and simultaneous herpetic infection, we failed to make the right diagnosis and the patient died with septic shock 11 days later. An HPS was revealed by a late bone marrow analysis. This may well be the fourth case ever reported of toxoplasmosis-associated HPS in renal transplant recipients. ( info) |
14/55. Success with infliximab in treating refractory hemophagocytic lymphohistiocytosis. Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder characterized by fever, pancytopenia, hepatosplenomegaly, liver dysfunction, and hemophagocytosis. A 29-year-old woman, diagnosed with systemic lupus erythematosus in 1996, developed HLH in early June 2002. HLH remained refractory during 1.5 months of treatment including corticosteroid, cyclosporine, plasma exchange, vincristine, and etoposide. Infliximab (5 mg/kg/day) was then administered twice. After the second administration, the patient attained remission. Because HLH itself is not a neoplasm but an uncontrolled immune reaction, blocking cytokines involved in the reaction should have therapeutic potentials. For HLH patients not responding to conventional therapy, anticytokine treatment with infliximab may represent one of promising options. ( info) |
15/55. A novel perforin gene mutation in a Japanese family with hemophagocytic lymphohistiocytosis. A 4-month-old girl with clinical features of hemophagocytic lymphohistiocytosis (HLH) was successfully treated with immunochemotherapy but died at the age of 1 year and 3 months, before hematopoietic stem cell transplantation could be performed. Her family history showed death during infancy of the eldest sister, suggesting a diagnosis of familial HLH (FHL). Direct sequencing of the dna extracted from the patient's spleen tissue obtained at autopsy revealed a novel perforin gene mutation: a homozygous 1289G insertion (Asp430 frameshift and termination at amino acid residue 457), which has not previously been reported in FHL patients. ( info) |
16/55. Disseminated hyperkeratotic and granulomatous nodules in a child with fatal Epstein-Barr-virus-associated hemophagocytic lymphohistiocytosis. Hemophagocytic lymphohistiocytosis is a rare and potentially fatal syndrome associated with a variety of genetic, malignant, autoimmune, or infectious conditions. The importance of cutaneous presentations of this syndrome has only recently been brought forward. We report the first case of Epstein-Barr-virus-associated hemophagocytic lymphohistiocytosis presenting with papulonodular and granulomatous skin lesions. A girl of African origin developed several umbilicated papules on her extremities and face at the age of 18 months. She was born in germany, had never visited africa, and was otherwise healthy. Over the next 5 months the lesions progressed in size and number and became hyperkeratotic. Histopathologic analysis of early lesions revealed a superficial lympho- and plasmacellular dermatitis with some features of panniculitis. Later biopsy specimens from nodular lesions showed the formation of tuberculoid granulomas in the deep dermis. At the age of 23 months she became severely ill, rapidly developing high fever, hepatosplenomegaly, icterus, pancytopenia, and ascites. On the basis of bone marrow and lymph node biopsies, the diagnosis of hemophagocytic lymphohistiocytosis was established. However, this phenomenon could not be detected in any of the skin specimens. An active Epstein-Barr virus infection was diagnosed by polymerase chain reaction in blood, lymphoid tissue, and skin. Despite chemotherapy with etoposide and cortisone, the girl expired 14 days after clinical onset of her systemic disease. ( info) |
17/55. micrococcus sedentarius bacteraemia presenting with haemophagocytic syndrome in previously healthy boy. Haemophagocytic syndromes are the clinical manifestation of an increased macrophagic activity with haemophagocytosis. infection-associated HS was originally described by Risdall in 1979, in viral disease. Since the initial description HS has also been documented in patients with bacterial, parasitic or fungal infections. We describe a case of micrococcus sedentarius bacteraemia in a previously healthy 10-y-old boy with haemophagocytic syndrome. Species of micrococci are generally considered as non-pathogenic commensals that colonize the skin, mucosae and oropharynx. We report the first case of Microccoccus sedentarius bacteraemia in an immunocompetent host and first case of HS associated with micrococcus species. ( info) |
18/55. Subcutaneous panniculitis-like T-cell lymphoma: successful initial treatment with prednisolone and cyclosporin A. A case of subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is reported. A 27-year-old man presented with fever and abdominal swelling. His laboratory examination revealed pancytopenia and liver dysfunction. The diagnosis of SPTCL was made by biopsy based on thickened subcutaneous tissue. In addition, bone marrow specimen showed a hemophagocytosis syndrome (HPS). methylprednisolone pulse therapy was initiated followed by prednisolone (60 mg/day) and cyclosporin A (150 mg/day). He responded to the treatment and remained asymptomatic for at least for 6 months. Our results suggest that a trial of cyclosporin A is warranted in patients with SPTCL complicated by HPS. ( info) |
19/55. Emergence of Epstein-Barr virus-associated haemophagocytic syndrome upon treatment of systemic lupus erythematosus. A 32-year-old female patient with systemic lupus erythematosus was admitted to our hospital with fever and cytopenia, and diagnosed as haemophagocytic syndrome (HPS) by bone marrow aspiration study showing haemophagocytosis. Since the serologic activity of lupus was not increased at that time and HPS was refractory to the conventional therapies, an additional aetiological factor was suspected. Real-time PCR analysis identified reactivation of Epstein-Barr virus (EBV). A combination therapy targetting EBV-associated HPS, consisting of intravenous administration of cyclosporine A as well as immunoglobulin with a high titre of anti-EBV antibody, significantly suppressed EBV viraemia and led to the remission of HPS until the time of writing. ( info) |
20/55. An exclusive case of juvenile myelomonocytic leukemia in association with Kikuchi's disease and hemophagocytic lymphohistiocytosis and a review of the literature. We present a case of juvenile myelomonocytic leukemia (JMML) accompanied by immune-mediated hemophagocytic lymphohistiocytosis (HLH) and Kikuchi's disease, both as a paraneoplastic phenomenon. As this combination, to the best of our knowledge, has not been described before, consensus on preferable treatment is lacking. Our patient was treated with prednisolone according to the few described cases of HLH and Kikuchi's disease in non-JMML patients, resulting in disappearance of the clinical symptoms. ( info) |