1/7. Multicentric reticulohistiocytosis. The long course of a rare disease.Multicentric reticulohistiocytosis is a rare systemic disease. The patients usually develop an erosive polyarthritis in a few years. The most effective treatment is still unclear due to the few reports published of this disease. We report a case of multicentric reticulohistiocytosis with clinical, histopathologic and immunohistochemical study. The patient was treated with cyclophosphamide and nonsteroidal antiinflammatory drugs with an infrequent long-term survival.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/7. Successful engraftment and stable full donor chimerism after myeloablation with thiotepa, fludarabine, and melphalan and CD34-selected peripheral allogeneic stem cell transplantation in hemophagocytic lymphohistiocytosis.Allogeneic hematopoietic stem cell transplantation (HSCT) represents the only curative option for primary hemophagocytic lymphohistiocytosis (HLH), a rare disease of infants and young children, characterized by recurrent fever, hepatosplenomegaly, and cytopenia. We report a case of successful engraftment and stable full-donor chimerism in a patient with HLH who underwent peripheral allogeneic CD34-selected HSCT. The donor was his 1-antigen-HLA-mismatched grandmother. After a conditioning regimen based on the combination of thiotepa, fludarabine, melphalan, and rabbit antilymphocyte serum, the patient received a megadose of 26.3 x 10(6)/kg of CD34( ) peripheral blood cells. Neutrophil (>0.5 x 10(9)/L) and platelet (>50 x 10(9)/L) engraftment was observed on days 16 and 12, respectively, and the patient was discharged home on day 24. No acute or chronic GVHD was observed. Infectious complications were the main causes of re-hospitalization in the first year after transplantation, but no significant morbidity was observed thereafter. Thirty-two months after HSCT, the patient is alive and well, still in complete clinical remission of his underlying disease with a durable engraftment, normal NK activity and full donor chimerism. This case suggests that a fludarabine-based conditioning regimen and CD34-selected peripheral allogeneic HSCT may be a feasible option in case of unavailability of a fully HLA-matched related or unrelated donor.- - - - - - - - - - ranking = 0.25keywords = rare disease (Clic here for more details about this article) |
3/7. Hemophagocytic lymphohistiocytosis masquerading as child abuse: presentation of three cases and review of central nervous system findings in hemophagocytic lymphohistiocytosis.Hemophagocytic lymphohistiocytosis (HLH) is a rare disease resulting from abnormal proliferation of histiocytes in tissues and organs. Although the disease generally presents with systemic symptoms such as pancytopenia, coagulopathy, and organomegaly, HLH may also present with central nervous system (CNS) manifestations. CNS events can range from irritability to encephalopathy and coma. Retinal and intracranial hemorrhages are among the neuropathologic findings in these children. patients who present with CNS findings may have symptoms that mimic those of inflicted injury. These children are at risk, therefore, for misdiagnosis as victims of child abuse. Such an error causes not only unnecessary additional trauma to the family but also, more important, a delay in initiating effective therapy. We present 3 cases of children with HLH who initially came to medical attention with neurologic findings, all suspected to be victims of child abuse. Subsequent laboratory evaluations, however, were consistent with the diagnosis of HLH. No additional evidence of child abuse was obtained, and the charges eventually were dropped. Two of the 3 children died from their disease shortly after presentation; the third is surviving with no evidence of HLH several months after allogeneic bone marrow transplantation. Although the diagnosis of child abuse certainly is all too common, clinicians need to be diligent and informed to avoid assigning this label erroneously. Several laboratory findings of HLH may alert physicians to the possibility of this diagnosis. The timely diagnosis of and institution of therapy for HLH may reduce ultimate morbidity and mortality.- - - - - - - - - - ranking = 0.25keywords = rare disease (Clic here for more details about this article) |
4/7. Hemophagocytic syndrome in renal transplant recipients: report of 17 cases and review of literature.BACKGROUND: Hemophagocytic syndrome (HPS) combines febrile hepatosplenomegaly, pancytopenia, hypofibrinemia, and liver dysfunction. It is defined by bone marrow and organ infiltration by activated, nonmalignant macrophages phagocytizing blood cells. HPS is often caused by an infectious or neoplastic disease and has rarely been described in renal transplant recipients. methods: We retrospectively analyzed 17 cases of HPS after cadaveric renal transplantation (13 men and 4 women, age 41 /-8 years). The median time between transplantation and hemophagocytosis was 52 days. Eleven patients (64%) had received antilymphocyte globulins during the 3 months before presentation. RESULTS: fever was present in all patients, and hepatosplenomegaly was present in 9 of 17 patients. Other nonspecific clinical findings included abdominal, neurologic, and respiratory symptoms. Laboratory tests showed anemia (hemoglobin 6.1 /-1.3 g/dL), thrombocytopenia (34,000 /-32,000/mm3), and leukopenia (1,700 /-1,400/mm3). Elevated liver enzymes were present in 12 of 17 patients, and cholestasis was present in 10 of 17 patients. Elevated triglycerides and ferritin were noted in 75% and 86% of cases, respectively. HPS was related to viral infection in nine patients (cytomegalovirus, Epstein-Barr virus, human herpesvirus 6, and human herpesvirus 8), bacterial infection in three patients (tuberculosis and bartonella henselae), and other infections in two patients (toxoplasmosis and pneumocystis carinii pneumoniae). Posttransplant lymphoproliferative disease was present in two patients. Despite large-spectrum anti-infectious treatment and dramatic tapering of immunosuppression, death occurred in eight patients (47%). Graft nephrectomy was performed in four of the nine surviving patients. CONCLUSIONS: We report here the largest series of HPS after renal transplantation. This rare disease is usually secondary to herpes viridae infections, mostly cytomegalovirus and Epstein-Barr virus in severely immunocompromised patients. Despite aggressive treatment, the prognosis remains poor.- - - - - - - - - - ranking = 0.25keywords = rare disease (Clic here for more details about this article) |
5/7. The cytodiagnosis of meningeal involvement in familial haemophagocytic lymphohistiocytosis.The cytological appearances of the cerebrospinal fluid (CSF) in two cases of familial haemophagocytic lymphohistiocytosis (FHL) are described. The presence of numerous lymphocytes and immature macrophages in the CSF, some of which showed lymphohistiocytosis, was indicative of meningeal involvement. The appearance of large numbers of immature macrophages indicated rapid deterioration and death within a few weeks. Furthermore, some CSF samples taken at times when the patients were asymptomatic contained suspicious cells, indicating asymptomatic persistence of the meningeal lesions. Thus, cytological examination of CSF can assist with the management of patients with this rare disease.- - - - - - - - - - ranking = 0.25keywords = rare disease (Clic here for more details about this article) |
6/7. Virus-associated hemophagocytic syndrome after hepatic resection: a case report.Virus-associated hemophagocytic syndrome (VAHS) is associated with a systemic viral infection and is mainly observed in immunosuppressed adult patients. This rare disease is characterized by symptoms which include a high fever, pancytopenia, and splenomegaly and sometimes results in a fatal outcome. However, thus far, little has been reported on VAHS in general surgical patients. We herein report this rare complication which occurred in a patient with hepatocellular carcinoma, as well as chronic hepatitis c, after a hepatic resection. A 66-year-old man with chronic hepatitis c and recurrent hepatocellular carcinoma underwent a repeat hepatic resection without any blood transfusions. In the early postoperative period, he recovered uneventfully. However, he suddenly began to suffer from a high fever (38.4 degrees C) and severe pancytopenia 8 days after surgery. Activated macrophages, which phagocytosed erythrocytes, were identified by a cytological study of the bone marrow. The patient was therefore treated with methylprednisolone pulse therapy 13 days after surgery. On the day following the initial administration of methylprednisolone, his clinical condition drastically improved. Fortunately, with methylprednisolone therapy, our patient recovered from acute, severe pancytopenia. In general surgery, it is often difficult for surgeons to use steroids due to their negative side effects. However, when symptoms such as fever, general fatigue and pancytopenia are observed, even in posthepatectomy patients with hepatocellular carcinoma and hepatitis, a bone marrow aspiration should be performed as soon as possible, and when VAHS is suspected, steroid pulse therapy should be the first treatment of choice. This rare but sometimes fatal complication should thus be taken into consideration in the postoperative management of hepatectomized patients with chronic hepatitis c.- - - - - - - - - - ranking = 0.25keywords = rare disease (Clic here for more details about this article) |
7/7. A case of multicentric reticulohistiocytosis in a 6-year-old child.Multicentric reticulohistiocytosis (MR) is a rare disease in which an infiltration of histiocytic cells causes destructive polyarthritis and characteristic cutaneous lesions. It predominantly affects women between the ages of 40 and 50 years. Effective treatment has not been well established. We describe a case diagnosed in a 6-year-old girl. This is the youngest patient with MR reported to date.- - - - - - - - - - ranking = 0.25keywords = rare disease (Clic here for more details about this article) |