1/7. Griscelli syndrome: description of a case with Rab27A mutation.A 7-month-old Turkish boy presented with partial albinism and typical clinical features of an accelerated phase, suggesting the diagnosis of Griscelli syndrome. The diagnosis was confirmed by light microscopic evaluation of hair and a peripheral blood smear. Genetic analysis identified a mutation in the Rab27A gene. He was initiated immunosuppressive treatment but accelerated phase could not be ameliorated. He unfortunately died from multiorgan failure. The finding of partial albinism in children should alert clinicians to consider Griscelli syndrome since simple methods can confirm the diagnosis and early diagnosis is life-saving.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
2/7. Hemophagocytic syndrome after adult-to-adult living donor liver transplantation.Hemophagocytic syndrome is a fatal complication after liver transplantation that is rarely reported. Among 260 adult patients who underwent living donor liver transplantation at our hospital, three cases (1%) were complicated with hemophagocytic syndrome. Intensive investigation revealed aspergillus, cytomegalovirus, and hepatitis c virus as the most likely causative organisms in each patient. Despite the immediate initiation of anti-infectious treatment and supportive care, all patients died. When pancytopenia with possible underlying infectious disease is observed in liver transplant recipients, hemophagocytic syndrome should be suspected and bone marrow biopsy considered. The prognosis of hemophagocytic syndrome remains poor and further investigations are required to establish effective therapeutic options.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
3/7. cytomegalovirus infection-associated hemophagocytic syndrome.infection-associated hemophagocytic syndrome is a life-threatening condition characterized by prolonged fever, hepatosplenomegaly, and cytopenia-most commonly, thrombocytopenia and anemia. It is characterized by proliferation and activation of benign histiocytes, causing dysfunction of various organs. Herein, we report on a 5-month-old boy whose clinical picture and laboratory findings were consistent with cytomegalovirus infection-associated hemophagocytic syndrome. The patient was successfully treated with intravenous administration of immune globulin and ganciclovir. He remained well 6 months later.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
4/7. The hemophagocytic syndrome: titrating continuous hemofiltration to the degree of lactic acidosis.In 3 cases of severe multiple organ failure due to hemophagocytic lymphohistiocytosis (HLH) in children, the authors demonstrate the utility of continuous hemofiltration in attenuating the consequences of excess cytokine activity, with therapy titrated to the degree of lactic acidosis. HLH was diagnosed in 3 encephalopathic children with multiple organ failure, elevated ferritin (49,396-237,582 pmol/L; or 21,983-105,733 ng/mL), elevated serum triglyceride, and depressed cell lines. One had a known malignancy, one had EBV-associated lymphoproliferative disease, and one was previously healthy. Continuous hemofiltration was initiated, with the ultrafiltrate production rate and countercurrent dialysate flow titrated to metabolic acidosis as reflected by the serum lactate (maximum 3.5 mmol/L or 31.6 mg/dL). hemofiltration was titrated upward until lactic acidosis resolved, through clearance of lactate or interruption of excess cytokine-driven activity; maximum prescription was 2000 mL/h ultrafiltrate production plus 2500 mL/h dialysate flow. Stability was achieved with hemofiltration, then substantial resolution occurred with treatment according to the HLH-94 protocol (dexamethasone, cyclosporin, VP-16, intrathecal methotrexate). One child succumbed to candidiasis. Another made a full recovery. A third succumbed to his primary malignancy. HLH should be suspected in unexplained or unresolving multiple organ failure. Titration of hemofiltration based on measurable parameters of cellular metabolism (e.g., lactate, base deficit) may stabilize the child with metabolic acidosis long enough to allow proper diagnosis and institution of definitive therapy. hemofiltration is not a panacea but rather a stabilizing mechanism, with poorly understood effects on interstitial water and solute flux, that facilitates recovery over weeks, not days.- - - - - - - - - - ranking = 3keywords = organ (Clic here for more details about this article) |
5/7. Three patients with hemophagocytic syndrome who developed acute organic brain syndrome.INTRODUCTION: We describe three patients with hemophagocytic syndrome (HPS) who developed acute organic brain syndrome. All three presented with high-grade fever and twilight state, and were admitted to our hospital. After admission, delirium developed in all three. As delirium improved, various other psychiatric symptoms, including hallucinations, agitation, hypoactivity, affective lability and insomnia, were noted. DISCUSSION: When treated with steroid hormones, immunoglobulin and neuroleptics, all patients demonstrated improvement in their psychiatric symptoms, as well as in their general condition and laboratory findings. Ultimately, they all recovered and were discharged. CONCLUSION: It needs to be noted that organic brain syndrome might be observed at the onset of HPS. Consequently, early diagnosis and treatment for psychiatric symptoms, as well as for HPS, are crucial.- - - - - - - - - - ranking = 6keywords = organ (Clic here for more details about this article) |
6/7. Newborn infant with hemophagocytic lymphohistiocytosis and generalized skin eruptions.Hemophagocytic lymphohistiocytosis (HLH) is a rare disease resulting from abnormal proliferation of histiocytes in tissues and organs. The incidence of HLH is 1:50,000-300,000. Cutaneous eruptions have been reported in 6-65% of the cases. It's important to differentiate the eruptions from other systemic diseases. We present an infant with prominent skin manifestations of HLH. On the 11th day of life, she was admitted to our hospital with complaint of a generalized rash that had started the previous day. The eruptions consisted of irregularly shaped maculopapular erythematous rash and purpura. bone marrow aspiration on the 25th day of life revealed hemophagocytosis with increased macrophages and histiocytes, consistent with HLH. Treatment was started with dexamethasone followed by induction chemotherapy with etoposide. All skin manifestations resolved in a few days. Although the clinical features are nonspecific, HLH should be kept in mind as an accompanying disease in neonates presenting with skin eruptions.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
7/7. Virus associated hemophagocytic syndrome accompanied by acute respiratory failure caused by influenza A (H3N2).A 40-year-old Japanese woman was admitted to Oita University Hospital with progressive dyspnea, consciousness disturbance and severe cytopenias. Her chest roentgenogram showed diffuse bilateral infiltrates. She was therefore forced to receive mechanical ventilation. bone marrow aspiration disclosed numerous hemophagocytic histiocytes, thus suggesting her condition to be hemophagocytic syndrome. In addition, she also developed myocarditis and renal failure. Pulsed methylprednisolone, gamma-globulin, granulocyte colony-stimulating factor and sivelestat sodium hydrate were administrated, and thereafter the patient recovered from cytopenia and organ failure. Afterwards, influenza A H3N2 was detected from bronchial extracts. We should recognize that an influenza a virus infection can induce hemophagocytic syndrome and acute respiratory failure as the initial manifestations of multiple organ failure.- - - - - - - - - - ranking = 2keywords = organ (Clic here for more details about this article) |