Transfusion-transmitted babesiosis in an immunocompromised patient: a case report and review

Babesiosis is a tick- and transfusion-borne disease caused by intraerythrocytic Babesia parasites. In 2009, a 61-year-old Minnesota woman with chronic lymphocytic leukemia and a history of recent chemotherapy and numerous blood transfusions for gastrointestinal bleeding became febrile and anemic 12 days postsplenectomy. Babesia were visualized on blood smears, confirmed by polymerase chain reaction as B. microti. She developed respiratory failure despite initiation of clindamycin and quinine, and required 12 weeks of azithromycin and atovaquone before blood smear and polymerase chain reaction findings were negative. Serologic evidence of B. microti infection was identified in 1 associated blood donor and 1 other recipient of that donor's blood. Babesia infection can be asymptomatic or cause mild to fulminant disease resulting in multiorgan failure or death. Patients with advanced age, asplenia, or other immune compromise are at risk for severe babesiosis and may require prolonged treatment to eradicate parasitemia. Incidence of transfusion-transmitted babesiosis has increased over the past decade.     

SIADH is only an atypical clinical feature in a patient with prolactinoma

A 50-year-old man was admitted to determine the pathogenesis of hyponatremia. He had a poor appetite and was easily fatigued. Physical findings showed that he was conscious and alert. He had neither dry skin or tongue, nor pretibial edema. Laboratory data revealed that the serum sodium level was 110 mmol/l; plasma osmolality, 238 mmol/kg; and urinary osmolality, 417 mmol/kg. Plasma arginine vasopressin was 0.5 pg/ml despite plasma osmolality of 242 mmol/kg. An acute water load showed impaired water excretion, as percent excretion of water load was 30% and minimal urinary osmolality was 642 mmol/kg. Serum prolactin was 254 ng/ml, and anterior pituitary hormones of ACTH, TSH and GH were in the normal ranges. Brain magnetic resonance imaging (MRI) showed a pituitary tumor with a size of 20 x 22 x 21 mm and it pushed a pituitary stalk upward. Immunohistochemistry revealed prolactinoma. After the adenomectomy, serum sodium level has been kept normal with free access to water intake. The present study indicates that syndrome of inappropriate secretion of antidiuretic hormone (SIADH) is manifested in association with pituitary macroadenoma of prolactinoma.     

Life-threatening babesiosis in a women from Wisconsin

A 63-year-old women from Wisconsin presented with severe hemolytic anemia and was found to have babesiosis by red blood cell morphologic appearance and serologic testing. Despite having an intact spleen, she developed adult respiratory distress syndrome, which required prolonged mechanical ventilation. An unusually high level of parasitemia was noted and resolved completely following treatment with quinine, clindamycin, and exchange transfusion. This case illustrates that the geographic distribution and clinical severity of babesiosis may be greater than previously recognized and that reduction in parasitemia may be achieved with exchange transfusion, quinine, and clindamycin.     

Cytomegalovirus infection in a patient with atypical Kawasaki disease

Kawasaki disease (KD) is an acute, febrile, and multisystem vasculitis of early childhood with a striking predilection for the coronary arteries. The most significant complication is coronary artery abnormalities, including coronary aneurysms. The etiology of KD remains unknown. Many infectious agents including viruses have been postulated as possible causes of KD. But standard microbiologic techniques, molecular methods and serologic investigations have failed to identify an etiologic agent. We described a patient with atypical KD during cytomegalovirus infection.     

Characterization of a patient with atypical amegakaryocytic thrombocytopenia

We report a 6-year-old girl with amegakaryocytic thrombocytopenia, the first case of this rare congenital disorder not to have an MPL gene mutation. Although no mutations were identified in MPL, Mpl protein was absent in the platelets and TPO induced phosphorylation of the Janus tyrosine kinase 2 (Jak2) was not detected. In addition to the defect of Mpl, the patient demonstrated markedly reduced expression of glycoprotein VI (GPVI) in contrast to normal expression of other platelet-specific proteins GPIb alpha, GPIb beta, and GPIIb. To explore the causes for the absence of Mpl, the entire coding region of Jak2 and AML1 were sequenced and no mutations were identified. To our knowledge, this is the first report that describes a case of amegakaryocytic thrombocytopenia that is not caused by a mutation in MPL and demonstrates the severe impairment of GPVI expression on platelets.     

Disseminated toxoplasmosis: an atypical presentation in an immunocompetent patient

Acute acquired toxoplasmosis is considered a self-limited mononucleosis-like disease that rarely requires treatment. We report an unusual severe case of disseminated toxoplasmosis complicated with meningitis and pneumonia in a previously 41-year-old healthy Brazilian man. Toxoplasmosis should be included in the differential diagnosis of acute febrile diseases due to the non-specific clinical symptoms and the possibility of severe outcome.     

Granulomatous Pneumocystis carinii pneumonia in a non-AIDS patient: an atypical presentation

We present the computed tomographic findings of pulmonary involvement by granulomatous Pneumocystis carinii pneumonia in a 73-year-old woman recently tapered from a high-dose long-term systemic corticosteroid therapy for Factor VII deficiency.     

Disseminated atypical mycobacteriosis in a patient with chronic myelogenous leukemia

A 61-year-old woman with a 6-year history of chronic myelogenous leukemia (CML) presented with recurrent fever in July 1996. Bone marrow aspiration, biopsy and chromosome analysis showed that CML was in the chronic phase. Bone marrow biopsy revealed nonspecific inflammatory lesions. Chest X-ray and computed tomography examinations demonstrated interstitial pneumonia. Cultures of gastric juice and bone marrow yielded colonies of Mycobacterium avium complex (MAC), and a diagnosis of disseminated atypical mycobacteriosis was made. Multidrug treatment including rifampicin, ethambutol, clarithromycin and ciprofloxacin was begun. The cultures subsequently became negative and the fever was resolved. However, fever eventually recurred and the patient died of multiple organ failure in October 1997. since disseminated atypical mycobacteriosis complicating hematological disorders worsens the prognosis, its early diagnosis and prompt treatment are important. Although it is often difficult to identify atypical mycobacterium as a causal agent, frequent culturing of atypical mycobacterium from various sources including bone marrow fluid can be helpful for early diagnosis whenever fever of undetermined origin occurs in patients with hematological disorders.     

Parathyroid hormone-related protein (PTH-rP)-associated hypercalcemia in a patient with an atypical chronic lymphocytic leukemia

We describe a patient with an atypical chronic lymphocytic leukemia (CLL) of the mixed cell type with a hypercalcemia due to parathyroid hormone-related protein production by the malignant B cells. On regard of the elevated serum calcium level without overt lytic bone lesions we found elevated serum levels of PTH-rP and demonstrated the presence of PTH-rP on the malignant lymphocytes. PTH-rP-related hypercalcemia in CLL is very rare. The role in PTH-rP in humoral hypercalcemia of malignancy is discussed.     

Identification of anti-herpes simplex virus antibody-producing B cells in a patient with an atypical RAG1 immunodeficiency

Mutations of the RAG1 or RAG2 protein that eliminate their recombination activity result in T-B-severe combined immunodeficiency (SCID), whereas mutations retaining partial recombination activity lead to Omenn syndrome, a peculiar SCID characterized by increased host T cells and absence of circulating B cells. The prognosis of this disease is fatal, unless hematopoietic stem cell transplantation is performed. This study reports a case of atypical SCID, carrying RAG1 mutations. The patient survived for 6 years without hematopoietic stem cell transplantation. The missense mutation, tested by in vivo recombination assay, revealed residual recombination activity. By the age of 5 years, the patient developed host B cells, but not T cells, possibly due to engrafted maternal T cells. In addition, the host B cells were able to produce antibodies, including anti-herpes simplex virus-antibodies. The fact that host B cells could produce antibodies in this patient could explain not only the mild phenotype observed but also, at least in part, how patients with Omenn syndrome produce immunoglobulin E and sometimes immunoglobulin M, as the same missense mutation of RAG1 gene has been reported in a patient with Omenn syndrome.     

Nontuberculous atypical mycobacterial infection with progressive pancytopenia in a patient with myelodysplastic syndrome

We describe a patient with myelodysplastic syndrome (MDS) who developed disseminated infection due to nontuberculous mycobacteria (NTM). A 64-year-old man was admitted because of persistent fever that had been unresponsive to antibiotics. Bone marrow aspiration specimens showed myelodysplasia (RA), but the origin of the fever was unclear. Cytopenia worsened to a level that required transfusion of red blood cells and platelets. Repeated bone marrow examination revealed hypoplasia with hemophagocytosis. Several weeks later, photochromogenic NTM was isolated from bone marrow specimens, sputum and broncho-alveolar lavage (BAL) fluid which had been obtained on admission. Antituberculosis treatment with clarithromycin markedly improved the patient's general condition and hematological abnormalities. Three months after resolution of the NTM infection, the peripheral blood monocyte count increased, the fever recurred, and the patient suddenly died of myocardial infarction. Disseminated infection with NTM has gained attention as a frequent complication of AIDS, and NTM can also be one of the pathogens causing disseminated infection in patients with MDS. In the present case, infection with mycobacteria that normally would have been digested by macrophages and would not have caused disseminated infection in a healthy individual, was probably related to the clinical features including high fever, severe pancytopenia and hemophagocytosis.