Key words ATG, CAEBV, cardiac muscle, Epstein-Barr virus, hematopoietic stem cell transplantation.Chronic active Epstein-Barr virus infection (CAEBV) is a lifethreatening disorder characterized by prolonged fever, wasting, hepatosplenomegaly, and cytopenia, in addition to abnormal EBV antibody titers and the presence of EBV antigens or EBV-DNA in tissue. 1 The ultimate prognosis of CAEBV is very poor, and patients with CAEBV often develop a progressive cellular and humoral immunodeficiency with pancytopenia and hypoglobulinemia that renders them susceptible to opportunistic infections or B-or T-cell lymphoproliferative disease. 2 An effective treatment for CAEBV has yet to be established, although allogeneic hematopoietic stem cell transplantation (HSCT) was recently reported to be effective in eradicating EBV-infected lymphocytes. 3,4 Allogeneic HSCT is, however, accompanied by a considerable risk of therapy-related death. Kimura et al. reported that approximately one-half of patients with CAEBV who underwent HSCT died within 60 days. 5 We here report a patient with CAEBV who developed fatal acute circulatory failure during the preconditioning of HSCT, and in whom autopsy showed degeneration of specialized cardiac muscle and severe large-vessel arteritis associated with CAEBV. Case reportA 12-year-old boy was admitted to a regional hospital with a 2 year history of fever, wasting, and a short stature (-3.0 SD). He was diagnosed with CAEBV on clinical signs and the presence of EBV genome in peripheral blood, and was admitted to hospital in April 2005. He was allergic to mosquito bites. On examination, lymph node adenopathy was noted. No skin lesion was observed. On brain CT, bilateral calcification of the basal ganglia was noted. Echocardiography showed dilatation of the lumens of the coronary arteries. The leukocyte count was 2.2 ¥ 10 9 /L; hemoglobin, 12.5 g/dL; and platelet count, 61 ¥ 10 9 /L. Biochemical analysis was as follows: aspartate aminotransferase, 28 IU/L; alanine aminotransferase, 14 IU/L; lactate dehydrogenase, 265 IU/L; C-reactive protein, 0.63 mg/dL; soluble interleukin-2 receptor, 1200 U/mL (normal, <519 U/mL); viral capsid antigen (VCA)-IgG, ¥320; EA-IgG, ¥10; EBNA, ¥10. Natural killer activity was 55%. The quantity of EBV genome DNA was increased (2.6 ¥ 10 3 copies/mg DNA) on polymerase chain reaction in peripheral blood mononuclear cell (PBMC), particularly in CD4+T cells (4.3 ¥ 10 4 copies/mg DNA), but not in CD8+T cells or CD56+NK cells. Southern blot of the peripheral blood cells using an EBV terminal probe indicated monoclonal proliferation of EBV-infected lymphocytes. Flow cytometry showed the expression of the perforin protein in PBMC. Chromosome analysis of peripheral blood showed the normal male karyotype.The high load of EBV genome DNA had persisted for over 6 months. Therefore, HSCT from a human leukocyte antigen (HLA)-matched sibling donor was planned in October 2005. Just before bone marrow transplantation, the quantity of EBV-DNA was consistently high in peripheral blood. No che...

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Summary:Spinal muscular atrophy(SMA),a degenerative disease of motor neurons,is characterized by atrophy of the proximal muscles of the trunk and limbs.In addition,its prognosis is influenced by the progression of respiratory disorder caused by respiratory muscle atrophy.We encountered a female who was diagnosed with type I SMA based on clinical course and muscle biopsy at eight months old.The patient underwent tracheostomy and mechanical ventilation at the age of two years and eight months,and was discharged to home at the age of three years.She had shown a favorable clinical course for approximately 11 years.At age 14,she developed atelectasis, and exacerbation of respiratory status,despite the aggressive medical therapy.Consequently,she required removing of mucus plug by bronchoscopy.In addition to the primary disease,her condition by scoliosis and tracheomalacia may have been caused by prolonged bedridden state.The patient has been receiving respiratory care based on multidisciplinary cooperation to prevent relapse of plastic bronchitis,and is showing a favorable course.