Intravenous immunoglobulin treatment in a type 3 von Willebrand disease patient with alloantibodies and a life-threatening gastrointestinal bleed

Non peer reviewe

Clinical remission following monoclonal anti-CD20 therapy in two children with chronic refractory idiopathic thrombocytopenic purpura

Two patients, a 4-year-old boy and a 6-year-old girl who had a 2-year and a 3-year history of idiopathic thrombocytopenic purpura, respectively, were referred to our Department. Both patients had frequent haemorrhagic events. They received i.v. immunoglobulin, corticosteroids, cyclosporine, interferon alpha-2b and azathioprine, but no clinical remission was established. The girl also underwent splenectomy. Anti-CD20 antibody was administered to both patients at a dose of 375 mg/m(2) once weekly for 4 weeks. No side-effects were detected. During the 18-month follow-up period the patients received no other drug and remained in clinical remission. The B lymphocytes remained undetectable in peripheral blood for 3 months and they progressively increased during the following 4 months. Rituximab is a novel, quite effective, safe treatment of chronic refractory idiopathic thrombocytopenic purpura in childhood. More studies and follow up of patients for longer periods are necessary

Assessment of the progression of haemophilic arthropathy in children

Arthropathy is considered as an irreversible and progressive complication in patients with haemophilia, even in children on prophylaxis. To estimate the progression of haemophilic arthropathy, 85 joints of 24 boys with severe (n = 18) and moderate (n = 6) haemophilia (A: 22, B: 2) were investigated with clinical examination, X-rays and magnetic resonance imaging (MRI) at two time periods (time 0 and 1). Patients' age at time 0 was 10.5 ± 3.6 years and time elapsed to time 1 was 3.8 ± 1.4 years. At time 0: all investigated joints had more than three bleeds. Sixteen boys were on secondary prophylaxis for 5.4 ± 2.8 years. Clinical score (a modification of World Federation of Haemophilia's scale): 2.0 ± 3.6, X-ray score (Pettersson): 2.1 ± 2.8, MRI score (Denver): 4.5 ± 3.8. After the first evaluation, prophylaxis was intensified in 11 children and initiated in four. At time 1: clinical score: 1.5 ± 3.1, X-ray: 1.7 ± 2.7, MRI score: 5.1 ± 4.1. On average, the clinical and X-ray scores showed a significant improvement (26% and 40% of the joints respectively, P < 0.01) and the number of haemarthroses evidenced a threefold reduction from time 0 to 1 (P < 0.01), findings that could be associated with the modification of prophylaxis after time 0. MRI findings showed deterioration in 34% of the joints. Conversely, 14 joints (16.5%) with mild or moderate synovitis without cartilage degradation at time 0 showed an improvement at time 1. The information carried by the three scales could be divided into information shared by the three scores and information specific to each score, thus giving a more complete picture of joint damage caused by bleedings. © 2009 Blackwell Publishing Ltd

MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

MYH9-related disease (MYH9-RD) is a rare autosomal dominant syndromic disorder caused by mutations in MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (myosin-9). MYH9-RD is characterized by congenital macrothrombocytopenia and typical inclusion bodies in neutrophils associated with a variable risk of developing sensorineural deafness, presenile cataract, and/or progressive nephropathy. The spectrum of mutations responsible for MYH9-RD is limited. We report five families, each with a novel MYH9 mutation. Two mutations, p.Val34Gly and p.Arg702Ser, affect the motor domain of myosin-9, whereas the other three, p.Met847_Glu853dup, p.Lys1048_Glu1054del, and p.Asp1447Tyr, hit the coiled-coil tail domain of the protein. The motor domain mutations were associated with more severe clinical phenotypes than those in the tail domain