Successful cardiac transplantation in Barth syndrome--single-centre experience of four patients

We describe four patients with Barth syndrome who have undergone successful orthotopic heart transplantation. Patients are one, seven, 12.5 and 14.7 yr post-transplantation. One episode of severe infection occurred. Renal dysfunction and coronary allograft vasculopathy do not appear accelerated over non-Barth patients. Despite withholding purine synthesis inhibitors, these patients have not demonstrated an increased rate of rejection.     

Successful haploidentical PBSCT with subsequent T‐cell addbacks in a boy with HyperIgM syndrome presenting as severe congenital neutropenia

Jasinska A, Kalwak K, Trelinska J, Borowiec M, Piatosa B, Zeman K, Mlynarski W. Successful haploidentical PBSCT with subsequent T‐cell addbacks in a boy with HyperIgM syndrome presenting as severe congenital neutropenia. Abstract: HIGM syndrome is a group of primary immunodeficiency disorders characterized by recurrent bacterial and opportunistic infections; it is also associated with normal to elevated serum IgM levels and a concomitant deficiency of IgG, IgA, and IgE. In this report, we give account of a boy with X‐linked HIGM and a novel Y172C mutation within his CD40LG gene. He presented with severe neutropenia as the dominating symptom. His bone marrow showed maturation arrest at the promyelocyte/myelocyte stage, typical of congenital neutropenia. This boy suffered from life‐threatening infections and required high doses of rhG‐CSF, and a haploidentical PBSCT was also successfully performed, thus leading to reconstitution of CD40L expression on activated CD4+ T cells (as assessed with flow cytometry six months after the procedure). Two low‐dose T‐cell addbacks were required to re‐establish full donor chimerism and clear CMV reactivation. The report demonstrates that in select cases, alternative donor allogeneic HSCT supported by DLI may be effective in correcting the defect in X‐linked HIGM, and HSCT in HIGM children is not necessarily limited to matched sibling donor transplantation.     

Serratia marcescens lung abscess in a child with autoimmune neutropenia

Though Serratia marcescens is widely known to be the cause of serious infections in immuno-compromised hosts, a lung abscess caused by S. marcescens is very rare. A 5 year old boy who had previously been diagnosed with autoimmune neutropenia was admitted because of fever and cough. In spite of treatment with some antibiotics, he developed a lung abscess. Aspiration of the pleural fluid revealed that S. marcescens was the pathogen of the disease. In the present case, there were feasible risk factors for the development of Serratia lung abscess namely neutropenia, chronic gingivitis at the time, and treatment with cyclosporin A. There are no reported cases of autoimmune neutropenia which developed into a S. marcescens lung abscess in the literature as far as we can determine.     

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??The respiratory and circulatory support treatments are essential to critically ill viral encephalitis and postinfectious encephalitis patients in PICU. This support treatments ensure other therapy measures to give full play and can reduce braindamage and win time for recovery. Respiratory and circulatory dysfunction is common in severe encephalitis patients. Early and proper respiratory and circulatory support treatments can help to bring down the mortality and improve its prognosis.     

Refractory cardiogenic shock in a patient with β‐thalassemia major requiring mechanical circulatory support: Case report and literature review

Iron overload cardiomyopathy secondary to β‐thalassemia major is a potentially reversible condition managed with chelation and medical hemodynamic support, as bridge‐to‐recovery or transplant. We describe our experience, and challenges faced, in a pediatric patient with iron overload cardiomyopathy secondary to β‐thalassemia major, requiring biventricular MCS.     

Mosaic tetraploidy and transient GFI1 mutation in a patient with severe chronic neutropenia

This report presents the case of a 15-year-old male with severe chronic neutropenia, leukopenia, and persistent tetraploid mosaicism in the bone marrow and peripheral blood. His father had mild neutropenia and bone marrow tetraploidy. Flow cytometric analysis of DNA content peripheral blood showed tetraploidy in 20% of granulocytes and 15% of monocytes. Sequence analysis of the ELA2 gene was normal, but the GFI1 gene exhibited transient appearance of single base changes the coding region and promoter. We speculate that an underlying genetic defect, inherited in an autosomal dominant pattern, leads to both disordered mitosis and neutropenia in this kindred.     

Intracoronary administration of autologous bone marrow-derived progenitor cells in a critically ill two-yr-old child with dilated cardiomyopathy

Abstract:  DCM is the most common cardiomyopathy in childhood. Effectiveness of anticongestive therapy is limited in most cases and about one-third of children diagnosed with DCM die or receive heart transplantation within the first year after diagnosis. Cardiac stem cell transplantation has become a promising therapy to treat heart failure in adult patients. Based on these promising results, the cardiac stem cell therapy might also represent a new therapeutic option particularly in young children. The present case documents for the first time intracoronary administration of autologous bone marrow-derived progenitor cells in a critically ill two-yr-old child with severe heart failure caused by DCM. Because of progressive worsening of the clinical condition despite maximal anticongestive treatment, the decision to perform autologous stem cell therapy was made. Cardiac stem cell therapy proved to be technically feasible, was associated with improvement in cardiac function, and might represent an option before heart transplantation in children with severe heart failure.     

Successful ABO-incompatible heart transplantation in a child despite blood-group sensitization after ventricular assist device support

Abstract:  In the first two yr of life blood-group incompatible (ABO-incompatible) heart transplantation can be performed leading to immune tolerance to donor blood group. Antibody titers should be below 1:4. VAD use is correlated with sensitization toward blood-group antigens. A boy was diagnosed with dilated cardiomyopathy at nine months of age and listed for 0-compatible transplantation. Progressive heart failure required implantation of a left VAD. His listing was extended for ABO-incompatible transplantation despite antibody titers of 1:32 anti-A and 1:8 anti-B. After 26 days on VAD, he was transplanted with a B donor heart. No hyperacute or acute rejection occurred in 12 months post-transplant. Anti-B antibodies rose to a maximum of 1:2. No use of rituximab or plasmapheresis was required. There are no signs of graft vasculopathy. This indicates that inclusion criteria for ABO-incompatible transplantation may be extended to immediate cases. This is the first case with a healthy immune system to show signs of tolerance development after ABO-incompatible heart transplantation with increased prior antibody titers and without specific treatment.     

Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities

Kostmann disease or severe congenital neutropenia (SCN) is an autosomal recessive disorder of neutrophil production. Homozygous HAX1 mutations were recently identified in SCN patients belonging to the original family in northern Sweden described by Kostmann. Moreover, recent studies have suggested an association between neurological dysfunction and HAX1 deficiency. Here we describe a patient with a compound heterozygous HAX1 mutation consisting of a nonsense mutation (c.568C > T, p.Glu190X) and a frame‐shift mutation (c.91delG, p.Glu31LysfsX54) resulting in a premature stop codon. The patient has a history of neutropenia and a propensity for infections, but has shown no signs of neurodevelopmental abnormalities. Pediatr Blood Cancer 2009;53:1143–1146. © 2009 Wiley‐Liss, Inc.