Wiskott-Aldrich syndrome with possible congenital Cytomegalovirus infection: A diagnostic dilemma.

Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder, characterized by thrombocytopenia, eczema and recurrent infections. We report a 4-month-old boy who presented with respiratory distress, petechiae, organomegaly and eczema. He was admitted to the paediatric intensive care unit because of severe respiratory distress due to Cytomegalovirus (CMV) infection. As peripheral blood smear showed microthrombocytopenia, Sanger gene sequencing was performed, which confirmed the diagnosis of WAS. This rare combination of possible congenital CMV infection in the background of WAS, misled the initial diagnosis.

Determining the incidence of heart malformations in neonates: A novel and clinically approved solution.

Background: Screening for critical congenital heart defects should be performed as early as possible and is essential for saving the lives of children and reducing the incidence of undetected adult congenital heart diseases. Heart malformations remain unrecognized at birth in more than 50% of neonates at maternity hospitals. Accurate screening for congenital heart malformations is possible using a certified and internationally patented digital intelligent phonocardiography machine. This study aimed to assess the actual incidence of heart defects in neonates. A pre-evaluation of the incidence of unrecognized severe and critical congenital heart defects at birth in our well-baby nursery was also performed. Methods: We conducted the Neonates Cardiac Monitoring Research Project (ethics approval number: IR-IUMS-FMD. REC.1398.098) at the Shahid Akbarabadi Maternity Hospital. This study was a retrospective analysis of congenital heart malformations observed after screening 840 neonates. Using a double-blind format, 840 neonates from the well-baby nursery were randomly chosen to undergo routine clinical examinations at birth and digital intelligent phonocardiogram examinations. A pediatric cardiologist performed echocardiography for each neonate classified as having abnormal heart sounds using an intelligent machine or during routine medical examinations. If the pediatric cardiologist requested a follow-up examination, then the neonate was considered to have a congenital heart malformation, and the cumulative incidence was calculated accordingly. Results: The incidence of heart malformations in our well-baby nursery was 5%. Furthermore, 45% of heart malformations were unrecognized in neonates at birth, including one critical congenital heart defect. The intelligent machine interpreted innocent murmurs as healthy heart sound. Conclusion: We accurately and cost-effectively screened for congenital heart malformations in all neonates in our hospital using a digital intelligent phonocardiogram. Using an intelligent machine, we successfully identified neonates with CCHD and congenital heart defects that could not be detected using standard medical examinations. The Pouya Heart machine can record and analyze sounds with a spectral power level lower than the minimum level of the human hearing threshold. Furthermore, by redesigning the study, the identification of previously unrecognized heart malformations could increase to 58%.

A case report of severe veno-occlusive disease following autologous stem cell transplantation successfully treated with Defibrotide.

Veno-occlusive disease (VOD) is one of the complications of hematopoietic stem cell transplantation that can also be caused by high-dose chemotherapy. This complication can lead to high mortality following bone marrow transplantation. It is more common after allogeneic stem cell transplantation, and is rare after autologous stem cell transplantation. While mild cases of VOD may reduce over a period of a few weeks, very severe cases can cause multi-organ damage, which has a high mortality. is therefore required with early diagnosis and treatment of this complication. In this paper, we present a sever VOD case after autologous stem cell transplantation, that was treated successfully with Defibrotide. The patient was a 14-month-old girl who has neuroblastoma with bone metastasis. VOD should be considered in the differential diagnosis of haematopoietic stem cell transplantation recipients who present with unexplained liver injuries, ascites and/or multi organ failure. Recipients of haematopoeitic stem cell transplantation who present with unexplained liver injuries, ascites and/or multi organ failure should have VOD considered in their differential diagnosis. If there is severe VOD diagnosed, then Defibrotide could be an option for treatment.

Detection of New Translocation in Infant Twins with Concordant ALL and Discordant Outcome.

About 2-5% of acute lymphoblastic leukemia (ALL) cases in pediatric patients are infants with an unfavorable prognosis because of high relapse probability. Early detection of the disease is, therefore, very important. Despite the fact that leukemia in twins occurs rarely, more attention has been paid to it in genetic studies. In the present study, through cytogenetic testing, a special case of concordant ALL in monozygotic twins was presented with different outcomes. In spite of an acceptable initial consequence to medical treatment in twins, in another brother (Twin B), early relapse was observed. In the cytogenetic study, both twins expressed t (4; 11) (q21; q23) while twin A expressed t (2; 7) (p10; q10). No cases have previously reported this mutation. Whether this translocation has a protective role for leukemia with mixed-lineage leukemia (MLL) gene rearrangement is still unclear. The difference in the translocation identified in the identical twins is also subject to further investigations.

New translocation in acute myeloid leukemia M4 eos.

The most common childhood malignancy is acute leukemia. Approximately 15- 20% of it, is Acute myeloid leukemia (AML). The general symptoms of this malignancy include fatigue, weakness, fever, paleness and bleeding disorders. There are two methods of classifying for AML: The French-American-British (FAB) and the World Health Organization (WHO) classification.The M4 eos subtype, also called myelomonocytic leukemia, is one subtype of AML with eosinophilia. The most common cytogenetic variations in this leukemia include inv (16) (p13q22) or the variant t (16; 16) (p13; q22). In this report, we present the first AML-M4 eos case with a new translocation that has not yet been reported.