IntroductionArteriovenous Pearson syndrome is a very rare multisystemic mitochondrial disease characterized by sideroblastic anemia and exocrine pancreatic insufficiency. It is usually fatal in infancy.Case reportWe reported a four-month-old infant presented with fever and pancytopenia. Bone marrow examination showed hypoplastic changes and sideroblastic features. Molecular Study showed a novel hetroplasmic mitochondrial deletions (m. 10760 -m. 15889+) in multiple genes (ND4,ND5,ND6, CYTB). In our patient the pathogenic mutation was 5.1 kb heteroplasmic deletions in multiple genes that are important and crucial for intact oxidative phosphorylation pathway and ATP production in the mitochondrial DNA. This mutation was not reported in literature including the mitomap.org website (which was last edited on Nov 30, 2017 and accessed on Jan 13, 2018).
Introduction: Beta thalassemia major is the commonest inherited hematological disorder worldwide which needs lifelong sufficient supportive management. Hematopoietic stem Cell transplantation (HSCT) is the only curative treatment available till now. Aim: To evaluate the outcome of children who underwent allogenic hematopoietic stem Cell transplantation as a curative approach for Thalassemia Major, treated at Queen Rania AL- Abdullah children Hospital (QRCH) Methods: A retrospective review of the medical files was conducted for all children (< 15 years) who had thalassemia major and received HSCT between January, 2010 and January, 2019. The following variables were studied for all patients: age , gender, Pesaro classifications, the count of infused raw bone marrow stem cell (CD34), engraftment time, outcome and complications. Results: A total of 34 children were transplanted for thalassemia major, at an average of 4 cases per year. All underwent allogenic raw bone marrow transplantation from matched related donors. Thirteen patients (38.2%) were males and twenty one (61.2%) were females. The age ranged between 2 and 15 years, with a median age of 6.5 years. According to Pesaro classification, 31 patients were class 2 (91.2%) and 3 patients were class 3 (8.8%) while no single case met the criteria for class 1 Pesaro classification. The median CD34 count was 3.5 million/Kg of recipient weight (range, 1.5*10 6 -7*10 6 /kg). The median time for neutrophil engraftment was 15.5 days. At a median follow up of 5 years (range 1- 9.5), 33 patients were alive. One patient died before 100 days post transplantation due to grade IV acute gastrointestinal Graft Versus Host Disease (GVHD). Three patients had secondary graft failure (8.8%). Six patients (17.5 %) developed mild grade 1-2 skin GVHD while another patient developed hemorrhagic cystitis due to BK virus and cytomegalovirus (CMV) which reactivated simultaneously, and was successfully managed. Conclusion: The outlook for Thalassemia major has dramatically changed after HSCT, with a considerable success in Jordan and results comparable to international data.
Background: Corona virus disease 2019 (COVID-19) is causing a health crisis nowadays, and all countries are following the recommendations of the WHO to decrease the spread of the disease. Till now, few data are available regarding the clinical course, severity of the disease and the duration of infectivity of COVID-19 in patients received Hematopoietic Stem Cell Transplantation (HSCT). Objective: To evaluate the medical protocols and outcome of patients who underwent HSCT during the pandemic of COVID-19. Methods: A retrospective review of the medical files of patients who underwent hematopoietic stem cell transplantation during the era of COVID-19. The following data were reviewed for all patients: age, gender, primary disease, viral screening protocols for donors and recipients, COVID-19 status and outcome. The European society for blood and marrow transplantation (EBMT) guidelines were applied strictly on all of our patients, donors and bone marrow transplant unit staff. Results: A total of 10 children were transplanted, 8 of them received allogenic transplant from matched donor and two patients received autologous transplant. Regarding allogenic transplants, all of our patients except two were transplanted as an emergency, 2 of them were Aplastic anemia, 2 patients were Fanconi anemia, one patient was Amegakaryocytic thrombocytopenia, and one patient was Acute myeloid leukemia. Only two patients were not an emergency as one of them had Thalassemia major and the other one was Sickle cell anemia. The autologous transplant was done for two patients with Neuroblastoma stage 4 as part of their treatment protocol. At a median follow up of 5.5 months (range, 2 month-7 months) two patients (20%) developed COVID-19, which was asymptomatic in both of them. One of our patients (10%) died due to cytomegalovirus (CMV) pneumonia. No one of our patient was affected by the emergency regulations applied by the country and hospitals during the pandemic of COVID-19 virus. Conclusion: Hematopoietic stem cell transplantation can be performed safely for emergency cases, if we strictly follow the guidelines of EBMT.
Background: Partial arhinia is an extremely rare congenital malformation with an unclear pathogenesis. In this condition, the external nasal structures and nasal passages are absent, and it can be associated with somatic anomalies, other craniofacial abnormalities, severe feeding, and airway compromise. Objective: In this article, we describe a case of a baby born with congenital partial arhinia at Prince Rashid AlHasan Hospital in Irbid, Jordan. Case presentation: Her condition was associated with microcephaly, hypotelorism, cleft palate, microphthalmia, and micrognathia. The baby was the result of an unplanned pregnancy; the mother had received a Zoladex implant 2 months before the pregnancy as a treatment for endometriosis. Conclusion: Congenital partial arhinia could be associated with dangerous life-threatening complications such as feeding and airway compromise. Management of the condition is essential and urgent, including surgical correction as needed by a highly skilled team.
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