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Alpha-mannosidosis is a rare lysosomal storage disorder with an autosomal recessive inheritance. Deficient alpha-mannosidase activity leads to lysosomal accumulation of mannose-rich oligosaccharides. The disease characterized by mental retardation, skeletal changes, hearing impairment, and recurrent infections. Stem cell transplantation has been shown to be an effective treatment. It works by providing increased levels of α-mannosidase in the localized extracellular milieu to provide improvements in skeletal malformations, neurocognitive, and sensorineural function. In this case report, we describe a pair of siblings with α-mannosidosis who successfully underwent HSCT from matched unrelated donors. In both siblings, enzyme levels reached to normal limits and improvements in clinical symptoms were recognized early after HSCT. We conclude that HSCT should be considered as a therapeutic approach in patients with alpha-mannosidosis before disease-related complications have developed., (© 2012 John Wiley & Sons A/S.)

Allogeneic hematopoetic stem cell transplantation (HSCT) is the only radical cure of beta-thalassemia. However, iron overload remains a cause of morbidity and mortality in posttransplant period. The authors present 7 patients as a preliminary report who underwent bone marrow transplant (BMT) and received oral chelating therapy (deferasirox) because of poor compliance to phlebotomy and desferrioxamine. The patients investigated mainly for possible side effects of deferasirox. No negative effect was seen in aspartate aminotransferase (AST), alanine aminotransferase (ALT), hemoglobin (Hb), and donor chimerism of the patients while serum ferritin levels significantly reduced (P = .018). Although serum creatinin significantly increased (P = .034), it was in normal limits in all patients. The authors believe that this report shows promising findings to plan further studies to clarify clinical safety and efficacy of deferasirox in posttransplant period.

Background: Data on the risk factors and outcomes for pediatric patients with SARS‐CoV‐2 infection (COVID‐19) following hematopoietic stem cell transplantation (HSCT) are limited. Objectives: The study aimed to analyze the clinical signs, risk factors, and outcomes for ICU admission and mortality in a large pediatric cohort who underwent allogeneic HSCT prior to COVID‐19 infection. Method: In this nationwide study, we retrospectively reviewed the data of 184 pediatric HSCT recipients who had COVID‐19 between March 2020 and August 2022. Results: The median time from HSCT to COVID‐19 infection was 209.0 days (IQR, 111.7–340.8; range, 0–3845 days). The most common clinical manifestation was fever (58.7%). While most patients (78.8%) had asymptomatic/mild disease, the disease severity was moderate in 9.2% and severe and critical in 4.4% and 7.6%, respectively. The overall mortality was 10.9% (n: 20). Deaths were attributable to COVID‐19 in nine (4.9%) patients. Multivariate analysis revealed that lower respiratory tract disease (LRTD) (OR, 23.20, p:.001) and lymphopenia at diagnosis (OR, 5.21, p:.006) were risk factors for ICU admission and that HSCT from a mismatched donor (OR, 54.04, p:.028), multisystem inflammatory syndrome in children (MIS‐C) (OR, 31.07, p:.003), and LRTD (OR, 10.11, p:.035) were associated with a higher risk for COVID‐19‐related mortality. Conclusion: While COVID‐19 is mostly asymptomatic or mild in pediatric transplant recipients, it can cause ICU admission in those with LRTD or lymphopenia at diagnosis and may be more fatal in those who are transplanted from a mismatched donor and those who develop MIS‐C or LRTD. [ABSTRACT FROM AUTHOR]

We examined outcomes of 51 pediatric patients with relapsed acute leukemia (AL) who underwent a second allogeneic hematopoietic stem cell transplantation (alloHSCT). After a median follow-up of 941 days (range, 69–2842 days), leukemia-free survival (LFS) and overall survival (OS) at 3 years were 26.6% and 25.6%, respectively. The nonrelapse mortality rate (NMR) and cumulative incidence of relapse (CIR) were 36.4% and 42.4%, respectively. The Cox regression analysis demonstrated that the risk factors at second transplantation for predicting limited LFS were active disease (hazard ratio (HR) = 5.1), reduced intensity conditioning (RIC) (HR = 5.0), matched unrelated donor (MUD) (HR = 3.4) and performance score <80 (HR = 3.2). Pediatric patients with AL who relapsed after their first alloHSCT may survive with a second alloHSCT. Disease status, conditioning intensity, donor type, and performance score at the second transplantation are the relevant risk factors. A score based on these factors may predict the results of the second transplantation. [ABSTRACT FROM AUTHOR]

We examined outcomes of 62 pediatric patients with relapsed or refractory non-Hodgkin lymphoma (rr-NHL) who underwent hematopoietic stem cell transplantation (HSCT). The overall survival (OS) and event-free survival (EFS) rates were 65% and 48%, respectively. Survival rates for patients with chemosensitive disease at the time of HSCT were significantly higher than those of patients with chemoresistant disease (69% vs. 37%,p = .019 for OS; 54% vs. 12%,p < .001 for EFS; respectively). A chemoresistant disease at transplantation was the only factor that predicted a limited OS (hazard ratio = 10.00) and EFS (hazard ratio = 16.39) rates. Intensive chemotherapy followed by HSCT could be an effective strategy for treating children with rr-NHL and may offer improved survival for a significant group of pediatric patients, particularly those with chemosensitive disease at transplantation. [ABSTRACT FROM AUTHOR]

Allogeneic hematopoetic stem cell transplantation (HSCT) is the only radical cure of β-thalassemia. However, iron overload remains a cause of morbidity and mortality in posttransplant period. The authors present 7 patients as a preliminary report who underwent bone marrow transplant (BMT) and received oral chelating therapy (deferasirox) because of poor compliance to phlebotomy and desferrioxamine. The patients investigated mainly for possible side effects of deferasirox. No negative effect was seen in aspartate aminotransferase (AST), alanine aminotransferase (ALT), hemoglobin (Hb), and donor chimerism of the patients while serum ferritin levels significantly reduced ( P = .018). Although serum creatinin significantly increased ( P = .034), it was in normal limits in all patients. The authors believe that this report shows promising findings to plan further studies to clarify clinical safety and efficacy of deferasirox in posttransplant period. [ABSTRACT FROM AUTHOR]