OBJECTIVE: Hematopoietic stem cell transplantation has been successfully used to treat the pediatric population with malignant and non-malignant hematological diseases. This paper reports the results up to 180 days after the procedure of all unrelated hematopoietic stem cell transplantations in pediatric patients that were performed in one institution.METHODS: A retrospective review was performed of all under 18-year-old patients who received unrelated transplantations between 1995 and 2009. Data were analyzed using the log-rank test, Cox stepwise model, Kaplan-Meier method, Fine and Gray model and Fisher's exact test.RESULTS: This study included 118 patients (46.8%) who received bone marrow and 134 (53.2%) who received umbilical cord blood transplants. Engraftment occurred in 89.47% of the patients that received bone marrow and 65.83% of those that received umbilical cord blood (p-value < 0.001). Both neutrophil and platelet engraftments were faster in the bone marrow group. Acute graft-versus-host disease occurred in 48.6% of the patients without statistically significant differences between the two groups (p-value = 0.653). Chronic graft-versus-host disease occurred in 9.2% of the patients with a higher incidence in the bone marrow group (p-value = 0.007). Relapse occurred in 24% of the 96 patients with malignant disease with 2-year cumulative incidences of 45% in the bone marrow group and 25% in the umbilical cord blood group (p-value = 0.117). Five-year overall survival was 47%, with an average survival time of 1207 days, and no significant differences between the groups (p-value = 0.4666).CONCLUSION: Despite delayed engraftment in the umbilical cord blood group, graft-versus-host disease, relapse and survival were similar in both groups.

A síndrome de Revesz é uma rara variante de disceratose congênita caracterizada por retinopatia exsudativa bilateral, alterações no segmento anterior ocular, retardo do crescimento intrauterino, pilificação fina e escassa, pigmentação cutânea reticular, falência da medula óssea, calcificações cerebrais, hipoplasia cerebelar e retardo neuropsicomotor. Há variações clínicas significativas entre os poucos relatos desta patologia existentes na literatura. Descrevemos o primeiro caso brasileiro de síndrome Revesz e suas características clínicas e oculares.

Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

Objetivo: Avaliar a correlação dos parâmetros do tensor de difusão com o escore de Loes e se os parâmetros do tensor de difusão poderiam indicar alterações estruturais precoces. Materiais e Métodos: As medidas do tensor de difusão foram obtidas em 30 exames de 14 pacientes com adrenoleucodistrofia ligada ao X e foram correlacionadas com o escore de Loes. Um grupo controle de 28 pacientes masculinos foi avaliado para estabelecer medidas do tensor de difusão pareadas por idade. Análises estatísticas intra e interobservador foram feitas. Resultados: As medidas do tensor de difusão apresentam forte correlação com o escore de Loes segundo o coeficiente de Pearson (r), com valores de –0,86, 0,89, 0,89 e 0,84 para a fração de anisotropia e difusibilidades média, radial e axial (p < 0,01). A análise da mudança nas medidas do tensor de difusão no estágio inicial da doença indica que os valores de difusibilidades média e radial podem ajudar a predizer a progressão da doença. Conclusão: As medidas de parâmetros do tensor de difusão poderiam ser usadas como um adjunto ao escore de Loes, auxiliando no monitoramento da doença e alertando uma possível progressão do escore de Loes na faixa de interesse para decisões terapêuticas.

Objective: The present study was aimed at evaluating the correlation between diffusion tensor imaging parameters and Loes score as well as whether those parameters could indicate early structural alterations. Materials and Methods: Diffusion tensor imaging measurements were obtained in 30 studies of 14 patients with X-linked adrenoleukodystrophy and were correlated with Loes scores. A control group including 28 male patients was created to establish agematched diffusion tensor imaging measurements. Inter- and intraobserver statistical analyses were undertaken. Results: Diffusion tensor imaging measurements presented strong Pearson correlation coefficients (r) of –0.86, 0.89, 0.89 and 0.84 for fractional anisotropy and mean, radial and axial diffusivities (p < 0.01). Analysis of changes in diffusion tensor measurements at early stage of the disease indicates that mean and radial diffusivities might be useful to predict the disease progression. Conclusion: Measurements of diffusion tensor parameters can be used as an adjunct to the Loes score, aiding in the monitoring of the disease and alerting for possible Loes score progression in the range of interest for therapeutic decisions.

O transplante de células-tronco hematopoéticas (TCTH) é o tratamento de escolha para leucemias agudas de alto risco. Apesar da melhora na sobrevida destes pacientes, a recidiva continua sendo a maior causa de óbito pós-transplante de células-tronco hematopoéticas. O objetivo deste trabalho foi analisar os resultados dos transplantes realizados em crianças com leucemia aguda em duas instituições brasileiras. Realizou-se estudo retrospectivo de 208 pacientes transplantados entre 1990-2007. Mediana de idade: 9 anos; 119 pacientes com leucemia linfoide aguda (LLA) e 89 com leucemia mieloide aguda (LMA). Doença precoce: CR1 e CR2. Doença avançada: >CR3, doença refratária ou recidivada. Noventa pacientes vivos entre 258-6.068 dias (M:1.438), com sobrevida global (SG) de 45% (3 anos) e a sobrevida livre de recaída (SLR) 39% (três anos). 14/195 pacientes tiveram falha primária de pega (8%). Não houve diferença na sobrevida global e sobrevida livre de recaída entre pacientes com leucemia linfoide aguda e leucemia mieloide aguda, entre transplantes aparentados e não aparentados, tampouco entre as fontes de células utilizadas. O desenvolvimento da doença do enxerto contra hospedeiro (DECH) aguda ou crônica também não influenciou a sobrevida global e sobrevida livre de recaída. Pacientes com leucemia linfoide aguda condicionados com irradiação corporal total (TBI) apresentaram melhor sobrevida global e sobrevida livre de recaída (p<0,001). Cento e dezoito pacientes morreram entre 1-1.654 dias pós-transplante de células-tronco hematopoéticas (M:160). Mortalidade relacionada a transplante (MRT) (dia+100): 16%. Incidência cumulativa de recaída: 40% (3 anos). Pacientes com doença avançada tiveram menor sobrevida global e sobrevida livre de recaída (três anos)(p<0,001). Na análise multivariada, o status da doença foi o principal fator associado ao aumento da sobrevida global e sobrevida livre de recaída. Nossos resultados mostram que é possível se atingir uma boa sobrevida para pacientes com doença precoce e também mostram a baixa eficácia naqueles com doença avançada.

Hematopoietic Stem Cell transplantation (HSCT) is the treatment of choice for patients with high-risk leukemia. In spite of this, relapse remains a major cause of death of these patients. Our objective was to analyze the outcomes of patients with acute leukemia submitted to hematopoietic stem cell transplantation in two Brazilian institutions. A retrospective study of 208 patients transplanted between 1990 and 2007 with a median age of 9 years (range: 1-18 years) was made. One hundred and nineteen patients had acute lymphocytic leukemia (ALL) and 89 had acute myeloid leukemia (AML). Early disease was considered for CR1 and CR2 cases and advanced disease >CR3 and refractory and relapse disease. Ninety patients are alive between 258 and 6068 days after hematopoietic stem cell transplantation (M: 1438 days). The overall survival (OS) was 45% (3 years) and event free survival (EFS) was 39% (3 years). Primary graft failure occurred in 14/195 patients (8%). There were no differences in the overall survival and event free survival between patients with acute lymphocytic leukemia and acute myeloid leukemia, between sources of cells used or between those who developed acute or chronic graft-versus-host disease (GVHD). When comparing transplants from related and unrelated donors, there was no difference in the overall survival. Patients with acute lymphocytic leukemia receiving the total body irradiation (TBI) conditioning regimen had better overall survival and event free survival (p<0.001). One hundred and eighteen patients died between 0 and 1654 days after hematopoietic stem cell transplantation (M: 160 days). Transplantation-related-mortality (TRM) at D+100 was 16% and cumulative incidence of relapse was 40% (3 years). Patients with advanced disease had lower 3-year overall survival and event free survival (p<0.001). Multivariate analysis showed that disease status was the most significant factor associated with higher event free survival and overall survival . Our results show that children and adolescents transplanted with early disease can achieve considerable overall survival and also highlights the inefficacy of hematopoietic stem cell transplantation for patients with advanced disease.