Thiamine-responsive Megaloblastic Anemia Syndrome in a Mother and Five Daughters / 대한소아혈액종양학회지

Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an early-onset autosomal recessive disorder characterized by megaloblastic anemia with ringed sideroblasts, diabetes mellitus and progressive sensorineural deafness, all of which respond in varying degrees to the administration of thiamine, in pharmacologic doses. TRMA syndrome has been reported in less than 30 families, but has never been reported in Korea. It has been demonstrated recently that TRMA is consistently associated with a defect in thiamine transport across cellular membranes and with impaired intracellular pyrophosphorylation. The TRMA syndrome gene, SCL19A2, locates on chromosome 1q23.2-23.3, and encodes a high-affinity thiamine transporter protein. We recently experienced 6 cases of thiamine-responsive megaloblastic anemia syndrome in a family, including a mother and five daughters. All the six cases revealed megaloblastic anemia refractory to vitamin B12 and folic acid therapy but responded to thiamine. We report the cases with a brief review of the literature.

Effect of Delayed Intensification on Survival of Childhood Acute Lymphoblastic Leukemia

PURPOSE: In 1970, the Berlin-Frankfurt-Munster(BFM) group introduced an intensification therapy after remission induction to reduce relapse of acute lymphoblastic leukemia(ALL) in childhood. Delayed intensification(DI) phase has been included for treatment of ALL in our hospital since the mid-1990s. The purpose of this study is to evaluate the outcome with vs. without DI phase and the outcome with two vs. one DI phase for intermediate risk patients. METHODS: One hundred and thirty nine children with ALL who were treated at the Department of Pediatrics of Wonju Christian Hospital and Yonsei University Medical Center between March, 1990 and July, 2002 were analysed retrospectively. RESULTS: Thirty-eight patients were treated with a DI phase, and 101 patients were treated without a DI phase. Among the DI patients, seven patients were treated with a double DI phase. Five-year overall survival(OS) in the low, intermediate, and high risk groups were 68%, 66% and 58%, respectively. 5-year OS in DDI, DI, and control were 95%, 86% and 40%, espectively. In the low risk group, 5-year event free survival(EFS) in DI, and control were 94% and 58%, respectively. CONCLUSIONS: Delayed intensification improved EFS on childhood ALL in all risk groups.

Down Syndrome with Transient Myeloproliferative Disorder, Hepatic Fibrosis, and Hemochromatosis

Transient myeloproliferative disorder (TMD), which may mimic acute leukemia, occurs in neonates with Down syndrome along with hepatic fibrosis. TMD is recognized shortly after birth or in the neonatal period and is characterized by leukocytosis and thrombocytopenia, which resolve spontaneously in four to six weeks. And hepatic fibrosis is characterized by diffuse intralobular sinusoidal fibrosis, extramedullary hematopoiesis and hemochromatosis. A newborn male infant with Down syndrome, atrial septal defect and ventricular septal defect is reported. He showed abnormal myelopoiesis accompanying characteristic hepatic sinusoidal fibrosis. Knowing the cellular mechanism of hepatic fibrosis and its modulation by growth factors, a pathogenetic link between transient myeloproliferative disorder and the development of liver fibrosis in Down syndrome neonates, association of this triad no longer appears to be accidental.