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.

Circadian Rhythm of Peak Expiratory Flow Rate in Asymptomatic Childhood Asthma / 소아알레르기및호흡기학회지

PURPOSE: Asthmatic patients show marked circadian variation in disease severity, with bronchospasm far worse between midnight and 8 a.m. than at other times of the day. And many studies have demonstrated that symptoms are much relieved in the day-time while they worsen at night. Our study was conducted to examine the circadian variation of peak expiratory flow rate (PEFR) in asymptomatic asthmatic children after proper treatment by mini-Wright peak flow meter. METHODS: Thirty four asthmatic patients who have had no respiratory symptoms for the past one month were enrolled to our study. Control group included 25 patients who were admitted to Wonju Christian Hospital for inguinal hernia, aseptic meningitis, etc., but without respiratory symptoms. RESULTS: The mean age was 6.3 years, ranging from 4 to 11 years, in the stable asthmatic group. In control group, the mean age was 8.7 years ranging from 4 to 14 years. PEFR was checked at every 2 hours from 8 a.m. to 10 p.m. for 4 days. There were no significant differences in PEFR checked at all times between the asthma group and the control group except for the PEFR checked at 8 a.m. in moderate persistent asthma group. PEFR reached the nadir at 8 a.m. in both asthma and control groups. It rose to the highest level in the afternoon, then, it slightly fell in the evening and at night. There were significant differences between the PEFR checked at 8 a.m. and the PEFR checked at any other period of the day in each group (P< 0.05). The circadian variation in moderate persistent asthma group is much greater than that of other groups. CONCLUSION: Our study indicates that the moderate persistent asthma group with no current symptoms of asthma has an increased circadian variability. It is recommended, therefore, that special attention be paid to preventive treatment for the moderate persistent asthma group.

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.