Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea

BACKGROUND: Diamond Blackfan anemia (DBA), characterized by impaired red cell production, is a rare condition that is usually symptomatic in early infancy. The purpose of this study was to assess nationwide experiences of DBA encountered over a period of 20 years. METHODS: The medical records of 56 patients diagnosed with DBA were retrospectively reviewed from November 1984 to July 2010. Fifteen institutions, including 13 university hospitals, participated in this study. RESULTS: The male-to-female ratio of patients with DBA was 1.67:1. The median age of diagnosis was 4 months, and 74.1% were diagnosed before 1 year of age. From 2000 to 2009, annual incidence was 6.6 cases per million. Excluding growth retardation, 38.2% showed congenital defects: thumb deformities, ptosis, coarctation of aorta, ventricular septal defect, strabismus, etc. The mean hemoglobin concentration was 5.1+/-1.9 g/dL, mean corpuscular volume was 93.4+/-11.6 fL, and mean number of reticulocytes was 19,700/mm3. The mean cellularity of bone marrow was 75%, with myeloid:erythroid ratio of 20.4:1. After remission, 48.9% of patients did not need further steroids. Five patients with DBA who received hematopoietic transplantation have survived. Cancer developed in 2 cases (3.6%). CONCLUSION: The incidence of DBA is similar to data already published, but our study had a male predilection. Although all patients responded to initial treatment with steroids, about half needed further steroids after remission. It is necessary to collect further data, including information regarding management pathways, from nationwide DBA registries, along with data on molecular analyses.

Frequency and clinical characteristics of prenatally diagnosed congenital hydronephrosis and outcomes of ureteropelvic junction stenosis / 소아과

PURPOSE: Popular use of fetal ultrasonography has increased to detect congenital hydronephrosis(CH) which is the most common anomaly prenatally detected. We'd like to determine the frequency and clinical characteristics of prenatally diagnosed CH and outcome of ureteropelvic junction stenosis(UPJS). METHODS: The records of births between January 1994 and June 2003 in Chonnam National University Hospital(CNUH), and the records of children who were diagnosed with CH in the Department of Pediatrics of CNUH during the above period, were retrospectively analyzed. In the patients with UPJS, the initial anterior posterior diameters of renal pelvis(APD) were compared between the spontaneous regression (SR) and operation group(OP). In the SR group, sequential regression rates of APD were estimated. RESULTS: Among a total 9,076 births, 231(2.54 percent) patients with 293 renal units were diagnosed as CH and 19(6.78 percent) renal units spontaneously regressed 3 days after birth. In 228 children(56 bilateral; 172 unilateral; total 284 renal units) diagnosed with CH in the department of pediatrics of CNUH, male(71.9 percent) and left kidney(69.2 percent) predilection were found and 78.1 percent of CH were caused by UPJS. The initial APD of the SR group(121 units) in UPJS was 7.8+/-6.28 mm, which was significantly smaller than the APD(26.8+/-12.14 mm) of the OP group(25 unit)(P<0.05). In the SR group, 81 percent spontaneously regressed within one year. CONCLUSIONS: In CH, male and left kidney predilection were found. UPJS was the most common cause of CH and initial APD in UPJS at 3 days of age was a good prognostic indicator. Close monitoring should be done for at least one year because most SR in UPJS regressed spontaneously within one year.

Isolated Intracranial Granulocytic Sarcoma as a Relapse Following Unrelated Bone Marrow Transplantation for Myelodysplastic Syndrome in a 1 Year-Old Infant / 소아과

Isolated relapse of myeloid leukemia as a granulocytic sarcoma(GS) following allogeneic bone marrow transplantation(BMT) is very rare manifestation, and usually associated with a poor prognosis. We report a case of isolated intracranial GS in an infant with myelodysplastic syndrome(MDS) following unrelated BMT. A 7 month-old girl was diagnosed with refractory anemia with excess blasts (RAEB). During observation for a couple months several GS developed in the scalp and blast counts in BM increased. Induction chemotherapy resulted in partial remission of BM but GS disappeared. Four months after diagnosis, an unrelated BMT was undertaken. Engraftment was uneventful. On D+160, an intracranial GS of 6.5 cm in size developed. A craniotomy and tumor removal was done. There was no evidence of relapse in BM with complete chimerism. Reinduction chemotherapy using IDA-FLAG resulted in profound neutropenia with pneumonia. She succumbed to respiratory failure despite leukocyte recovery. The optimal management for isolated relapse as GS following BMT should be established.

Two Cases of Malignant Lymphomas in Children with Selective IgA and IgG Subclass Deficiency / 대한소아혈액종양학회지

Selective IgA deficiency is one of the most common primary immunodeficiency. Some patients with IgA deficiency also have deficits in one or more immunoglobulin G subclasses. It has been estimated that up to 25% of patients with certain primary immunodeficiencies will develop tumors, primarily B-cell lymphomas during their lifetime. We hereby present 2 cases of malignant lymphomas, one diffuse large cell lymphoma and another mixed cellularity Hodgkin's disease, respectively, which developed in patients with selective IgA and IgG subclass deficiency.

Complications and Perinatal Factors According to the Birth Weight Groups in the Infants of Diabetic Mothers

PURPOSE: This study was performed to compare complications and perinatal factors according to the birth weight groups in the infants of diabetic mothers(IDM). METHODS: Three hundred and one singleton diabetic mothers and their babies of more than 30 weeks' gestational age admitted in the department of Pediatrics, Chonnam University Hospital from January 1996 to March 2002 were enrolled. Complications and perinatal factors were compared between large for gestational age(LGA) and appropriated for gestational age(AGA) infants. RESULTS: Hypomagnesemia was observed in 37.5%, jaundice in 21.3%, hypoglycemia in 11.1%, hypocalcemia in 7.0%, and birth injury in 19.6%. Congenital anomaly was noted in 24.9% with cardiovascular anomaly most commonly. In the LGA group, the frequencies of jaundice, hypoglycemia, tachypnea, and birth injuries were higher, and the interventricular septum was thicker than the AGA group. In the LGA group, Cesarean section rate, maternal height, weight before pregnancy, weight gain during pregnancy, and the incidence of unawareness of gestational DM were significant compared with the AGA group. CONCLUSION: In the LGA group, the frequencies of jaundice, hypoglycemia, tachypnea, and birth injuries were higher, and the interventricular septum was thicker than the AGA group. In the LGA group, maternal height, weight before pregnancy and weight gain during pregnancy were larger, and the incidence of unawareness of gestational DM was higher compared with the AGA group. These results suggest that careful examination and management are needed to detect the high risk, pregnant DM mothers with possible LGA babies.

MYH9-related Disorder in a Family: Autosomal Dominant Epstein Giant Platelet Syndrome / 대한소아혈액종양학회지

The term MYH9-related disorders indicates a group of autosomal dominant illnesses, formerly known as May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome and Epstein syndrome, caused by mutations of MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (NMMHC-IIA). We experienced a family with macrothrombocytopenia without leukocyte inclusion. A 5-year-old girl was found to have macrothrombocytopenia incidentally. Her father also had macrothromtocytopenia, but had been suffering from hearing loss and chronic renal failure. Meticulous search by light and electron microscopy failed to detect leukocyte inclusions. To our knowledge, these cases seem to be the first description of autosomal dominant Epstein giant platelet syndrome in Korea.

Effects of Single Fetal Death on Mother and Live Co-twin in Twin Pregnancy

PURPOSE: Twins have a higher mortality and morbidity than singletons. Co-twin with one fetal death is particularly at risk. We investigated the neonatal outcome of live co-twins when one fetus had died after the 20th gestational week, and associated risk factors. METHODS: A retrospective study was performed in fifteen cases of twin pregnancy with single intrauterine fetal deaths after the 20th gestational week during the period from January 1996 to December 2000 at Chonnam University Hospital. RESULTS: Gestational age was 33.7+/-3.2 weeks, birth weight was 1,992+/-592 g. Interval between one fetal death being detected and the delivery of a live co-twin was 32.4+/-29.5 days. There were 11 cases(73.3%) of premature babies less than 37 gestational weeks. Main causes of preterm delivery were preterm labor and premature rupture of membranes. Hematologic findings suggesting disseminated intravascular coagulopathy(DIC) were not found in all mothers before delivery, and was not associated with DIC and encephalomalacia of the live co-twin. Perinatal outcome of fifteen live co-twins was as follows : six were normal(40%), three were DIC(20.0%), three were encephalomalacia(20.0%), one suffered intrauterine growth retardation, there was one case of twin to twin transfusion syndrome, and one of congenital heart disease(atrial septal defect with pulmonary stenosis). The occurrence of DIC and encephalomalacia in live co-twins was not related to placental chorionicity, birth weight, gestational week, and the interval between the detection one fetal death and the delivery of a live co-twin. CONCLUSIONS: We could not find any maternal hematologic problems in twin pregnancies complicated by one fetal death. Twenty percent of live co-twins showed DIC and encephalomalacia. However, its associated risk factors were not found. We need to investigate more closely the cases of live co-twins with one intrauterine fetal death.

Hematologic Findings of Toxemia Mothers and Their Babies / 대한주산의학회잡지

OBJECTIVE: Hematologic abnormalities in toxemia mothers and their babies have been documented. The purpose of this study was to explore the hematologic findings in mothers with toxemia and postnatal hematologic findings in their babies. The relationship of hematologic findings between toxemia mothers before delivery and their babies immediately after birth was also examined. METHODS: Forty-six pairs of singleton toxemia mothers and their babies born by C-section with 28 to 35 weeks of gestation from Jan. 1995 to Dec. 1999 were enrolled. Fifty pairs of singleton normotensive mothers and their babies with the same gestational period and delivery method were matched for control group. Blood samples of mothers were performed before delivery, and those of their babies, were done immediately after birth, day 3 and 7 of life. Hemoglobin(Hb) concentration, total white blood cell(WBC) count, absolute neutrophil count(ANC), and platelet count were examined. RESULTS: Toxemia mothers have significantly lower platelet count compared with controls(191,000+/-83,200/mm3 vs. 252,000+/-92,700/mm3, p<0.05). There were no difference between both groups in Hb, WBC and ANC. On the first day of life, Hb was significantly higher(16.97+/-2.36g/dL vs 14.32+/-1.5g/dL, p<0.05), but WBC, ANC and platelet count were significantly lower in babies born to toxemia mothers than those of control group(p<0.05 for all). In babies born to toxemia mothers, Hb was significantly decreased until the seventh day of life(16.97g/dL, 15.48g/dL, 14.61g/dL, p<0.05), however, WBC and platelet count were significantly decreased until the third day of life and then incresed until the seventh day of life(11,832/mm3, 8,334/mm3, 10,104/mm3 for WBC, p<0.05, and 152,220/mm3, 144,720/mm3, 214,090/mm3 for platelet, p<0.05, respectively). CONCLUSION: Hemoglobin concentration was significantly higher, whereas WBC, ANC and platelet were significantly lower in babies of toxemia mothers than those of control group. In babies born to toxemia mothers, Hb was significantly decreased until the seventh day of life, however, WBC and platelet count were significantly decresed until the third day and then increased until the seventh day of life. There was no relationship between hematologic findings of toxemia mothers and their babies.

Multifocal Brain Infarction and Intraventricular Hemorrhage in an Infant during Treatment of Diabetic Ketoacidosis / 대한소아내분비학회지

Fatal complications including cerebral edema and neurologic collapse occur during treatment of diabetic ketoacidosis(DKA). A 6-week-old female infant with fever, dehydration and drowsy mental status was diagnosed as DKA and neurologically deteriorated during treatment. The cranial computed tomography scan revealed multifocal brain infarctions of the left caudate nucleus, bilateral frontal periventricular white matter, and right parietal cortex. A moderate amount of hemorrhage was also noted in both lateral ventricles. She recovered rapidly with supportive treatment over time. The clinical course and radiologic findings of this patient emphasize the importance of brain infarction as a cause of persistent neurologic loss in children with DKA.