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Case Report
A case of mosaic ring chromosome 13 syndrome
Soo Young Kim, Soo Min O, Mi Jeong Kim, Eun Song Song, Young Ok Kim, Young Youn Choi, Young Jong Woo, Tai Ju Hwang
Clin Exp Pediatr. 2009;52(2):242-246.   Published online February 15, 2009
The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we...
Costello syndrome: three sporadic cases
Ji Youn Kim, Mi Jeong Kim, Eun Song Song, Young Kuk Cho, Young Youn Choi, Jae Sook Ma
Clin Exp Pediatr. 2007;50(10):1024-1029.   Published online October 15, 2007
Costello syndrome (CS) is a rare multiple congenital abnormality syndrome characterized by a typical coarse face, developmental delay, psychomotor and growth retardation, neurologic abnormalities, cardiac and cutaneous anomalies, severe feeding difficulties with postnatal growth failure, and increased risk of tumors. Since Costello first described it in 1971 and again in 1977, over 100 cases have been reported worldwide. It was...
Original Article
Fluconazole prophylaxis in high-risk, very low birth weight infants
Soo Young Kim, Soon Joo Lee, Mi Jeong Kim, Eun Song Song, Young Youn Choi
Clin Exp Pediatr. 2007;50(7):636-642.   Published online July 15, 2007
Purpose : Fluconazole prophylaxis for very low birth weight (VLBW) infants has been shown to reduce invasive fungal infection and its mortality. This study aims to evaluate the effect of fluconazole prophylaxis in VLBW infants on the incidence and mortality of fungal infection. Methods : VLBW infants with endotracheal intubation and central vascular access admitted to the Neonatal Intensive Care...
Case Report
Pyridoxine responsive sideroblastic anemia in a boy with mitral valve prolapse
June Seung Sung, Ki Hwan Kim, Dong Gyun Han, Mi Jeong Kim, Young Kook Cho, Hae Yul Chung, Hee Jo Baek, Jae Sook Ma, Hoon Kook, Tai Ju Hwang
Clin Exp Pediatr. 2006;49(11):1223-1226.   Published online November 15, 2006
Sideroblastic anemia is a rare, heterogeneous group of disorders characterized by hyperferremia, microcytic hypochromic anemia, and bone marrow erythroid hyperplasia with the presence of numerous ringed sideroblasts. We describe herewith the case of a rare coincidence of sideroblastic anemia and mitral valve prolapse with resultant regurgitation in a 2-year-old boy. In addition to the inherent propensity for the development of...
Original Article
Clinical characteristics and outcomes of status epilepticus as an initial seizure in children
Mi Jeong Kim, Young Ok Kim, Sun Hee Kim, Woo Yeon Choi, Hyung Suk Byun, Chan Jong Kim, Young Jong Woo
Clin Exp Pediatr. 2006;49(6):659-664.   Published online June 15, 2006
Purpose : To evaluate the morbidity and mortality of children with status epilepticus(SE) as an initial seizure and to compare these according to age groups. Methods : The 78 cases(38 cases <2 years and 38 cases ≥2 years) with SE as an initial seizure admitted to the Chonnam national university hospital from Jan. 2000 to Jan. 2004 were reviewed. Developmental profiles,...
Case Report
Isolated Intracranial Granulocytic Sarcoma as a Relapse Following Unrelated Bone Marrow Transplantation for Myelodysplastic Syndrome in a 1 Year-Old Infant
Kyung Ran Son, Hoon Kook, So Youn Kim, Hee Jo Back, Seok Joo Kim, Ha Young Noh, Mi Jeong Kim, Ic Sun Choi, Shin Jeong, Jong Hee Nam, Tai Ju Hwang
Clin Exp Pediatr. 2004;47(9):1008-1012.   Published online September 15, 2004
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...
An Autopsy Case of Tracheal Agenesis Type 2
Hyun Joo Lee, Eun Ae Park, Seung Joo Lee, Mi Jeong Kim, Soon Hee Seong
Clin Exp Pediatr. 1996;39(12):1759-1762.   Published online December 15, 1996
Tracheal agenesis is the rare and uniformly lethal anomaly that presents with severe respiratory distress and aphonia after birth. In this anomaly, the trachea is usually absent and air is reaching the bronchi through a communication with the esophagus. The diagnosis should be suspected in a nowborn infant with respiratory distress whose intubation is difficult. We report an autopy case of tracheal...
A Case of Symmetrical Peripheral Gangrene in Disseminated Intravascular Coagulation
Mi Jeong Kim, Seung Hee Park, Sun Wha Kim, Don Hee Ahn
Clin Exp Pediatr. 1994;37(11):1620-1623.   Published online November 15, 1994
The symmetrical peripheral gangrene syndrome consists of sudden onset of symmetrical gangrene of the fingers, toes and more raely, the nose, upper lip, ear lobes, or genitalia. There is no evidence of occulusion of large vessels or vasculitis. We experienced a case of symmetrical peripheral gangrene developed in fingers and toes with disseminated intravascular coagulation in 20 day-old permature infant with...
Original Article
A Clinical and Pathological Study of Recurrent Hematuria in Childhood
Mi Jeong Kim, Jae Wook Ko, Young Jin Hong, Myung Ik Lee, Sun Wha Kim, Don Hee Ahn
Clin Exp Pediatr. 1994;37(8):1104-1110.   Published online August 15, 1994
The clinico-pathological observation was done on 28 children with recurrent hematuria, who had been admitted to the Pediatric ward of NMC from January 1981 to July 1991. The results were as follows; 1) Most of the children with recurrent hematuria were over 6 years of age (24 cases, 85.7%) and the sex ratio was about 2.5:1. 2) IgA nephropathy (17 cases, 60.7%) was...