• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.8 no.2
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• pp.122-129
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• 2005

Purpose: Eosinophilic colitis is a disease characterized by gastrointestinal symptoms, peripheral eosinophilia, eosinophilic infiltration of the colonic wall. The etiology and pathogenesis of this disease is not clear and it is considered to be idiopathic. This study aimed to ascertain the clinical features, treatment and prognosis of eosinophilic colitis in early infancy. Methods: We reviewed 6 infants retrospectively, presented with bloody stool in early infancy, who were diagnosed with eosinophilic colitis in Pusan National University Hospital between August 2002 and February 2004. Results: Five males and one female were included. The mean age when bloody stool was identified was $79.2{\pm}56.1$ days (10~145 days). All but one infant with atopic dermatitis did not have other allergic diseases. Nobody had a family history of allergic disease. No specific dietary history in infants and their mothers related to food allergy was identified. Peripheral eosinophilia (total WBC count $11,763{\pm}3,498/mm^3$, eosinophils $17.0{\pm}4.3%$, absolute eosinophil count $2,044{\pm}996/mm^3$) was observed in all infants. Colonoscopy in six infants revealed diffuse erythema, congestion and granulation pattern of mucosa in the rectosigmoid colon. Histopathologic findings of colononic biopsies showed chronic inflammation with severe eosinophilic infiltration in the mucosa. Two infants were treated with hydrolyzed casein-based formula and four infants with prednisolone. Gastrointestinal symptoms and peripheral eosinophilia resolved completely with prednisolone and partially with a hydrolyzed casein-based formula. Relapse was not observed during the follow-up period. Conclusion: Our study demonstrated that there is no evidence of a definite relationship between eosinophilic colitis and food-allergic disorders. Clinical course and prognosis of infantile form of eosinophilic colitis is very favorable and treatment with prednisone was effective.

• Journal of Chest Surgery
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• v.29 no.3
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• pp.285-291
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• 1996

We have reviewed 157 cases of coarctation of aorta in the age of infancy and children from March 1973 to december 1994. Patients were 9) males and 64 females, and their age ranged from one month to fifteen years (23.8 $\pm$ 41.6months) with 113 infant cases. In the infantile age, congestive heart failure was the most common chief complaint (781113), and above that age, asymptom was most common (15/44). Isolated coarctation was present in 31 patients, and 9 patients had additional atrial septal defect (group I), 73 patients had associated ventricular septal defect (group II), and 44 patients had associated complex intracardiac lesions(group III). Aortic arch hypoplasia was present in 17 patients. , The operations perf'ormed were subclavian flap angioplasty in 71 patients, resection and anastomosis in 32 patients, patch aortoplasty in 26 patients, resd extended end-!o-end anastomosis in 27 patients, and direct angioplasty with resection of web in 1 patient. The early mortality was 17.2% (27/157) and re-coarctation rate was 18.0% (281157). The most common complication was respiratory problem in infants and postoperative hypertension in children.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.1
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• pp.30-34
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• 2018

Niemann Pick type C disease (NPC) is an inherited progressive neurodegenerative disorder, due to defects of intracellular lipid trafficking and storage. Hepatosplenomegaly may prevail, while progressive neurodegenerative symptoms such as cerebellar involvement, dystonia, vertical supranuclear ophthalmoplegia, cataplexy, and eventually seizures starting at juvenile or late infantile period may accompany after normal early development. Here we describe a 3-year-old Korean boy with NPC who presented with splenomegaly at age 3. Liver biopsy showed characteristic foamy cell stained by periodic acid-schiff, and molecular analysis for NPC1 identified the compound heterozygous mutations, novel mutation of c.1631G>A (p.Trp544Ter) and c.2662C>T (p. Pro888Ser) as a known mutation. Filipin was strongly stained with unesterified cellular cholesterol in the patient's skin fibroblasts. The patient has received migulstat since age 3 years and his long-term outcome is needed to be observed.

• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.408-413
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• 2010

Purpose : We aimed to prove the relative limitation of $^{99m}Tc-DMSA$ scintigraphy (DMSA) compared to computed tomography (CT) in diagnosing acute pyelonephritis (APN) in children. Methods : Since September 2006, after a 64-channel CT was imported, 10 DMSA false-negative patients have been identified: these patients underwent a CT scan for acute abdomen or acute febrile symptoms and were diagnosed as having APN; however, their DMSA scans were clear. We focused on these 10 DMSA false-negative patients and analyzed their clinical findings and CT results. We used Philips Brilliance Power 64-channel CT scanner for the CT scan and Siemens Orbitor Nuclear Camera 60 Hz for the DMSA scan. Results : The 10 DMSA false-negative patients were mostly males (80%) and infants (80%). They had fever for a mean of 1.1-day duration before admission and showed increase in acute reactants: leukocyte, erythrocyte sedimentation rate, and C-reactive protein. The CT findings of renal lesions were focal in 6 (60%) cases and diffuse in 4 (40%) cases, and most of the lesions were unilateral in 80% of patients. CT proved that 22 renal lesions were neglected by DMSA. Differential renal function test by DMSA was also of no use in the evaluation of renal lesions. Conclusion : In this study, DMSA scan showed limitation in finding renal cortical lesions of CT-proven APN patients. DMSA false-negative results seem to occur at early-phase disease of infantile age, but more prospective studies are needed to determine the reasons and their prevalence.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.189-196
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• 2018

Purpose: Floppy infants or congenital hypotonia indicates decreased muscle tone in infants secondary to abnormalities of the central or the peripheral nervous system, or both. Previous literature classified its causes as those attributable to a central vs. peripheral origin; however, recent studies have introduced a newer classification describing a combined origin. We invenstigated floppy infants by applying the new etiological classification and reviewed the most common etiologies based on the age of presentation. We additionally reviewed the clinical characteristics, diagnoses, and the developmental outcomes in these infants. Methods: We retrospectively reviewed the electronic medical charts and recruited 116 infants diagnosed with floppy infant syndrome between January 2005 and December 2016 at Severance Children's Hospital. Among these infants, 66 with a confirmed diagnosis were reviewed for the etiological classification. Information regarding developmental outcomes was obtained via phone interviews with the infants' families. Results: Based on the new etiological classification, among 69 infants with a confirmed diagnosis, in 40 (34.5%) this syndrome was of central origin, in 19 (16.4%) of peripheral origin, and in 10 (8.6%) of combined origin. Prader-Willi syndrome, myotonic dystrophy, and spinal muscular atrophy were the most common disorders observed and combined hypotonia showed the poorest developmental outcome. Conclusion: The study states the importance of proper evaluation of etiological diagnosis and optimal intervention for developmental prognosis. The introduction of a new etiological group of combined hypotonia especially emphasizes regular monitoring and timely rehabilitative intervention in patients for the better quality of life in them as well as their caregivers.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.1
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• pp.31-37
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• 2017

Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle that causes hyperammonemia. Two forms of CPS1D are recognized: a lethal neonatal type and a less severe, delayed-onset type. Neonatal CPS1D cases often present their symptoms within the first days of life. Delayed-onset cases are predominantly adolescents or adults, and infantile delayed-onset cases are rare. Severe hyperammonemia in the neonatal period leads to serious brain damage, coma, and death if not treated promptly. Therefore, early diagnosis and acute treatment are crucial. Despite the improvement of treatments, including continuous hemodialysis, ammonia-lowering agents, and a low-protein diet, the overall outcome of severe forms of hyperammonemia often remains disappointing. As the liver is the only organ in which ammonia is converted into urea, liver transplantation has been considered as an elegant and radical alternative therapy to classical dietary and medical therapies. However, liver transplantation has many disadvantages, such as a considerable risk for technical complications and perioperative metabolic derangement, especially in neonates. Additionally, there is a lack of suitable donor organs in most countries. According to recent studies, liver cell transplantation is a therapeutic option and serves as a bridge to liver transplantation. Here, we report a Korean CPS1D patient with novel mutations in CPS1 who was treated by liver cell transplantation after being diagnosed in the neonatal period and showed a good neurodevelopmental outcome at the last follow-up at six months of age.

• Pediatric Infection and Vaccine
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• v.17 no.1
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• pp.23-29
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• 2010

Purpose : Urinary tract infection (UTI) in children is the most common disease during the infantile period, therefore early diagnosis and treatment are important. Pyuria is a useful clinical parameter for the initial diagnosis of a UTI. In this study we aimed to compare the clinical, laboratory, and imaging findings in relation to the duration of pyuria in infants with UTIs. Methods : Three hundred seventy-four infants <12 months of age who were admitted between January 1995 and December 2005 for the first episode of a febrile UTI were retrospectively reviewed. Patients were divided into two groups according to the duration of pyuria as follows: group 1, pyuria resolved <3 days after initial treatment; and group 2, pyuria lasted at least 3 days after initial treatment. Results : There were no significant differences between the two groups in relation to gender, age, total duration of fever, and organisms in the urine. Group 2 had a significantly higher peripheral blood leukocyte count ($14,360.86{\pm}5,526.16cells/mm^3$ vs. $11,822.55{\pm}5,687.26cells/mm^3$, P <0.001), erythrocyte sedimentation rate ($32.81{\pm}19.34mm/hr$ vs. $23.74{\pm}20.43mm/hr$, P <0.001), and C-reactive protein ($6.84{\pm}5.68mg/dL$ vs. $3.78{\pm}3.99mg/dL$, P <0.001) than group 1. There was a significantly higher incidence of hydronephrosis and a higher grade of vesicoureteral reflux (VUR) in group 2 compared to group 1. Conclusion : In infants with UTI, pyuria of longer duration is related to severe UTI and higher grade VUR, therefore aggressive radiologic studies may be necessary.