• Korean Journal of Head & Neck Oncology
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• v.27 no.1
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• pp.84-87
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• 2011

Branchio-otic syndrome(BOS) is a relatively uncommon genetic malformation associated with dysmorphogenesis of the first and second branchial arches and is characterized by branchial fistulae, congenital preauricular fistulae, and anomalies of the pinnae, external, middle, and inner ears, accompanied by hearing loss. Recently, we experienced a case of BOS in a 10 years old female patient and report this case with a review of literature. 10-year-old girl presented with hearing impairment, bilateral preauricular fistula and cervical fistula. The pure tone audiometry revealed that she had 60dB sensorineural hearing loss on right side and 90dB mixed hearing loss on left. Bilateral branchial fistula was found on the neck CT scan and bilateral ossicular and cochlear abnormality combined with enlarged internal auditory canal was noted on the temporal bone CT scan. To investigate the association with EYA1 gene, we performed DNA sequncing with peripheral white blood cell and found the point mutations on Exon 7, 12 and 16 of EYA1 gene. The preauricular fistula and branchial fistula was excised surgically and hearing aid was applied on her left side. There was no sign of fistula recurrence for seven years after the surgery.

• Advances in pediatric surgery
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• v.8 no.2
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• pp.107-112
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• 2002

Branchial anomaly is a frequently occurring congenital abnormality in childhood. It is important for the pediatric surgeon alike to be familiar with the embryology and differentiation of head and neck structure to accurately diagnose and treat these lesions. Eighty-five patients with branchial anomaly treated at Hanyang University Hospital between 1980 and 2001 were reviewed to determine relative frequency, clinical classification and appropriate treatment. The male to female ratio of branchial anomaly was 1.2:1. The most commonly presenting age was before 1 year (32%) and the age group between 1 and 3 year (22%) followed it. According to the classification of branchial anomalies, 73 of 85 cases were second branchial anomaly, 9 had the first type and 3 did fourth type. One patient showed combined anomalies of the first and the second type. Infection sign were seen in 70% of patients at the time of the first visit to our hospital and also patients' symptoms were frequently related with the infection. Forty-one cases (48%) were fistula, 21 (25%) were cysts, 21 (25%) were sinuses, and two were only cartilage remnants. The most common type of the branchial anomalies is the second branchial fistula and the most common symptoms of the anomalies are related with infection. Initial proper diagnosis and anatomical classification of the anomalies are very important in managing the lesions. The efforts to find the exact anatomical location of the fistula or sinus tract are necessary because total excision of the lesions including those tracts is the only way to prevent recurrence.

• Archives of Craniofacial Surgery
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• v.13 no.1
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• pp.54-56
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• 2012

Purpose: Dandy-Walker syndrome is a rare congenital brain malformation that occurs one in every 25,000-35,000 live births, mostly in females. It is characterized by cystic enlargement of the fourth ventricle, agenesis or hypogenesis of the cerebellar vermis and enlargement of the posterior fossa. In this report, the authors aimed to address a rare case of a 14-months-old female Dandy-Walker syndrome patient that is presented with submucous cleft palate. Methods: A 14-months-old female patient admitted to our outpatient clinic, via the department of pediatrics, with the complaints of nasal regurgitation, choking and breathing difficulties. She was diagnosed as Dandy-Walker syndrome by magnetic resonance imaging evaluation, at another hospital and underwent a shunt operation for the hydrocephalus continuing treatments. On physical examination, she had structural abnormality of bifid uvula, and palpable notch in the posterior surface of the hard palate. Her submucous cleft palate was corrected, which used a double opposing Z-plasty under general anesthesia. Results: In a follow-up period of 2 months, no complications, such as wound dehiscence, necrosis and infection occurred, which shows satisfactory results. She consulted with pediatric neurologists and physical therapists for further evaluation and management of the abnormalities in the central nervous system. Conclusion: Dandy-Walker syndrome patient with a cleft palate is a very rare case to find, which only a few cases are reported around the world. Authors would like to share this case of Dandy-Walker syndrome patient, with submucous cleft palate, who underwent a double opposing Z-plasty that shows satisfactory results.

• Journal of Chest Surgery
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• v.29 no.11
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• pp.1202-1206
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• 1996

Ebstein's anomaly is an unusual and a rare congenital cardiac malformation but characteristic abnormality of the development of the tricuspid valve, right atrium and ventricle. The characteristic findings are a displaced tricuspid valve with a septal leaflet spiralling into the right ventricle. The surgical correction is variable and are left unsolved problem in surgical treatment of anomaly. Between January 1988 ＆ December 1995, we experienced 11 cases of Ebstein's anomaly and associated cardiac anomalies are ASD, PFO, ASD with VSD. The typically displaced tricuspid valve leaflet was found in all cases. In the NYHA functional classification, three were in class II, seven were in class III, and one was in class IV. Nine patients were operated by tricuspid annuloplasty ＆ plication with Danielson's method and two patients were done by tricuspid valve replacement with plication, and in all cases associated anomaly was corrected. Postoperatively, five patients suffered from complication - low cardiac output syndrome, arrhythmia and wound infection. There was no operative mortality and the postoperative courses were relatively good conditions with more improvement of symptoms.

• Childhood Kidney Diseases
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• v.23 no.2
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• pp.100-104
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• 2019

Purpose: Ureteral duplication is a relatively common congenital urinary tract abnormality that can be associated with various clinical problems such as vesicoureteral reflux (VUR), hydronephrosis, and ectopic ureters. The purpose of this study was to analyze the clinical characteristics of pediatric patients with recently diagnosed ureteral duplication and to identify any differences from those described in previous reports. Methods: We retrospectively reviewed the clinical characteristics and course of pediatric patients who were diagnosed with ureteral duplication between January 2008 and June 2017. Results: A total of 32 pediatric patients were diagnosed with ureteral duplication during the study period. The male to female ratio was 1:2.2. Twenty-seven patients (84.4%) were first diagnosed with ureteral duplication at less than 3 months of age, and 26 (81.3%) were first diagnosed by prenatal ultrasonography. Four of the 32 patients were diagnosed with bilateral ureteral duplication, for a total of 36 occurrences of ureteral duplication. In 17 occurrences of complete ureteral duplication (47.2%), other urinary tract anomalies were also found; namely, ureterocele (7), VUR (11), and ectopic ureter (5). However, none of the patients with incomplete ureteral duplication had ureterocele or VUR. Conclusions: With the advent of routine prenatal ultrasound, ureteral duplication is being diagnosed earlier than was previously possible, enabling timely treatment of the various accompanying urinary tract anomalies. Multicenter studies are needed to establish guidelines for standardized evaluation and treatment of ureteral duplication.

• Journal of the Korean Society of Radiology
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• v.83 no.3
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• pp.680-686
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• 2022

Intraluminal duodenal diverticulum (IDD) is a rare congenital abnormality, consisting of a saclike mucosal lesion in the duodenum. Cases of IDD can present with gastrointestinal bleeding, duodenal obstruction, or pancreatitis. Here, we report a rare case of a 25-year-old female presenting with IDD complicated by duodeno-duodenal intussusception and recurrent pancreatitis. The diagnosis was based on findings from radiologic examinations (CT and MRI), upper gastrointestinal series (barium swallow), and gastroduodenofiberscopy. Laparoscopic excision of the presumed duodenal duplication was performed. The subsequent histopathologic evaluation of the excised sac revealed normal mucosa on both sides, but the absence of a proper muscle layer confirmed the diagnosis of IDD. Radiologic detection of a saccular structure in the second portion of the duodenum can indicate IDD with duodeno-duodenal intussusception as the lead point.

• Korean Journal of Radiology
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• v.1 no.3
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• pp.135-141
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• 2000

Objective: To compare the clinical utility of the different imaging techniques used for the evaluation of tracheobronchial diseases. Materials and Methods: Forty-one patients with tracheobronchial diseases [tuberculosis (n = 18), bronchogenic carcinoma (n = 10), congenital abnormality (n = 3), post-operative stenosis (n = 2), and others (n = 8)] underwent chest radiography and spiral CT. Two sets of scan data were obtained: one from routine thick-section axial images and the other from thin-section axial images. Multiplanar reconstruction (MPR) and shaded surface display (SSD) images were obtained from thin-section data. Applying a 5-point scale, two observers compared chest radiography, routine CT, thin-section spiral CT, MPR and SSD imaging with regard to the detection, localization, extent, and characterization of a lesion, information on its relationship with adjacent structures, and overall information. Results: SSD images were the most informative with regard to the detection (3.95±0.31), localization (3.95±0.22) and extent of a lesion (3.85±0.42), and overall information (3.83±0.44), while thin-section spiral CT scans provided most information regarding its relationship with adjacent structures (3.56±0.50) and characterization of the lesion (3.51±0.61). Conclusion: SSD images and thin-section spiral CT scans can provide valuable information for the evaluation of tracheobronchial disease.

• Childhood Kidney Diseases
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• v.17 no.2
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• pp.101-109
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• 2013

Purpose: Pediatric urolithiasis is uncommon in children but is a cause of significant morbidity and damage to the kidney. Although much information on adult urolithiasis is available in the literature, large studies on the pediatric population are still scarce. In this report, we review our experience with pediatric urolithiasis over 22 years at a tertiary referral center. Method: We retrospectively reviewed the records of children with newly diagnosed urolithiasis between January 1991 and May 2013. We assessed the age, sex, family history, initial symptoms, location of stones, underlying cause, stone analysis, treatment, and recurrence among the patients. Results: In total, 137 patients (96 male, 41 female) were assessed. The age range was 0-17 years (mean age, 6.0 years). Forty-three (31%) children were aged <1 year, and 37% (16/43) had a history of intensive care unit (ICU) admission. Thirteen patients (9.5%) had a family history of stones. The most common symptoms at presentation among the patients were gross hematuria (56/137, 41%) and flank or abdominal pain (46/137, 34%). The stones were located in the kidney (85/137, 62%), ureter (29/137, 21%), bladder (2/137, 1.4%), and multiple locations (20/137, 15 %). Congenital abnormalities of the genitourinary (G-U) tract, with or without metabolic abnormality, or urinary tract infection (UTI) was detected in 26 children (19%). Ninety-one patients (66%) underwent metabolic examination, and 38% of these patients exhibited an abnormality. UTI, with or without abnormalities of the G-U tract, or metabolic abnormality was detected in 26 children (19%). Of the 35 stones analyzed, the majority were calcium stones (20/35, 57%), followed by infected stones (5/35, 14%), uric acid stones (4/35, 11%), carbonate apatite stones (3/35, 7%), cystine stones (2/35, 6%), and phosphate stones (1/35, 3%). Five patients (4%) required open procedures, with or without non-open procedures, whereas 77 patients (56%) were managed conservatively; the remaining 55 patients (40%) received some other form of intervention. Eighteen patients (13%) had stone recurrence during the follow-up period. Conclusions: Pediatric urolithiasis is commonly associated with abnormalities of the G-U tract and/or metabolic disorders and/or UTI. Half of the patients will pass their stones spontaneously, and all the techniques of minimally invasive surgery are applicable in the treatment of children with stones. As the recurrence rates are high among this population, long-term follow-up is recommended and the complete clearance of stones is important.

• Clinical and Experimental Pediatrics
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• v.52 no.12
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• pp.1364-1369
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• 2009

Purpose : To analyze abnormal ventricular activation in childhood congenital heart disease induced by postoperative changes in ventricular volume and pressure and ventricular scar formation using signal-averaged electrocardiography (SAECG). Methods : Fifty-two patients who had undergone open heart surgery (OHS) were enrolled. Patients were divided into the following 3 groups: right ventricular volume overload (atrial septal defect, group1), left ventricular volume overload (ventricular septal defect, group2), and right ventricular pressure overload (tetralogy of Fallot, group 3). The patients were monitored by standard 12-lead ECG and SAECG before and 2 months after the operation. QRS duration, QT and QTc intervals, filtered QRS (f-QRS), high frequency low amplitude potential (HFLA), and root mean square (RMS) voltage in the terminal 40 ms of SAECG were determined. Results : In the preoperative period, group1 showed significant increase in QRS (P=0.011) compared to those of the other 2 groups. In the postoperative period, group3 showed significant increase in the QTc interval (P=0.004) compared to those in the other 2 groups. SAECG parameters showed no significant differences among the groups in the pre- or postoperative period. Of the 52 patients, 12 (23%) in the preoperative period and 21 (40%) in the postoperative period had at least 1 SAECG abnormality. The prevalence of SAECG abnormalities was significantly higher in the postoperative group 2 and group 3 (preoperative: 20% versus postoperative: 28%, P<0.001, preoperative: 14% versus postoperative: 64%, P<0.001, respectively). Conclusion : Abnormal SAECG patterns may be attributed to postoperative scars, OHS itself, and/or ventricular overload.

• Clinical and Experimental Pediatrics
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• v.52 no.6
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• pp.655-660
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• 2009

Purpose : To compare birth weight between infants with a single umbilical artery (SUA) and normal infants, investigate the associated anomalies of infants with SUA and isolated SUA (no abnormality of external appearance on birth, except SUA), and determine the prognosis of infants with isolated SUA. Methods : Live-born infants with SUA (n=59) detected by physical examination from among 15,193 live births in seven university hospitals in Korea between January 1, 2004, to August 1, 2007, were reviewed retrospectively, with 236 normal infants serving as the control group. Results : A statistical difference was observed between the groups in birth weight and in vitro fertilization. The incidence of infants with SUA was 0.37%. Congenital malformations were observed in 21 infants with cardiovascular (n=15, 25.4%), gastrointestinal (n=2, 3.4%), genitourinary (n=9, 15.3%), neuromusculoskeletal (n=6, 10.2%), central nervous system (n=1, 1.7%), chromosomal (n=1, 1.7%), and other (n=3, 5.1%) abnormalities. There were 49 (83.1%) infants with isolated SUA in this study population; among them, the associated congenital malformations were cardiovascular (n=6, 12.2%) and genitourinary (n=6, 12.2%) abnormalities. Two infants with cyanotic heart disease were operated and four infants with acyanotic heart disease showed improvements without any treatment. Six infants with genitourinary abnormalities on renal ultrasound had mild hydronephrosis without further consequences. Conclusion : The incidence of structural abnormalities in the cardiovascular and genitourinary systems is high and the genitourinary anomalies associated with isolated SUA have relatively good prognosis.