• Clinical and Experimental Pediatrics
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• 제51권4호
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• pp.435-438
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• 2008

Cerebro-Oculo-Facio-Skeletal (COFS) syndrome은 뇌, 안면, 안구 및 사지의 기형을 특징으로 하는 상염색체 열성 유전 질환이다. COFS 증후군은 DNA-repair gene의 돌연변이로 인한 뇌와 척수의 퇴행성 질환으로 여겨지며, 대뇌, 안구, 안면 및 사지의 복합 기형을 보인다. 국내에서는 신생아기에 진단되어 생후 1개월에 사망한 1례만이 보고 되어 있다. 저자들은 뇌, 안면, 안구, 그리고 사지의 복합 기형을 보여 COFS 증후군으로 진단된 환아를 경험하였으며, 이를 문헌 고찰과 함께 보고한다.

• Advances in pediatric surgery
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• 제20권1호
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• pp.1-6
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• 2014

Minimal invasive surgery (MIS) has rapidly gained acceptance for the management of a wide variety of pediatric diseases. A questionnaire was sent to all members of the Korean Association of Pediatric Surgeons. Thirty one members (25.4%) took part in the survey that included data for the year 2012: demographic details, opinion regarding minimal invasive surgery and robotic surgery, spectrum of minimally invasive operations, and quantity of procedures. 48.4% of the respondents had more than 10 years experience, 35.5% less than 10 years experience, and 16.1 % had no experience. The respondents of the recommend MIS and perform MIS for surgical procedures are as follow; inguinal hernia (61.3%), simple appendicitis (87.1%), complicated appendicitis (80.6%), reduction of intussusceptions (83.9%), pyloromyotomy (90.3%), fundoplication (96.8%), biopsy and corrective surgery of Hirschsprung's disease (93.5%/90.3%), imperforate anus (77.4%), congenital diaphragmatic hernia (80.6%), and esophageal atresia (74.2%). The MIS procedures with more than 70% were lung resection (100%), cholecystectomy (100%), appendectomy (96.2%), ovarian torsion (86.7%), fundoplication (86.8%), hiatal hernia repair (82.6%), and splenectomy (71.4%). The MIS procedures with less than 30% were congenial diaphragmatic hernia reapir (29.6%), esophageal atresia (26.2%), correction of malroatation (24.4%), inguinal hernia repair (11.4%), anorectal malformation (6.8%), Kasai operation (3.6%).

• Journal of mucopolysaccharidosis and rare diseases
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• 제2권1호
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• pp.23-26
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• 2016

Mucopolysaccharidosis (MPS) I is a rare, progressive and multisystemic disease with insidious initial signs and symptoms, and making an early diagnosis can be a challenge for the first-line general medical practitioner. We report a 6-month-old girl who was brought to our well baby clinic for regular immunization with the manifestations of lumbar gibbus, hirsutism, large Mongolian spots over back and buttock, and mild bilateral legs spasticity noticed by the general pediatrician, and then newly diagnosed with MPS I after referral to the geneticist in time. Her surgical history included inguinal hernia repair at 1 month old, $CO_2$ laser supraglottoplasty for laryngomalacia and tracheostomy due to chronic respiratory failure with ventilator dependence at 2 months old. Understanding and identification of the early signs and symptoms of this disease have the potential to early diagnosis and timely appropriate treatment, which could contribute to a better clinical outcome.

• Advances in pediatric surgery
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• 제19권1호
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• pp.32-38
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• 2013

The purpose of this study is to analyze the early experience of the laparoscopic adhesiolysis for the intestinal obstruction due to postoperative adhesion. Seven patients were included in this study. The median age of those patients was 13, and there were 3 males and 4 females. Previous diagnosis and surgical procedure were various in seven cases, including small bowel resection with tapering enteroplasty, Boix-Ochoa fundoplication, Ladd's procedure with appendectomy, mesenteric tumor resection with small bowel anastomosis, ileocecal resection and anastomosis, primary gastric repair, and both high ligation. A successful laparoscopic adhesiolysis was performed in one who had high ligation for inguinal hernia and had a single band adhesion. Six out of 7 (86%) cases needed to convert open surgery due to multiple and dense type of adhesion. In conclusion, laparoscopic approach with postoperative small bowel adhesion seems safe. However, it might be prudently considered because of high rates of conversion in children.

• Advances in pediatric surgery
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• 제2권1호
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• pp.1-7
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• 1996

Clinical experiences of 833 hydrocele children presented at Hanyang University Hospital, of whom 456 children were operated by one pediatric surgeon from September 1979 to December 1993, were analyzed. Eight hundred and twenty three children were boys(right 476, left 279, bilateral 49, and unknown 19), and 10 were girls(8 right and 2 left). Operation was performed on 446 boys and all girls. Of boys diagnosed before the age of 6 months, 15.6% was operated and 68.7% of those after 6 months of age was operated. Among the boys operated after 2 years old, 16.5% had had hydrocele before 6 months of age, 20.4% before 1 year old and 34.6% before 2 years old. On the other hand, 28.8% of boys diagnosed after 2 years of age did not undergo hydrocelectomy. Sixteen children with hydroceles had contralateral hernias at the same time. After repair of unilateral hydroceles, contralateral hydroceles developed in 7 and hernias in 3 children. After disappearance of unilateral hydroceles, it reappeared at the same site in 4 and contralateral hydroceles or hernias developed in 2 children each. Hydroceles converted to hernias in 6 children before treatment. Hydroceles developed after ventriculo-peritoneal shunt in 5 children. The pathophysiology of hydrocele and inguinal hernia seems to be the same because of the similar distribution of onset age between them but hydrocele has various clinical courses. The results that 34.6% of boys operated after 2 years old had had hydrocele before 2 years of age and 28.8% of boys diagnosed after 2 years old did not undergo hydrocelectomy could not imply the proper age when hydrocelectomy could be performed. But operative repair of hydroceles after the age of 6 months seems to be recommendagle.