• Clinical and Experimental Pediatrics
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• 제56권5호
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• pp.224-226
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• 2013

Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is characterized by a severe idiosyncratic reaction including rash and fever, often with associated hepatitis, arthralgias, lymph node enlargement, or hematologic abnormalities. The mortality rate is approximately 10%, primarily owing to liver failure with massive or multiple disseminated focal necrosis. Here, we report a case of a 14-year-old girl treated with vancomycin because of a wound infection by methicillin-resistant Staphylococcus aureus, who presented with non-specific symptoms, which progressed to acute liver failure, displaying the hallmarks of DRESS syndrome. With the presence of aggravated hepatic encephalopathy and azotemia, the patient was refractory to medical treatments, she received a living-donor liver transplantation, and a cure was achieved without any sign of recurrence. Vancomycin can be a cause of DRESS syndrome. A high index of suspicion and rapid diagnosis are necessary not to miss this potentially lethal disease.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제17권3호
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• pp.170-177
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• 2014

Purpose: Choledochal cyst is a cystic dilatation of common bile duct. Although the etiology is presently uncertain, anomalous pancreaticobiliary ductal union (APBDU) is thought to be a major etiology of choledochal cyst. In this study, we analyzed the clinical and anatomical characteristics and pathologies of patients diagnosed with choledochal cyst in a single institute for 25 years. Methods: A total of 113 patients, diagnosed with choledochal cyst and who received an operation in Severance Children's Hospital from January 1988 to May 2013, were included. Medical records were reviewed, including clinical and demographic data, surgical procedures. Abdominal ultrasonography, magnetic resonance cholangiopancreatography, and intraoperative cholangiography were used as diagnostic tools for evaluation and classification of choledochal cyst and the presence of anomalous pancreaticobiliary ductal union. Todani's classification, and relationship between APBDU and surgical pathology. Results: Among 113 patients, 77 patients (68.1%) presented symptoms such as hepatitis, pancreatitis and/or cholecystitis. Eighty three patients (73.5%) had APBDU, and 94 patients (83.2%) showed inflammatory pathologic changes. APBDU, pathologic inflammation, and serological abnormalities such as hepatitis or pancreatitis showed a statistically significant correlation to one another. Conclusion: APBDU is thought to be one of the etiologic factors of choledochal cyst. It is related to the inflammatory changes in bile duct that can lead to the cystic dilatation.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제19권2호
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• pp.147-151
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• 2016

Neonatal hemochromatosis (NH) is a severe neonatal liver injury that is confirmed by extra-hepatic iron accumulation. Although a recent study described treating NH with exchange transfusions and intravenous immunoglobulin, liver transplantation should be considered for patients with severe liver failure that does not respond to other medical treatment. Herein, we report the case of a two-month-old female infant who presented with persistent ascites and hyperbilirubinemia. Her laboratory findings demonstrated severe coagulopathy, high indirect and direct bilirubin levels, and high ferritin levels. Abdominal magnetic resonance imaging presented low signal intensity in the liver on T2-weighted images, suggesting iron deposition. The infant was diagnosed with NH as a result of the clinical findings and after congenital infection and metabolic diseases were excluded. The infant was successfully treated with a living-donor liver transplantation. Living related liver transplantation should be considered as a treatment option for NH in infants.

• 대한유전성대사질환학회지
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• 제18권1호
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• pp.13-17
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• 2018

메틸말론산혈증은 선천성 유기산대사질환 중 하나로 증상의 발현시기 및 임상 증상이 매우 다양하며, 장기간의 합병증으로 세뇨관 간질 신염과 만성 신기능 저하, 췌장염, 기저핵 손상, 지능저하가 발생 할 수 있다. 연구자들은 이러한 메틸말론산혈증의 세뇨관 간질신염을 동반한 활동저하 환자에서 파미드로네이트 치료를 통해 고칼슘혈증과 골다공증의 호전을 경험하였기에 보고하는 바이다.

• Journal of Genetic Medicine
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• 제15권1호
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• pp.20-23
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• 2018

Point mutations in the human cardiac homeobox gene NKX2.5 are associated with familial atrial septal defect (ASD), atrioventricular (AV) conduction disturbance, as well as sudden cardiac death. To date, more than 60 NKX2.5 mutations have been documented, but there are no reports in Korea. We are reporting the first Korean family with ASD and AV block associated with a novel mutation in the NKX2.5 coding region. A 9-year-old boy presented with a slow and irregular pulse, and was diagnosed with secundum ASD and first degree AV block. The boy's father, who had a history of ASD correction surgery, presented with second degree AV block and atrial fibrillation. The boy's brother was also found to have secundum ASD and first degree AV block. There were two sudden deaths in the family. Genetic testing revealed a novel mutation of NKX2.5 in all affected members of the family.

• Clinical and Experimental Pediatrics
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• 제55권5호
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• pp.177-180
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• 2012

OK-432 (picibanil) is an inactivated preparation of $Streptococcus$ pyogenes that causes pleurodesis by inducing a strong inflammatory response. Intrapleural instillation of OK-432 has recently been used to successfully treat neonatal and fetal chylothorax. Here we report a trial of intrapleural instillation of OK-432 in two preterm infants who were born with hydrops fetalis and massive bilateral pleural effusion. Both cases showed persistent pleural effusion, refractory to conservative treatment, up to postnatal days 26 and 46, respectively. An average of 80 to 140 mL of pleural fluid was drained daily. In case 1, the infant was treated with OK-432 during the fetal period at gestation 28 weeks and 4 days of gestation, but showed recurrence of pleural effusion and progressed into hydrops. Within two to three days after OK-432 injection, the amount of pleural fluid drainage was dramatically decreased and there was no reaccumulation. We did not observe any side effects related to OK-432 injection. We suggest that OK-432 should be considered as a therapeutic option in infants who have persistent pleural effusion for more than four weeks, with the expectation of the early removal of the chest tube and a good outcome.

• Clinical and Experimental Pediatrics
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• 제55권12호
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• pp.487-490
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• 2012

We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her brain magnetic resonance imaging scans and metabolic evaluation results were normal. Routine karyotyping indicated the presence of a supernumerary marker chromosome of unknown origin (47, XX +mar). An array-comparative genomic hybridization (CGH) analysis revealed amplification from 15q11.1 to 15q13.1. Subsequent fluorescence in situ hybridization analysis confirmed a idic(15) chromosome. Array-CGH analysis has the advantage in determining the unknown origin of a supernumerary marker chromosome, and could be a useful method for the genetic diagnosis of epilepsy syndromes associated with various chromosomal aberrations.

• Advances in pediatric surgery
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• 제13권2호
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• pp.105-111
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• 2007

We reviewed the records of 25 patients who were re-operated upon after primary repair of esophageal atresia with or without fistula at the Department of Pediatric Surgery, Seoul National University Children's Hospital, from January 1997 to March 2007. Types of the esophageal atresia anomalies were Gross type A in 5 patients, C in 18, and E in 2. The indications for re-operation were anastomosis stricture (n = 14), tracheo-bronchial remnant (n = 4), persistent anastomosis leakage (n = 3), recurrent tracheo-esophageal fistula (n = 2) and esophageal web (n = 2). The interval between primary and secondary surgery was from 48 days to 26 years 5 months (mean: 2 years and 4 months). Four patients required a third operation. The interval between the second and third operation was between 1 year 1 month and 3 year 10 month (mean: 2 years 5 months). Mean follow up period after last operation was 35 months (1 years-8 years 6 months). The secondary surgery was end-to-end esophageal anastomosis in 15, esophagoplasty in 5, gastric tube replacement in 5. After secondary operation, 6 patients had anastomosis stricture (4 patients were relieved of the symptoms by balloon dilatation, 2 patients underwent tertiary operation). Five patients had leakage (sealed on conservative management in all). Two patients had recurrent tracheo-esophagel fistula (1 patient received chemical cauterization and 1 patient underwent tertiary operation). Currently, only one patient has feeding problems. There were no mortalities. Secondary esophageal surgery after primary surgery for esophageal atresia was effective and safe, should be positively considered when complications do not respond to nonoperative therapy.

• Journal of Genetic Medicine
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• 제8권2호
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• pp.125-129
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• 2011

저자들은 고도근시, 망막이상, 납작한콧등, 구개열, 하악후퇴, 소하악증, 저신장, 양쪽 손가락의 관절구축증(arthrogryposis)이 있고, 방사선 검사상 불규칙한 대퇴골과 경골의 골단면, 척추골단이형성증이 보이는 Stickler 증후군 환자 1례에서 COL2A1 유전자의 새로운 돌연변이를 국내 최초로 증명하였기에 문헌고찰과 함께 보고하는 바이다.

• Journal of Dental Anesthesia and Pain Medicine
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• 제19권1호
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• pp.29-36
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• 2019

Background: An inability to cope with threatening dental stimuli, i.e., sight, sound, and sensation of airotor, manifests as anxiety and behavioral management problems. Behavior modification techniques involving pre-exposure to dental equipment will give children a first-hand experience of their use, sounds, and clinical effects. The aim of this study was to compare the techniques of Tell-Show-Play-doh, a smartphone dentist game, and a conventional Tell-Show-Do method in the behavior modification of anxious children in the dental operatory. Methods: Sixty children in the age group of 4-8 years, with Frankl's behavior rating score of 2 or 3, requiring Class I and II cavity restorations were divided into three groups. The groups were Group 1: Tell-Show-Play-doh; Group 2: smartphone dentist game; and Group 3: Tell-Show-Do technique and each group comprised of 20 children. Pulse rate, Facial Image Scale (FIS), Frankl's behavior rating scale, and FLACC (Face, Leg, Activity, Cry, Consolability) behavior scales were used to quantify anxious behavior. Operator compliance was recorded through a validated questionnaire. Results: The results showed lower mean pulse rates, lower FIS and FLACC scores, higher percentage of children with Frankl's behavior rating score of 4, and better operator compliance in both the Tell-Show-Play-doh and smartphone dentist game groups than in the conventional Tell-Show-Do group. Conclusion: The Tell-Show-Play-doh and smartphone dentist game techniques are effective tools to reduce dental anxiety in pediatric patients.