• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제11권1호
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• pp.65-69
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• 2008

담도 폐쇄증은 수술적 치료가 필요하며 알라질 증후군은 대증적 치료가 가능하기 때문에 이를 감별하는 것이 중요하다. 저자들은 신생아기에 선천성 심장질환과 함께 담즙 정체 소견이 있는 환아에게서 원인 질환을 진단하는 과정에서 수술적 담관조영술 통해 제2형 담도 폐쇄증인 간관 폐쇄를 동반한 알라질 증후군 1예를 경험하였기에 보고하는 바이다.

• Journal of Genetic Medicine
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• 제11권1호
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• pp.36-39
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• 2014

Chromosome 3 (3p) deletion syndrome is a rare genomic disorder caused by a deletion at the terminal end of the short arm of chromosome 3. The primary characteristics of the syndrome are delayed development, dysmorphic features, and several other congenital anomalies. Here, we describe the case of a 2-year-old Korean girl with typical features of 3p deletion syndrome, including dysmorphic facial features, low birth weight, developmental delay, growth and cognitive retardation, and congenital heart disease. This case represents the first report of 3p deletion syndrome in Korea. Although phenotypes can be variable among patients, a clinically recognizable pattern has been described for this genetic defect, and our report helps to identify other cases with 3p deletion syndrome from a clinical and genetic perspective.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제18권3호
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• pp.197-201
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• 2015

Complete colonic duplication is a very rare congenital anomaly that may have different presentations according to its location and size. Complete colonic duplication can occur in about 15% of all gastrointestinal duplications. Double termination of tubular colonic duplication in the perineum is even more uncommon. We present a case of a Y-shaped tubular colonic duplication which presented with a rectovestibular fistula and a normal anus. Radiological evaluation and initial exploration for sigmoidostomy revealed duplicated colons with a common vascular supply. Endorectal mucosal resection of theduplicated distal segment till the colostomy site with division of the septum of the proximal segment and colostomy closure proved curative without compromise of the continence mechanism. Tubular colonic duplication should always be ruled out when a diagnosis of perineal canal is considered in cases of vestibular fistula alongwith a normal anus.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제21권4호
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• pp.351-354
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• 2018

Congenital antral webs are a rare but relevant cause of gastric outlet obstruction in infants and children. The condition may lead to feeding refusal, vomiting, and poor growth. Due to the relative rarity of the disease, cases of congenital antral web are frequently misdiagnosed or diagnosed with significant delay as physicians favorably pursue diagnoses of pyloric stenosis and gastric ulcer disease, which are more prevalent. We report a case of an eight-month-old female who presented with persistent non-bilious emesis, feeding difficulties, and failure to thrive and was discovered to have an antral web. The web was successfully treated with endoscopic balloon dilation, which resolved her symptoms. Two years later, the patient remains asymptomatic and is thriving with weight at the 75th percentile for her age.

• Clinical and Experimental Pediatrics
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• 제56권5호
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• pp.227-230
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• 2013

Chronic pancreatitis is a progressive inflammatory disease resulting from repeated episodes of acute pancreatitis that impair exocrine function and eventually produce endocrine insufficiency. Some causes of chronic pancreatitis appear to be associated with alterations in the serine-protease inhibitor, Kazal type 1 (SPINK1), cationic trypsinogen (PRSS1), and cystic fibrosis-transmembrane conductance regulator (CFTR ) genes, or with structural disorders in the pancreaticobiliary ductal system, such as pancreatic divisum or anomalous pancreaticobiliary ductal union (APBDU). However, it is unusual to observe both genetic alteration and structural anomaly. Here, we report 2 cases with both APBDU and a mutation in the SPINK1 genes, and we discuss the implications of these findings in clinical practice.

• Journal of Chest Surgery
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• 제52권2호
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• pp.100-104
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• 2019

Shone complex is a rare congenital disorder that involves 4 obstructive lesions of the left heart, as follows: parachute mitral valve, supravalvular mitral ring, subaortic stenosis, and coarctation of the aorta. Incomplete forms with 2 or 3 of these lesions in adult patients have been rarely reported in the literature, meaning that insufficient general data exist concerning the surgical strategy and clinical follow-up. Herein, we report the case of a 31-year-old woman with a diagnosis of incomplete form of Shone complex with parachute mitral valve and coarctation of the aorta who underwent successful single-stage surgical repair.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제24권3호
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• pp.256-264
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• 2021

Purpose: Data on the relationship between gastroesophageal reflux (GER) and brief resolved unexplained events (BRUE) in infants is scarce. The aim of this study was to identify the characteristics of combined multichannel intraluminal impedance-pH (MII-pH) monitoring in infants who have experienced BRUE. Methods: We conducted a prospective study of infants who were hospitalized on account of BRUE and required 24-hour MII-pH monitoring. Results: Twenty-one infants (mean age, 4.7 months; range, 0.9-8.9 months; male/female, 11/10) participated in this study. BRUE symptoms associated with GER were found in 10 infants (47.6%). Based on the RI on pH-metry alone, only 7 (33.3%) infants were diagnosed with GERD. More than 100 GER episodes detected by MII were found in 10 (47.6%) infants. Nineteen percent of infants were diagnosed with GERD based on both pH and MII. Conclusion: Both acid and non-acid reflux seem to play a significant role in the pathogenesis of GER-related BRUE in infants.

• Childhood Kidney Diseases
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• 제25권2호
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• pp.122-127
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• 2021

C1q nephropathy is a rare glomerulopathy that typically presents with nephrotic syndrome in children. Treatment with immunosuppressive agents renders patients vulnerable to infection and its complications. Gastroenteritis is common in children, and rotavirus is a leading cause. Extraintestinal manifestations of rotavirus have recently been reported; however, there is a paucity of cases exploring the involvement of a rotavirus on the respiratory system. Acute respiratory distress syndrome (ARDS) is a rapid onset respiratory failure characterized by noncardiogenic pulmonary edema and hypoxemia. Causes of ARDS include sepsis, pneumonia, pancreatitis, aspiration, and trauma. In this paper, we report a case of ARDS after rotavirus infection in a child with C1q nephropathy who had been treated with immunosuppressive agents.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제34권3호
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• pp.181-187
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• 2023

Objectives: This study aimed to investigate the correlation between the Comprehensive Attention Test, Korean-Wechsler Intelligence Scale for Children-Fourth Edition, and Attention-Deficit/Hyperactivity Disorder (ADHD) Rating Scale-IV scores in children and adolescents with ADHD. Methods: Fifty-five children and adolescents diagnosed with ADHD and not taking psychiatric medications were included in this retrospective study. A correlation analysis was performed. Results: Although simple visual and auditory selective attention have diagnostic value in traditional continuous performance tests, this study revealed that inhibition-sustained attention and interference-selective attention are also effective in evaluating ADHD. Furthermore, the correlation between the attention and intelligence test scores varied depending on the use of visual or auditory stimuli. Conclusion: The findings of this study contribute to clarifying our understanding of the cognitive characteristics of children and adolescents with ADHD and can be used in future research.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제20권3호
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• pp.153-159
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• 2017

Purpose: Acid neutralization during chemical clearance is significantly prolonged in children with cystic fibrosis, compared to symptomatic children without cystic fibrosis. The absence of available reference values impeded identification of abnormal findings within individual patients with and without cystic fibrosis. The present study aimed to test the hypothesis that significantly more children with cystic fibrosis have acid neutralization durations during chemical clearance that fall outside the physiological range. Methods: Published reference value for acid neutralization duration during chemical clearance (determined using combined impedance/pH monitoring) was used to assess esophageal acid neutralization efficiency during chemical clearance in 16 children with cystic fibrosis (3 to < 18 years) and 16 age-matched children without cystic fibrosis. Results: Duration of acid neutralization during chemical clearance exceeded the upper end of the physiological range in 9 of 16 (56.3%) children with and in 3 of 16 (18.8%) children without cystic fibrosis (p=0.0412). The likelihood ratio for duration indicated that children with cystic fibrosis are 2.1-times more likely to have abnormal acid neutralization during chemical clearance, and children with abnormal acid neutralization during chemical clearance are 1.5-times more likely to have cystic fibrosis. Conclusion: Significantly more (but not all) children with cystic fibrosis have abnormally prolonged esophageal clearance of acid. Children with cystic fibrosis are more likely to have abnormal acid neutralization during chemical clearance. Additional studies involving larger sample sizes are needed to address the importance of genotype, esophageal motility, composition and volume of saliva, and gastric acidity on acid neutralization efficiency in cystic fibrosis children.