Clinical Features of Severely Constipated Children: Comparison of Infrequent Bowel Movement and Fecal Soiling Groups / 대한소아소화기영양학회지

Acute myocarditis associated with non-typhoidal Salmonella gastroenteritis

Acute myocarditis is clinically rare in children, but poses a significant risk for morbidity and mortality. Children with myocarditis show a wide variety of clinical manifestations ranging from subclinical myocarditis to heart failure, hemodynamic compromise, arrhythmia, and even sudden death. Salmonella species are associated with clinical presentations including gastroenteritis, enteric fever, bacteremia, and extra-intestinal focal infections. Non-typhoidal Salmonella infections usually cause self-limiting gastroenteritis, but are rarely associated with myocarditis. In this report, we present a case of myocarditis associated with Salmonella serogroup B gastroenteritis in a previously healthy 15-year-old boy.

Clinical Findings of Menkes Disease and the Treatment of Epilepsy / 대한소아신경학회지

Menkes disease (also known as kinky hair disease) is an X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by kinky hair, hypotonia, and generalized myoclonic seizures. Here, we report a case of Menkes disease in which the patient presented with progressive hypotonia and intractable seizures. A 4-month-old male infant visited our pediatric clinic for focal seizures with blinking eyes. He was generally hypotonic and suffered from malnutrition. The focal seizures became more frequent, and the patient became intractable to anti-seizure medications. An electroencephalogram (EEG) indicated diffuse cerebral dysfunction with focal seizure, and a brain magnetic resonance imaging (MRI) showed tortuous and ectatic intracranial arteries, as well as several ischemic lesions. A genetic analysis was performed, and a c.2473_2474del (p.Leu825fsX1) of the ATP7A gene was detected.

Kawasaki Disease with Fever and Cervical Lymphadenopathy as the Sole Initial Presentation

BACKGROUND AND OBJECTIVES: Some patients with Kawasaki disease (KD) present with fever and cervical lymphadenopathy alone. The purpose of this study was to characterize the clinical features of these unusual KD patients and determine whether this is a severe form of KD associated with increased risks of intravenous immunoglobulin (IVIG) resistance and coronary artery lesions (CALs). SUBJECTS AND METHODS: A total of 146 children with KD were reviewed retrospectively, and classified into two groups according to initial clinical features. Those presenting with only fever and cervical lymphadenopathy (LKD) were classified as LKD patients. Other-KD patients included all except the LKD patients. RESULTS: Among 146 KD patients, 13 (8.9%) were classified as LKD patients. The LKD patients were significantly older and admitted earlier. The duration between fever onset and KD diagnosis was significantly longer in the LKD patients (5.9 days vs. 4.9 days, p=0.023). The frequency of IVIG resistance was not different between the two groups., In the LKD patients, the incidence of CALs was significantly higher in the acute phase, and without significant difference in the convalescent phase. The percentage of neutrophils and C-reactive protein, albumin, and total bilirubin levels were significantly higher in LKD patients. CONCLUSION: Even though LKD patients were older, admitted earlier, and had higher inflammatory marker levels, they did not have a greater risk of CALs or IVIG resistance. However, echocardiography may be helpful in the acute stage if patients have only fever and cervical lymphadenopathy and are unresponsive to empirical antibiotics.

Correlation between Colon Transit Time Test Value and Initial Maintenance Dose of Laxative in Children with Chronic Functional Constipation / 대한소아소화기영양학회지

PURPOSE: To evaluate the correlation between colon transit time (CTT) test value and initial maintenance dose of polyethylene glycol (PEG) 4000 or lactulose. METHODS: Of 415 children with chronic functional constipation, 190 were enrolled based on exclusion criteria using the CTT test, defecation diary, and clinical chart. The CTT test was performed with prior disimpaction. The laxative dose for maintenance was determined on the basis of the defecation diary and clinical chart. The Shapiro-Wilk test and Pearson's and Spearman's correlations were used for statistical analysis. RESULTS: The overall group median value and interquartile range of the CTT test was 43.8 (31.8) hours. The average PEG 4000 dose for maintenance in the overall group was 0.68±0.18 g/kg/d; according to age, the dose was 0.73±0.16 g/kg/d (<8 years), 0.53±0.12 g/kg/d (8 to <12 years), and 0.36±0.05 g/kg/d (12 to 15 years). The dose of lactulose was 1.99±0.43 mL/kg/d (<8 years) or 1.26±0.25 mL/kg/d (8 to <12 years). There was no significant correlation between CTT test value and initial dose of laxative, irrespective of the subgroup (encopresis, abnormal CTT test subtype) for either laxative. Even in the largest group (overall, n=109, younger than 8 years and on PEG 4000), the correlation was weak (Pearson's correlation coefficient [R]=0.268, p=0.005). Within the abnormal transit group, subgroup (n=73, younger than 8 years and on PEG 4000) correlation was weak (R=0.267, p=0.022). CONCLUSION: CTT test value cannot predict the initial maintenance dose of PEG 4000 or lactulose with linear correlation.

Value of 24-hour Delayed Film of Barium Enema for Evaluation of Colon Transit Function in Young Children with Constipation

BACKGROUND/AIMS: A colon transit time test using radio-opaque markers (CTTRM) is considered the gold standard for evaluating colon transit function. A 24-hour delayed film of barium enema (BE) has been used as a supplementary method in structural evaluations. The aim of this study was to evaluate the utility of a 24-hour delayed BE film for assessing colon transit function in young children with constipation. METHODS: In total, 93 children with constipation who performed both single-contrast BE and CTTRM were enrolled in this study. Of these, the data from 70 children were analyzed (males 33, females 37; mean age [range], 5.63 ± 2.94 [2-14] years). The basic principle of the study is "velocity = distance/time". Time values were identified in both studies, and the colon length and distance of barium movement were measured on the 24-hour delayed BE film. Thus, colon transit velocity values could be calculated using both methods. The correlation between colon transit velocity using a 24-hour delayed BE film versus CTTRM was analyzed statistically. RESULTS: Median value (interquartile range) of colon transit velocity using CTTRM was 1.57 (1.07-2.89) cm/hr, and that using BE of that was 1.58 (0.94-2.07) cm/hr. The Spearman correlation coefficient was 0.438 (P < 0.001) for the overall group. The correlation was strongest in children younger than 4 years (r = 0.537, P = 0.032). CONCLUSIONS: Although the correlation between BE and CTTRM was not very strong, the 24-hour delayed BE film could provide broad information about colon transit function in young children, especially those under 4 years who usually cannot undergo CTTRM.

Colon Transit Time Test in Korean Children with Chronic Functional Constipation / 대한소아소화기영양학회지

PURPOSE: Each ethnic group has a unique life style, including diets. Life style affects bowel movement. The aim of this study is to describe the results of colon transit time (CTT) tests in Korean children who had chronic functional constipation based on highly refined data. METHODS: One hundred ninety (86 males) out of 415 children who performed a CTT test under the diagnosis of chronic constipation according to Rome III criteria at Konkuk University Medical Center from January 2006 through March 2015 were enrolled in this study. Two hundreds twenty-five children were excluded on the basis of CTT test result, defecation diary, and clinical setting. Shapiro-Wilk and Mann-Whitney U, and chi-square tests were used for statistical analysis. RESULTS: The median value and interquartile range (IQR) of CTT was 54 (37.5) hours in Encopresis group, and those in non-encopresis group was 40.2 (27.9) hours (p<0.001). The frequency of subtype between non-encopresis group and encopresis was statistically significant (p=0.002). The non-encopresis group (n=154, 81.1%) was divided into normal transit subgroup (n=84, 54.5%; median value and IQR of CTT=26.4 [9.6] hours), outlet obstruction subgroup (n=18, 11.7%; 62.4 [15.6] hours), and slow transit subgroup (n=52, 33.8%; 54.6 [21.0] hours]. The encopresis group (n=36, 18.9%) was divided into normal transit subgroup (n=8, 22.2%; median value and IQR of CTT=32.4 [9.9] hours), outlet obstruction subgroup (n=8, 22.2%; 67.8 [34.8] hours), and slow transit subgroup (n=20, 55.6%; 59.4 [62.7]hours). CONCLUSION: This study provided the basic pattern and value of the CTT test in Korean children with chronic constipation.

Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome

Barth syndrome (BTHS) is a rare genetic disorder characterized by various types of cardiomyopathy, neutropenia, failure to thrive, skeletal myopathy, and 3-methylglutaconic aciduria. BTHS is caused by loss-of-function mutations in the tafazzin (TAZ) gene located on chromosome Xq28, leading to cardiolipin deficiency. We report a 13-month-old boy with BTHS who had a novel de novo mutation in the TAZ gene. To the best of our knowledge, this is the first reported case of a BTHS patient with a de novo mutation in Korea. This report will contribute towards expanding the knowledge on the mutation spectrum of the TAZ gene in BTHS.

Stepwise Approach Using Combined Management in Patients with Congenital Heart Disease and Borderline Pulmonary Vascular Disease

BACKGROUND AND OBJECTIVES: Despite remarkable advances in pediatric cardiology, pulmonary arterial hypertension associated with congenital heart disease remains a major problem. In the past decade new vasodilators have been introduced and appear to be effective in reducing pulmonary vascular resistance (PVR). SUBJECTS AND METHODS: From 2000 to 2011, we retrospectively reviewed the records of 22 patients who had congenital septal defects and borderline pulmonary vascular disease (PVD). The PVR in these patients was from 6 to 16 wood units . m2, and/or the systolic pulmonary arterial pressure was more than 2/3 of the systemic arterial pressure. RESULTS: The median age was 16 years (range, 9 months-46 years). The median duration of follow-up was 7.4 years (range, 1.4-11.7 years). According to hemodynamic data and clinical symptoms, the initial management comprised targeted medical therapy in four (18%), complete closure in four (18%), and partial closure in 14 patients (63.6%). In the four patients who had a high PVR and negative vasoreactivity, the PVR decreased and vasoreactivity increased after targeted medical therapy; three of these patients underwent cardiac surgery later. Finally, 11 (50%) received targeted medical therapy and 21 patients (95.4%) underwent cardiac surgery. Complete closure resulted in six patients and partial closure in 17 patients. Mortality was observed in two patients. The other 19 patients (91%) had New York Heart Association functional class I. CONCLUSION: Targeted medical therapy may be effective in reducing PVR in patients with congenital heart disease and borderline PVD. A stepwise approach may help to achieve improved outcomes in these patients.

Value of serum 1,5-anhydroglucitol measurements in childhood obesity in the continuum of diabetes

PURPOSE: The prevalence of type 2 diabetes mellitus (T2DM) and obesity are currently increasing. Accordingly, the concept of "preventing diabetes" in high-risk groups has become more important in diabetic care, but the use of glycated hemoglobin (HbA1c) as a measure has limitations in this field. The aim of this study was to investigate the utility of 1,5-anhydroglucitol (1,5-AG) in assessing prediabetes status in obese children. METHODS: The medical records of 74 subjects aged 6-19 years (of which 27 were overweight/obese and 47 had diabetes) who had 1,5-AG data were reviewed retrospectively. We compared 1,5-AG with HbA1c using the Pearson correlation test to assess the clinical utility of 1,5-AG. RESULTS: 1,5-AG levels were higher (31.1+/-10.1 microg/mL vs. 7.4+/-7.3 microg/mL) and HbA1c levels were lower (5.5%+/-0.3% vs. 8.9%+/-2.7%) in the overweight/obese group than in the diabetics group. The range of 1,5-AG levels in obese children was wide (16.8-59.3 microg/mL), and did not have significance with HbA1c. A negative correlation between 1,5-AG and HbA1c was significant in the entire subject (r=-0.822, P<0.001), and also in the HbA1c range of 5.5% to 8% (r=-0.736, P<0.001). CONCLUSION: 1,5-AG is a valuable index in the HbA1c range of 5.5%-8% and it might be considered an early glycemic control index in insulin-resistant obese children with an HbA1c level above 5.5%. Moreover, the 1,5-AG level assessment should be presented as a supplementary tool for better compliance, as well as being an improvement in diabetes management for the short-term glucose control in relatively well-controlled diabetes patients with an HbA1c level below 8%.

Height-Based Formula Predicting Renal Length in Korean Children derived from Technesium-99m Dimercaptosuccinic Acid Scan

PURPOSE: The aim of this study was to establish a simple formula to predict renal length in children using a Technesium-99m dimercaptosuccinic acid (DMSA) scan data, and to compare it with the formula derived from ultrasonography, which is widely accepted. METHODS: Children who underwent a DMSA scan and ultrasonography were reviewed retrospectively, and those who had anatomical urinary tract abnormalities or urinary tract infections were excluded. RESULTS: A total of 230 children (84 males and 146 females; age, 1 month to 16 years; mean age, 16.8 +/- 27.4 months). Mean renal length measured by DMSA scan was longer than that by ultrasonography (6.38 +/- 1.16 vs. 6.02 +/- 1.14 cm; P < 0.001). Renal length was correlated with age, weight, height, and body surface area on the DMSA scan and ultrasonography, and showed the strongest positive correlation with height. The following formulae were established to predict renal length: mean renal length (cm) = 5.433 x height (m) + 2.330 (R2, 0.833) using the DMSA scan data, and mean renal length (cm) = 5.367 x height (m) + 2.027 (R2, 0.853) using ultrasonography data. CONCLUSION: We propose a simple height-based formula to predict renal length in children using a DMSA scan data, and validate it by comparing with ultrasonography formula.

The Relevance between Renal Ultrasonographic Findings and Disease Course in Two Poststreptococcal Glomerulonephritis (PSGN) Patients

Poststreptococcal glomerulonephritis (PSGN) is one of the most well-known and important infectious renal diseases resulting from a prior infection with group A beta-hemolytic streptococcus. The typical clinical characteristics of the disease reflect acute onset with gross hematuria, edema, hypertension and moderate proteinuria after the antecedent streptococcal infection. In children, usually PSGN is healed spontaneously but if it combines with fast progressing glomerulonephritis, it would be developed to chronic renal failure. Therefore, it is important to make a fast diagnosis and treatment by simple tools to predict the course and the prognosis of disease. Sonography is a simple tool for diagnosis but there is no typical renal sonographic finding in PSGN, so it is difficult to predict the course and the prognosis of disease by sonographic findings. In comparison between two cases of renal sonographic findings in PSGN, a patient who showed more increased echogenicity in more extended area of renal sonography had the severe results of renal pathology, prolonged treatment period and low serum C3 level. Here, we report the different findings of renal sonography and pathology depending on the degree of severity between two patients. Thus, it is necessary to gather more information from further studies to make a consensus about the relationship between the renal sonography and the prognosis of disease in PSGN.

Hybrid Procedure for Pulmonary Atresia with Ventricular Septal Defect in a Low Birth Weight Neonate

Cardiac surgery in neonates with congenital heart disease has progressed dramatically in the past three decades. However, low-birth-weight neonates with congenital heart disease continue to challenge the intellectual and technical skills of healthcare professionals. We present a case of a low-birth-weight neonate with pulmonary atresia and a ventricular septal defect, in whom palliation was achieved with a right ventricular outflow tract stent using a hybrid procedure.

Effect of Small Hairpin RNA Targeting Endothelin-Converting Enzyme-1 in Monocrotaline-Induced Pulmonary Hypertensive Rats

The purpose of this study was to investigate the therapeutic effects of small hairpin RNA (shRNA) targeting endothelin-converting enzyme (ECE)-1 in monocrotaline (MCT)-induced pulmonary hypertensive rats. Ninty-four Sprague-Dawley rats were divided into three groups: control (n = 24), MCT (n = 35) and shRNA (n = 35). Four-week survival rate in the shRNA group was significantly increased compared to that in the MCT group. The shRNA group showed a significant improvement of right ventricular (RV) pressure compared with the MCT group. The MCT and shRNA groups also showed an increase in RV/(left ventricle + septum) ratio and lung/body weight. Plasma endothelin (ET)-1 concentrations in the shRNA group were lower than those in the MCT group. Medial wall thickness of pulmonary arterioles were increased after MCT injection and was significantly decreased in the shRNA group. The number of intra-acinar muscular pulmonary arteries was decreased in the shRNA group. The mRNA expressions of ET-1 and ET receptor A (ETA) were significantly decreased in the shRNA group in week 4. The protein levels of ETA were decreased in the shRNA group in week 2. The protein levels of tumor necrosis factor-alpha and vascular endothelial growth factor were decreased in the shRNA group in week 4. In conclusion, the gene silencing with lentiviral vector targeting ECE-1 could be effective against hemodynamic, histopathological and gene expression changes in pulmonary hypertension.

Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease

Menkes disease is an infantile-onset X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by progressive hypotonia, seizures, failure to thrive and death in early childhood. Here, we report a case of Menkes disease presented by intractable seizures and infantile spasms. A 3-month-old male infant had visited our pediatric clinic for lethargy, floppy muscle tone, poor oral intake and partial seizures. His hair was kinky, brown colored and fragile. Partial seizures became more frequent, generalized and intractable to antiseizure medications. An EEG showed frequent posteriorly dominant generalized spikes that were consistent with a generalized seizure. From a genetic analysis, a c.2743C>T (p.Gln915X) mutation was detected and diagnosed as Menkes disease. The mutation is a novel one that has not been previously reported as a cause of Menkes disease.

Prevalence and Clinical Characteristics of Pertussis in Children, Cheonan, Korea / 소아감염

PURPOSE: A number of countries have experienced an increase in pertussis during the past decade. In particular, there has been an increase in the incidence rate among adolescents and adults. To learn more about the current epidemiology of pertussis, we studied the prevalence and clinical characteristics of pertussis in children in Cheonan, South Korea. METHODS: We collected nasopharyngeal aspirates of 118 patients who were treated for respiratory symptoms at Dankook Univeristy Hospital between March 2008 and September 2009. We performed multiplex PCR for detection of Bordetella pertussis in those aspirates. RESULTS: Of the 118 patients, 10 (8%) were positive by PCR for B. pertussis. Six episodes occurred during the period July to September 2009. Nine of the 10 patients were less than 3 months old. Seven of them had not received DTaP vaccine. The mean duration of coughing before diagnosis was 10.9+/-5.2 days. Ten patients (100%) had paroxysmal cough and 8 (80%) had post-tussive vomiting. Only one patient had fever. One who had complications that include pneumonia, atelectasis and pneumomediastinum developed an absolute increase in leukocyte count (84,400/mm3). There was a statistically significant relation between vaccine being received and development of complications (P=0.033). CONCLUSION: We suspect that there was an epidemic of pertussis between July and September 2009. Further investigation by a pediatric or nationwide surveillance system is needed to monitor the changing epidemiology for pertussis.

Pseudocoarctation of the Aorta Associated with the Anomalous Origin of the Left Vertebral Artery: a Case Report

Pseudocoarctation of the aorta is a rare congenital anomaly of the aortic arch, and it has been described as an elongation of the aortic arch with "kinking" at the level of the ligamentum arteriosum without a pressure gradient across the lesion. The treatment for this condition is controversial. We report here on an unusual case of pseudocoarctation of the aorta associated with the anomalous origin of the left vertebral artery and we include a review of the medical literature.

A Case of Fixed Drug Eruption Caused by Acetaminophen in a Child / 소아알레르기및호흡기학회지

Fixed drug eruption (FDE) is an eruption, which recurs at the same site or sites on each administration of the causative drug, and heals with residual hyperpigmentation. FDE is caused by many drugs, barbiturates, tetracyclines, sulfonamide, and phenolphthalein. Salicylate and nonsteroidal anti-inflammatory drugs (NSAIDs) also cause FDE, but acetaminophen does so only rarely. A 9-year-old girl presented with a 3-year-history of symptomatic pigmented macules on her face, abdomen, and extremities. The eruption was first appeared three years ago, which was when she took medicine after she was discharged following suspicions of Kawasaki disease. Thereafter, she had the same eruption on the same sites when she took medicine for common colds including acetaminophen and ibuprofen. The oral challenge provocation test for ibuprofen was negative, whereas for acetaminophen it was positive. We report a rare case of FDE due to acetaminophen with clinical findings and results of oral challenge test.

Surgical Outcome and Time of Operation in Ebstein's Anomaly

PURPOSE: Ebstein's anomaly is characterized by ongoing tricuspid regurgitation and right ventricular dysfunction. It is difficult to decide the proper time of surgical correction. The purpose of this study is to evaluate the advantage of early surgical correction of Ebstein's anomaly. METHODS: The clinical records of the sixteen patients, who had undergone tricuspid valvuloplasty with plication of the atrialized RV and followed-up for more than five years, were reviewed. Surgical outcome was analysed as regards year of surgery, age of the patients, echocardiographic grade of severity, Carpentier type, associated cardiac defects, and type of surgery. RESULTS: Of sixteen patients, eight patients underwent tricuspid valve repair before 5 years(8 months to 5 years, mean 2.4 years) of age(group A), and eight patients underwent tricuspid valve repair after 5 years(6 to 23 years, mean 12.9 years) of age(group B). Immediately after the operation, tricuspid incompetence regressed significantly in 5 of group A, and 5 of group B, and reduction in heart size was usual. After short and mid- term follow-up period, four of group A showed mild tricuspid valve regurgitation and right ventricular dilatation and relatively well preserved right ventricular function. However, all of group B showed severe right ventricular dilatation with severe tricuspid regurgitation and both ventricular dysfunction. All of group A were in New York Heart Association class I. However, in group B, only three were in class I. Two of group B died of right heart failure 10 and 16 years after the surgical correction, respectively. The year of surgery, mean follow-up periods, associated cardiac defects, and the preoperative echocardiographic grade of the severity were not different significantly between two groups. But there was a difference between two groups in the mean age of the patients, 12.7+/-5.2 years in group A, 21.7+/-5.5 years in group B. The surgical outcome was not closely related to Carpentier types of Ebstein's anomaly. CONCLUSION: Early repair of tricuspid valve may be advantageous to prevent progressive dilatation of the right side heart and to preserve right ventricular function after surgical correction. But the aging factor was not corrected in our study and it is still necessary to follow-up for a longer period in larger patients group.

A Case of Fetal Intracardiac Tumor Detected on Fetal Echocardiography

Primary tumors of the heart are uncommon in the fetus and neonate and are most often histologically benign. Rhabdomyoma is the most common cardiac tumor in the fetus and pediatric population which is followed in frequency by fibroma and teratoma. Rhabdomyomas are usually multiple, solid, and lobulated and an estimated 50-86% of rhabdomyoma cases are associated with tuberous sclerosis. Since spontaneous regression of rhabdomyoma is well documented, surgical intervention is recommended only for those patients with severe hemodynamic compromise or for those with persistent arrhythmias. A case of rhabdomyoma detected by fetal echocardiography, which was proved by autopsy, is reported.