• Clinical and Experimental Pediatrics
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• v.52 no.3
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• pp.376-379
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• 2009

We report a case of a premature newborn baby who presented with hyponatremia, hyperkalemia, and metabolic acidosis accompanied by severe polyhydramnios in utero. The baby was diagnosed with pseudohypoaldosteronism on the basis of normal 17-hydroxyprogesterone levels, elevated aldosterone, and clinical symptoms. His serum electrolyte levels were corrected with sodium chloride supplementation. Sodium supplementation was reduced gradually and discontinued at 5 months of age. At 5 months, the child was able to maintain normal serum electrolyte levels without oral sodium chloride supplementation, and showed normal physical and neurological development. This case illustrates that pseudohypoaldosteronism must be considered if a newborn infant with an antenatal history of severe polyhydramnios shows excessive salt loss with normal levels of 17-hydroxyprogesterone.

• Childhood Kidney Diseases
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• v.9 no.2
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• pp.255-262
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• 2005

Battler and Bartter-like syndromes, which include classic Bartter syndrome(type III), neonatat Bartter syndrome(type I, II or IV) and Gitelman syndrome, are autosomal - recessively inherited renal tubular disorders characterized b)r hypokalemic metabolic alkalosis, salt wasting and normal to low blood pressure. Neonatal Bartter syndrome is characterized by intrauterine polyhydramnios, premature delivery, life-threatening episodes of fever and dehydration, subsequent failure to thrive, and severe hypercalciuria with nephrocalcinosis and osteopenia. It is caused by mutations in NKCC2(type I), ROMK(type II) or BSND(type IV) genes. If diagnosed and treated early, the progression to renal failure can be prevented and catch-up growth and normal development are achieved. We report here a 6 month-old infant with neonatal Bartter syndrome who presented with hypokalemic metabolic alkalosis, polyhydramnios and premature delivery, persistent high fever and dehydration, failure to thrive, hypercalciuria, and nephrocalcinosis. He received indomethacin and potassium chloride per os and show ed catch-up growth and normal developmental profile at 19 months of age. (J Korean Soc Pediatr Nephrol 2005;9:255-262)

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.16 no.3
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• pp.195-199
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• 2013

Congenital chloride diarrhea (CLD) is a rare inherited autosomal recessive disorder. Mutations of the solute carrier family 26 member 3 gene cause profuse, chloride ion rich diarrhea, which results in hypochloremia, hyponatremia and metabolic alkalosis with dehydration. If a fetal ultrasound shows bowel dilatation suggestive of bowel obstruction, or if a neonate shows persistent diarrhea and metabolic alkalosis, CLD should be considered in the differential diagnosis. The severity of CLD varies, but early detection and early therapy can prevent complications including growth failure. We report a case of dizygotic twins affected by CLD who had been born to non-consanguineous parents. Both of them showed growth failure, but one of the twins experienced worse clinical course. He showed developmental delay, along with dehydration and severe electrolyte imbalance. He was diagnosed with CLD first at 6-month age, and then the other one was also diagnosed with CLD.

• Korean Journal of Bronchoesophagology
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• v.11 no.1
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• pp.32-36
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• 2005

This study aimed to report a case of infant who presented with a prenatal ultrasound diagnosis of agnathia, polyhydramnios followed by a review of previous studies. As widely acknowledge, agnathia is a complex lethal malformation characterized by absent mandible, microstomia, microglossia and ear anomaly which are secondary results to a defect of the first branchial auh. Newborn infants with agnathia often suffer from airway obstruction, causing fatal respiratory failure. The most difficult part of treating those newborns is to keep the airway patent. Therefore, as early airway management planning as possible is the most important part. Airway management was achieved with tracheotomy through an ex utero intrapartum treatment procedure(EXIT). The case of this infant, reporting here, was underwent tracheotomy with preservation of uteroplacental blood flow and gas exchange.

• Advances in pediatric surgery
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• v.3 no.2
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• pp.117-125
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• 1997

Seventy neonates with congenital intestinal atresia and stenosis who were treated at pediatric surgical service. Hanyang University Hospital from September 1979 to December 1996 were analyzed retrospectively. The lesion occurred in 27 cases at the duodenum, in 26 cases at the jeiunum, in 13 cases at the ileum and in 2 cases at the pylorus and colon each. There were 10 multiple atresias and 7 apple-peel anomaly cases. The atresia predominated over the stenosis by the ratio of 4 : 1. Male to female ratio was 1.3 : 1. The average gestational age was 38 weeks, and the average birth weight was 2,754 grams. Though 22.9 % were borne prematurely and 34.3 % had low birth weight, 92.3 % of them had a weight appropriate for gestational age. Polyhydramnios(40 %) was more frequently observed in duodenal and jeiunal atresia while microcolon in ileal atresia(58.3 %). Weight loss and electrolyte imbalance occurred more frequently in the duodenal stenosis cases because of delayed diagnosis. Twenty(55.6 %) of 37 jeiunoileal atresia cases had evidence of intrauterine vascular accident : 4 intrauterine intussusception, 3 intrauterine volvulus and 3 strangulated intestine in gastroschisis, and 10 cases of intrauterine peritonitis. There were one or more associated anomalies in 45 patients (64.3 %). Preoperatively proximal loop volvulus developed in 3 cases and proximal loop perforation in 5 cases and one case each of distal loop perforation, duodenal perforation and midgut volvulus occurred in the jeiunoileal atresia. Overall mortality rate was 20 %.

• Journal of Genetic Medicine
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• v.6 no.2
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• pp.166-169
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• 2009

Not only is the concurrence of congenital myotonic dystrophy (CDM) and subgaleal hematoma (SGH) hardly ever seen but also the development of SGH during unassisted vaginal delivery is rare. We report a boy who developed huge SGH in vaginal delivery without any use of vacuum or forceps and later was diagnosed as maternally transmitted CDM. The boy had prenatal history of polyhydramnios and decreased fetal movement. Six hours after birth, severe molding of the skull associated with huge SGH on left parieto-occipital area was recognized by CT scan. At corrected age of two months, he was diagnosed as maternally transmitted CDM. This is the first report of CDM complicated by SGH occurring in non-instrumental vaginal delivery.

• Advances in pediatric surgery
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• v.3 no.1
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• pp.15-23
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• 1997

During a 6-year period, from January 1990 to December 1995, 101 neonates with congenital anomalies were admitted to the division of Pediatric Surgery of Youngdong Severance Hospital. All of them had prenatal screening more than once with ultrasound. Fifty eight of them had prenatally detectable anomalies by ultrasonography. However abnormalities were prenatally detected in 24 neonates(41%). The detection rate was 70% in patientws who had the prenatal screening at our hospital, whereas, the rate was 24% when it was performed at other medical facilities. Duodenal and jejuno-ileal atresia showed the highest detection rate(86%) followed by abdominal mass. Esophageal atresia was suggested by maternal polyhydramnios in 3 patients (25%). Only one patient with diaphragmatic hernia(1.75%) was prenatally detected and none with gastroschisis. The mean interval from birth to operation was 32 hours in the prenatally detected patients and 50 hours in the non detected. The complication rate and the mortality after emergency operation were 20% and 7% in the detected group, and 58% and 23% in the nondetected, respectively. The average period of the hospitalization was 20 days in the detected group and 39 days in the nondetected. We conclude that the prenatal detection of anomalies is necessary to ensure adequate care for the mothers and the babies with congenital anomalies. This includes early transfer, timing of optimal delivery and operation.

• Clinical and Experimental Pediatrics
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• v.50 no.9
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• pp.868-874
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• 2007

Purpose : We performed this study to investigate the perinatal and developmental features of the patients with congenital myotonic dystrophy (CDM) confirmed by the molecular genetic method and the clinical characteristics of their mother, and to identify the relation between the number of CTG repeats and the clinical severity.Methods : A retrospective review of the medical records and the results of the dystrophia myotonica protein kinase (DMPK) gene test was done for the patients who were confirmed as CDM through gene analysis from January 2001 to September 2006. Results : All of the eight patients (male 2, female 6) showed moderate to severe degree of perinatal distress and feeding difficulty associated with profound hypotonia. Three patients had the history of polyhydramnios and two patients had equinovarus deformity. The developmental milestones were delayed in all patients, which improved gradually with age. All of their mothers demonstrated myotonic symptoms and typical myopathic face. The number of CTG repeats in DMPK gene analysis ranged 1,000-2,083, and there was no significant correlation between the number of CTG repeats and the time of walking alone. Conclusion : All patients with CDM presented with severe hypotonia in perinatal period, and developmental delay thereafter, which were improved with age. All of their mothers manifested myotonic symptoms with typical myopathic face, and the identification of such features greatly contributed to the diagnosis of the patients. The number of CTG repeats had no significant influence on the motor development.

• Clinical and Experimental Pediatrics
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• v.50 no.12
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• pp.1231-1240
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• 2007

Purpose : Bartter syndrome is a renal tubular defect in electrolyte transport characterized by hypokalemia, metabolic alkalosis and other clinical signs and symptoms. The aims of this study were to analyze the clinical manifestations and the short- and long-term outcomes of Bartter syndrome. Methods : We retrospectively reviewed clinical history, laboratory finding of blood and urine, renal ultrasonography, and hearing tests of five patients who were diagnosed and managed with Bartter syndrome at Asan Medical Center from April 1992 to May 2007. We also evaluated height and body weight periodically after institution of therapy. Results : All patients had poor oral intake, failure to thrive and polyuria. Three of them had maternal history of polyhydramnios and premature delivery. The mean age at diagnosis was 11.8 months. All children presented with hypokalemia, metabolic alkalosis, hyperreninemia. Their blood pressures were normal. One patient had nephrocalcinosis on renal ultrasonography and all of them had normal result in hearing tests. After treatment with indomethacin or other prostaglandin inhibitors and potassium supplementation,their clinical features improved with catch-up growth and improvement in the development during long-term follow-up. Conclusion : We emphasize that early diagnosis and proper treatment in patient with Bartter syndrome are related to better prognosis.

• Journal of Yeungnam Medical Science
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• v.7 no.2
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• pp.39-48
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• 1990

Congenital duodenal obstruction in the newborn infant may be due to a variety of causes. Duodenal obstruction often presents with bilious vomiting and upper abdominal distention. Diagnosis is usually established on plain x-ray of the abdomen by the classic finding of the double-bubble. In the period July 1986 to June 1990, 16 patients with congenital duodenal obstruction were operated and the following results were obtained. 1. Sixteen patients were comprised of 11 males and 5 females, the ratio of male and female was 2.2:1. 2. Thirteen patients(81%) had been admitted to our hospital during one month of life. 3. Congenital duodenal obstruction was in 16 cases; malrotation in eight(50%), annular pancreas in six(38%), type 1 atresia in one(6%), and wind-sock anomaly in one(6%). 4. There were two premature patients and six patients of small for gestational age. 5. Overall, bilious vomiting, occurring in three fourths, was the single most frequent presenting complaint. 6. Polyhydramnios occurred in two of the patients. 7. Diagnosis was possible with clinical symptom and simple abdomen. 8. The operative procedures performed were ; duodenoduodenostomy in five, duodenojejunostomy in two, excision of wind-sock membrane in one, and Ladd's procedure in eight. 9. A total of ten asociated congenital anomalies were found in six patients. 10. Postoperative complications occurred in five cases(31%).