• Childhood Kidney Diseases
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• v.2 no.2
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• pp.161-168
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• 1998

Purpose : Lots of congenital anomalies of urinary tract including hydronephrosis are detected in fetus and neworn by popular use of prenatal ultrasonography. But there are little data available in Korea about natural course of hydronephrosis diagnosed antenatally by ultrasonography. So we intended to help management of these patients by analizing the follow up data of the neonates with hydronephrosis diagnosed antenatally. Methods : We evaluated 22 patients with neonatal hydronephrosis(33 renal units) who were diagnosed prenatally and confirmed postnatally. Especially patients with suspected ureteropelvic junction obstruction were followed regulary with renal ultrasonography and diuretic renography for 8-24 months. Results : 1) The etiologies of neonatal hydronephrosis diagnosed prenatally were suspected ureteropelvic junction obstruction($69.9\%$), vesicoureteral reflux($15.1\%$), primary megaureter($3.0\%$), double ureter with ureterocele($3.0\%$), ureteral stricture($3.0\%$), multicystic dysplastic kidney(3.0$\%$), and ureterovesical junction obstruction(3.0$\%$). 2) The follow up results of 23 renal units of suspected ureteropelvic junction obsruction: Except 4 renal units with palpable abdominal mass, of the remained 19 renal units, 14 units($73.6\%$) were improved spontaneously, 3 units($15.7\%$) remained stable, only2 units($10.5\%$) were aggravated. Conclusion : We concluded that in most cases of hydronephrosis there is no need for immediate surgery, and that nonoperative approach, using serial ultrasonography and diuretic renogram, is safe management of neonatal hydronephrosis diagnosed anteratally.

• Journal of Embryo Transfer
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• v.30 no.4
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• pp.341-344
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• 2015

A 4-day-old, male Poodle dog was presented with dull, depressed and exhausted activity after the birth. On physical examination, the puppy showed arthrogryposis, muscular atrophy and no movement of hindlimbs. Palpation on dorsum revealed an absence of lumbar and sacral vertebrae. On prenatal and postnatal radiography, lumbar vertebrae, sacrum and coccygeal vertebrae were not visualized. On ultrasonography, bilateral kidney and urinary bladder were observed. On computed tomography, there were no apparent abnormalities in the forelimbs, cervical vertebrae or head, while lumbar vertebrae, sacrum and coccygeal vertebrae were not observed. At necropsy examination, the liver, stomach, intestine, kidney and urinary bladder were normal. This congenital anomaly was consistent with Perosomus elumbis. Perosomus elumbis in dogs is a rare condition of unknown etiology. In this report, Perosomus elumbis was evaluated with radiography, ultrasound and computed tomography.

• Advances in pediatric surgery
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• v.1 no.1
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• pp.59-62
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• 1995

Meconium peritonitis is defined as an aseptic, chemical or foreign-body peritonitis caused by spill of meconium in the abdominal cavity related to the prenatal perforation of the intestine. Perforation is usually caused by obstruction from meconium ileus, intestinal atresia, stenosis, volvulus, internal hernia, congenital peritoneal bands, intussusception, or gastroschisis. Less commonly, no evidence of distal obstruction exists. Here, we present two cases of generalized meconium peritonitis of antenatal diagnosis. The first case, detected at 8 months of gestational age, had a perforation of the proximal blind pouch of jejunal atresia, associated with respiratory distress due to severe abdominal distension. This case was successfully treated with resection and anastomosis and brief period of postoperative ventilatory support. The second case had a distal ileal perforation with thick meconium in the terminal ileum. In this case, there was no dilatation of ileum proximal to the perforation site. Resection and anastomosis was performed and postoperative course was uneventful.

• Advances in pediatric surgery
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• v.20 no.2
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• pp.65-68
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• 2014

Congenital duodenal obstruction is a one of the emergent surgical conditions in neonates. Almost of them were diagnosed with double-bubble sign in prenatal ultrasonography. However, partial obstruction caused from duodenal web could be overlooked. We reported a duodenal web in early childhood. A three-year-old girl visited at our pediatric clinic for constipation. She had been showed non-bilious vomiting after weaning meal since 6 months old of her age, but her weight was relevant for 50-75 percentile of growth curve. Barium enema was initially checked, but any abnormal finding was not found. We noticed the severely distended stomach and 1st portion of duodenum. Upper gastrointestinal series revealed partial obstruction in 2nd portion of duodenum. After laparotomy, we found the transitional zone of duodenum and identified a duodenal web via duodenotomy. We performed duodeno-duodenostomy without any injury of ampulla of Vater. She was recovered uneventfully. During 6 months after operation, she does well without any gastrointestinal symptoms or signs, such as vomiting or constipation.

• Journal of Genetic Medicine
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• v.10 no.1
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• pp.38-42
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• 2013

Purpose: The purpose of this study was to assess the characteristics of achondroplasia (ACH) diagnosed in fetuses or neonates and to evaluate the usefulness of a molecular genetic testing to confirm ACH. Materials and Methods: The medical and ultrasonographic records of 16 pregnant women, who had molecular genetic testing for ACH performed on their fetus or neonate at the Cheil General Hospital between February 1999 and April 2013, were retrospectively analyzed. Detection of G1138A and G1138C mutations of the fibroblast growth factor receptor 3 (FGFR3) gene was accomplished by polymerase chain reaction - restriction fragment length polymorphism analysis. Results: Of the eight fetuses and two neonates who were suspected of having ACH during pregnancy, four fetuses and one neonate was confirmed to have ACH and they all carried the heterozygous G1138A mutation. Out of 6 cases which had a history of ACH in prior pregnancies, three had genetic information for the previous fetuses while the other three did not. All six fetuses had no mutations at G380R. However, the one fetus of pregnant woman with non-confirmed ACH showed shortened long bone on ultrasound thereafter and the fetus was identified as having oto-spondylo-megaepiphyseal dysplasia after birth. Conclusion: Korean patients with achondroplasia have the heterozygous G1138A mutation that is most commonly defined in other countries. Molecular genetic evaluations of ACH are helpful not only for establishing diagnosis but for appropriate counseling with subsequent pregnancies.

• Journal of the Korean Society of Radiology
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• v.14 no.6
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• pp.791-800
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• 2020

Ultrasonography is widely used to evaluate the function of fetal heart, but due to the subjective nature of the test, there are differences in measurement methods for each examiner, and especially the myocardial performance index has no reference index to date. Therefore, in this study, we wanted to analyze pulse Doppler waveforms of normal fetuses and develop an automatic measurement program to make objective measurements. One hundred and thirty-three pregnant women who visited the hospital for prenatal examinations were studied, myocardial performance index was measured after acquiring a pulse doppler image of the left ventricle. As a result, the early, mid and late pregnancy myocardial performance index, measured by the automatic measurement program conducted in this study, was found to increase as pregnancy continued.

• Childhood Kidney Diseases
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• v.8 no.1
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• pp.91-95
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• 2004

We report a 2-month-old boy who presented with severe hyponatremia and hyperkalemia secondary to ureteropelvic junction(VPJ) obstruction. By prenatal ultrasonography at 19 weeks of gestation, severe hydronephrosis was found which was confirmed postnatally Pyeloplasty was done on the 45th day of life, and fifteen days after pyeloplasty, non-bilious vomiting, decreased activity and dehydration developed. Severe hyponatremia and hyperkalemia were observed, as a result of elevated serum aldosterone and plasma renin activity. The anterior posterior pelvic diameter(APPD) and Society for Fetal Urology(SFU) grade measured showed no interval change before and after pyeloplasty. Pseudohypoaldosteronism was diagnosed, and 2M NaCl was administrated orally for 7 days. The electrolyte imbalance was corrected, and 8 weeks later, the elevated levels of aldosterone and plasma renin activity were normalized. The left hydronephrosis was improved at 5 months of age. We hereby report a transient pseudohypoaldosteronism secondary to UPJ obstruction with a review of the literature.

• Journal of Chest Surgery
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• v.34 no.8
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• pp.626-629
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• 2001

Congenital polyvalvular disease is a connective tissue disorder affecting more than one heart valve with variable involvement of the entire valvular and subvalvular apparatus. It is frequently associated with the Trisomy 18 and trisomy 13-15 or ventricular septal defect and patent ductus arteriosus. We present an isolated case of congenital polyvalvular disease in a new born baby with a review of the pertinent literatures, which has not been described in Korea. The mass was discovered as a right atrial mass in the prenatal ultrasonography and it was thought to be either a hematoma or a myxoma in the preoperative echocardiography. Microscopic examination of the surgically resected mass showed irregular thickening, nodulation, and additional features of calcification and ossification in the valvular connective tissue on the body of anterior and septal leaflet of tricuspid valve. Congenital polyvalvular disease should be included in the differential diagnosis in cases showing valvular calcification or ossification in the fetal echocardiography.

• The Korean Journal of Nuclear Medicine
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• v.37 no.3
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• pp.202-205
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• 2003

A 10 days old male infant with congenital megacalyces and megaureter, diagnosed by prenatal ultrasonographic screening, underwent Tc-99m DTPA renal scan for evaluation of urinary tract patency, Tc-99m DMSA scan for evaluation of renal cortical damage. He also underwent intravenous urography(IVU) and renal ultrasonography. Tc-99m DTPA renal scan demonstrates intense tracer accumulation in enlarged both renal pelvocalyses and ureters, which rapidly washout without diuretics administration. Tc-99m DMSA renal cortical scan shows no remarkable photon defect in both renal cortices and visible tracer uptake in both megaureter areas. Ultasonographic and IVU studios show enlarged both renal calyses and bullously dilated ureters, but no dilatation in renal pelvis. Follow up Tc-99m DTPA renal scan, peformed at one year later, also reveals intense tracer accumulation in enlarged both urinary tracts which rapidly washout without diuretics, and shows no significant change compare to the previous Tc-99m DTPA renal scan. Urinary tract obstruction and renal cortical damage can be easily evaluated with Tc-99m DTPA and Tc-99m DMSA scans in patiens with megacalyces and megaureter.

• Journal of Genetic Medicine
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• v.11 no.2
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• pp.74-78
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• 2014

Sotos syndrome (SS, OMIM 117550) is characterized by prenatal and postnatal overgrowth with multiple congenital anomalies. However, there have been few cases of growth retardation caused by renal failure from infancy. We report a case of dysplasia of the bilateral kidneys with renal failure and poor postnatal growth. A 2-month-old boy visited the emergency room owing to poor oral intake and abdominal distension. He was born at the gestational age of 38 weeks with a birth weight of 4,180 g. After birth, he had feeding difficulty and abdominal distension. Upon physical examination, his height and weight were in less than the 3rd percentile, while his head circumference was in the 50th percentile on the growth curve. He also showed a broad and protruding forehead and high hairline. Blood laboratory tests showed severe azotemia; emergent hemodialysis was needed. Abdominal ultrasonography revealed bilateral renal dysplasia with multiple cysts and diffuse bladder wall thickening. A posterior urethral valve was suggested based on vesicoureterography and abdominal magnetic resonance findings. Results of a colon study to rule out congenital megacolon did not reveal any specific findings. The conventional karyotype of the patient was 46, XY. Array comparative genomic hybridization study revealed a chromosome 5q35 microdeletion including the NSD1 gene, based on which SS was diagnosed. We describe a case of SS presenting with end stage renal disease due to posterior urethral valve. The typical somatic overgrowth of SS in the postnatal period was not observed due to chronic renal failure that started in the neonatal period.