• Clinical and Experimental Pediatrics
• /
• v.49 no.8
• /
• pp.870-874
• /
• 2006

Purpose : Popular use of fetal ultrasonography has increased to detect congenital hydronephrosis(CH) which is the most common anomaly prenatally detected. We'd like to determine the frequency and clinical characteristics of prenatally diagnosed CH and outcome of ureteropelvic junction stenosis(UPJS). Methods : The records of births between January 1994 and June 2003 in Chonnam National University Hospital(CNUH), and the records of children who were diagnosed with CH in the Department of Pediatrics of CNUH during the above period, were retrospectively analyzed. In the patients with UPJS, the initial anterior posterior diameters of renal pelvis(APD) were compared between the spontaneous regression (SR) and operation group(OP). In the SR group, sequential regression rates of APD were estimated. Results : Among a total 9,076 births, 231(2.54 percent) patients with 293 renal units were diagnosed as CH and 19(6.78 percent) renal units spontaneously regressed 3 days after birth. In 228 children(56 bilateral; 172 unilateral; total 284 renal units) diagnosed with CH in the department of pediatrics of CNUH, male(71.9 percent) and left kidney(69.2 percent) predilection were found and 78.1 percent of CH were caused by UPJS. The initial APD of the SR group(121 units) in UPJS was $7.8{\pm}6.28mm$, which was significantly smaller than the APD($26.8{\pm}12.14mm$) of the OP group(25 unit)(P<0.05). In the SR group, 81 percent spontaneously regressed within one year. Conclusions : In CH, male and left kidney predilection were found. UPJS was the most common cause of CH and initial APD in UPJS at 3 days of age was a good prognostic indicator. Close monitoring should be done for at least one year because most SR in UPJS regressed spontaneously within one year.

• Korean Journal of Veterinary Research
• /
• v.51 no.1
• /
• pp.63-67
• /
• 2011

Supernumerary ectopic limb(s) (SEL) is a congenital anomaly defined as the presence of accessory limb(s) attached to various body regions. This paper describes a case of SEL with ectopic lung and ectopia cordis in a newborn calf, based on macroscopic, microscopic and radiographic findings. External features of multiple congenital anomalies included an ectopic lung growing over the middle of the backbone and covered with normal haired skin. Ectopia cordis was found in the abdominal cavity and attached to the liver. Two extra abnormal limbs originated separately from within the ectopic lung. Most of the abdominal organs were exposed to the outside through the opened abdominal cavity. Microscopically the ectopic lung tissue had edema in the connective tissue around the bronchus and artery. Changes in other organs included congestion of the renal medulla, infiltration of inflammatory cells (lymphocytes and eosinophils) around the hepatic portal tract, and edema surrounding blood vessels and neurons in the brain. The rudimentary humerus of the forelimb was attached to the thoracic spine, as viewed radiographically. The hindlimb was consisted of an irregularly shaped femur, short tibia and fibula, two tarsal bones, one metatarsal bone, and three phalanges. This is the first description of congenital anomalies involving the SEL, ectopic lung and ectopia cordis in a calf.

• Journal of Chest Surgery
• /
• v.24 no.3
• /
• pp.310-321
• /
• 1991

Between April 1986 and September 1990, 34 patients with a single or dominant right ventricle underwent modified Fontan procedure for definite palliation in Seoul National University Children`s Hospital. Their age at operation ranged from 8 months to 14 years [Mean 5.5 years]. The ventricular chamber was solitary and of indeterminate trabecular pattern in 6 patients. 28 patients had posteriorly located rudimentary chamber, all of which were trabecular pouches having no communication with outlet septum. The patterns of atrioventricular connection were common inlet[9], double inlet [11], left atrioventricular valve atresia [12] and right atrioventricular valve atresia with L-loop [2]. Pulmonary outflow tracts were atretic in 7 patients and stenotic in 26 patients. Major associated anomalies included anomalous systemic venous drainage [15], dextrocardia [12] and total anomalous pulmonary venous connection[3]. Shunt operations were previously performed in 13 patients and pulmonary artery banding and atrial septectomy in 1 patients. Surgery included intraatrial baffling in 26 patients, bidirectional cavopulmonary shunt in 13 patients, atrioventricular valve obliteration in 3 patients and atrioventricular valve replacement in 3 patients. Central venous pressure measured postoperatively at intensive care unit ranged from 18cm H2O to 28cm H2O [mean 23.2cm H2O]. Hospital mortality was 35.3% [12/34], all died out of low output syndrome. Suspected causes of low output syndrome include ventricular dysfunction [8], hypoplastic or tortuous pulmonary artery [2] and elevated pulmonary vascular resistance [2]. 19 patients had 31 major complications including low output syndrome [18], arrhythmia [4], acute renal failure [3] and respiratory failure [3]. Mortality rate was significantly higher in the groups receiving intraatrial baffling and AV valve replacement respectively [p<0.05]. 20 patients were followed up postoperatively with the mean follow-up period 15.0$\pm$11.6 months. There were no late death and follow-up catheterization was performed in 10 patients. Mean right atrial pressure was 15.4$\pm$6.8mmHg and ventricular contraction was reasonable in all but one case. Thus, Fontan principle can be applied successfully to all the patients with complex cardiac anomaly of single ventricle variety and better results can be anticipated with judicious selection of patient and improvement of postoperative care.

• Journal of Chest Surgery
• /
• v.34 no.7
• /
• pp.547-551
• /
• 2001

The effects of deep hypothermia and circulatory arrest during aortic arch reconstruction are associated with potential neurologic and myocardial injury. We describe a surgical technique that two patients underwent a modified Norwood procedure without circulatory arrest and myocardial ischemia. One was 13-day-old female patient, weighing 3.1kg, having a variant of hypoplastic left heart syndrome and another was 38-day-old male patient, weighing 3.4 kg, diagnosed Taussig-Bing anomaly with severe aortic arch hypoplasia, coarctation of the aorta, and subaortic stenosis. The arterial cannula was inserted in innominate artery directly. During Norwood reconstruction, regional high-flow perfusion into the inominate artery and coronary perfusion were maintained and there were no neurologic, cardiac, and renal complications in two patients. This technique may help protect the brain and myocardium from ischemic injury in patients with hypoplastic left heart syndrome or other arch anomalies including coarctation or interruption.

• Journal of Genetic Medicine
• /
• v.12 no.1
• /
• pp.44-48
• /
• 2015

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies, and endocrine and eye abnormalities can accompany TBS, although less frequently. TBS is inherited in an autosomal dominant fashion; however, about 50% of patients have a family history of TBS and the remaining 50% have de novo mutations. SALL1, located on chromosome 16q12.1, is the only causative gene of TBS. SALL1 acts as a transcription factor and may play an important role in inducing the anomalies during embryogenesis. Clinical features of TBS overlap with those of other multiple anomaly syndromes, such as VACTERL syndrome, Baller-Gerold syndrome, Goldenhar syndrome, cat eye syndrome, and Holt-Oram syndrome. Consequently, there are some difficulties in differential diagnosis based on clinical manifestations. Herein, we report a Korean family with two generations of TBS that was diagnosed based on physical examination findings and medical history. Although the same mutation in SALL1 was identified in both the mother and the son, they displayed different clinical manifestations, suggesting a phenotypic diversity of TBS.

• Journal of Genetic Medicine
• /
• v.8 no.1
• /
• pp.67-70
• /
• 2011

Constitutional trisomy 8 mosaicism (CT8M) is a relatively rare aneuploidy in humans with characteristic phenotypes including typical craniofacial feature (such as deformed skull, prominent forehead, low-set and/or dysplastic ears), skeletal malformation, cardiac anomaly, renal malformation, cryptochidism, varying degree of developemental delay. Due to the extremely variable phenotypic and cytogenetic expression, CT8M has gone undiagnosed in certain patients. We report a 28-year-old women with secondary amenorreha without characteristic CT8M phenotype. Chromosomal analysis showed a CT8M (47,XX,+8[9]/46,XX[41]).

• Journal of Genetic Medicine
• /
• v.14 no.1
• /
• pp.43-47
• /
• 2017

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects. This genetic disorder is caused by partial duplication of chromosome 22, mostly as a result of a supernumerary isodicentric marker chromosome idic(22)(q11.2). Various congenital abnormalities and extreme phenotypic variability in CES patients have been reported, which have made prenatal diagnosis of CES difficult. We report the first case diagnosed with CES prenatally by multiplex ligation-dependent probe amplification in a woman who was referred to our hospital, for a fetus presenting with heart anomaly.

• Journal of Genetic Medicine
• /
• v.18 no.2
• /
• pp.142-146
• /
• 2021

Alagille syndrome (AGS) is a rare autosomal dominant inherited disorder, with major clinical manifestations of bile duct paucity, cholestasis, cardiovascular anomaly, ophthalmic abnormalities, butterfly vertebrae, and dysmorphic facial appearance. It is caused by heterozygous mutations in JAG1 or NOTCH of the Notch signaling pathway presenting with variable phenotypic penetrance and involving multiple organ systems. The following case report describes a unique case of a 16-year-old female with AGS who presented with the primary complaint of renovascular hypertension. She had a medical history of ventricular septal defect and polycystic ovary syndrome. The patient had a dysmorphic facial appearance including frontal bossing, bulbous tip of the nose, a pointed chin with prognathism, and deeply set eyes with mild hypertelorism. Stenoocclusive changes of both renal arteries, celiac artery, lower part of the abdominal aorta, and left intracranial artery, along with absence of the left internal carotid artery were found on examination. Whole exome sequencing was performed and revealed a pathologic mutation of JAG1, leading to the diagnosis of AGS. Reverse phenotyping detected butterfly vertebrae and normal structure and function of the liver and gallbladder. While the representative symptom of AGS in most scenarios is a hepatic problem, in this case, the presenting clinical features were the vascular anomalies. Clinical manifestations of AGS are diverse, and this case demonstrates that renovascular hypertension might be in some cases a presenting symptom of AGS.

• Journal of Chest Surgery
• /
• v.29 no.8
• /
• pp.828-835
• /
• 1996

From January 1993 to April 1995, 27 neonates (under age of 30 days underwent open heart surgery in the Department of Thoracic and Cardiovascular Surgery, Dong-A Medical Center. Mean age and weight were 12.1 days(2days∼306ays) and 3.29 kg(2.6kg∼4.1 kg) respectively. Cardiac anomalies were simple complete transposition of great arteries(TGA) in 11 neonates, TGA with coarctation of aorta(COA) in 1 , total anomalous pulmonary venous connection(TAPVC) in 5, double inlet right ventricle with TAPVC in 1, interrupted aortic arch(IAA) with ventricular septal defect(VSD) in 3, pulmonary atresia(PA) with intact ventricular septum(IVS) in 3, pulmonary stenosis with IVS in 1, Taussig-Bing anomaly with IAA in 1, and hypoplastic left heart syndrome(HLHS) in 1 . Postoperative complications were myocardial and/or pulmonary edema which caused open sternum in 13 patients(54.2%), acute renal failure( RF) in 10(37.0%), Intractable low cardiac output syndrome (LCOS) including weaning failure from cardiopulmonary bypass in 7(25.9%), bronchopulmonary dysplasia in 1, wound infection in 1, and paroxysmal supraventricular tachycardia in 1. Nine of 13 patients with postoperative open sternum were recovered with delayed sternal closure, and seven of 10 patients survived postoperative ARF with peritoneal dialysis. There were 8 operative deaths(29.6%): 3 in the patients with simple complete TGA, 1 In TCA with COA, 1 in PA with IVS, 1 in Taussig-Bing anomaly with IAA, 1 in DIRV with TAPVC, and 1 in HLHS. One late death occurred after arterial switch operation in simple TGA. The mosts common cause of death was low cardiac output syndrome. Our initial experience of open heart surgery in neonates showed high operative mortality and morbidity, especially in complex anomalies.

• Clinical and Experimental Pediatrics
• /
• v.52 no.4
• /
• pp.464-470
• /
• 2009

Purpose : This study assessed the incidence and outcome of congenital anomalies of the kidney and urinary tract (CAKUT) detected by prenatal ultrasonography Methods : There were 906 cases of CAKUT detected by prenatal ultrasonography and postnatally confirmed at the Asan Medical Center from October 1989 to October 2007. We investigated the incidence and outcome of these cases by reviewing medical records retrospectively. Results : The order of incidence was hydronephrosis, multicystic dysplastic kidney (MCDK), duplex kidney, vesico-ureteral reflux (VUR), single kidney, hydroureteronephrosis, ectopic kidney, polycystic kidney, ureterocele, and posterior urethral valve (PUV). There were 520 cases (57.4%) of hydronephrosis, and 20% of these needed an operation due to significant obstruction. MCDK was associated with other CAKUT in 25.4% of all cases. Approximately 57.9% of duplex kidney cases needed surgical treatment due to ureterocele and VUR. VUR had a male: female ratio of 10:1. Two out of seven cases of autosomal recessive polycystic kidney had progressed to chronic renal failure. Patients with PUV were relatively uncommon, and one out of nine cases progressed to end-stage renal disease. Conclusion : CAKUTs detected by prenatal ultrasonography were composed of various anomalies, and almost all of them had a good outcome without any intervention. However, in some cases, recurrent urinary tract infection or renal failure occurred, especially in bilateral cases. For further management, a long-term multicenter study is needed to investigate the precise incidence and outcome of each anomaly in the general population.