• Journal of Chest Surgery
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• v.22 no.3
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• pp.514-517
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• 1989

Congenital esophageal stenosis is a rare disease in childhood. By virtue of its complex embryological development, the esophagus is the site of many congenital abnormalities. Congenital Esophageal stenosis is one tenth as rare as tracheoesophageal fistula with esophageal atresia and is very rare in the cervical esophagus, which mostly occurred below mid-esophagus. Congenital esophageal web may be caused by the resorption failure of the epithelium following the vacuolization stage in embryonic development in the esophagus. Recently, we experienced 1 cases of congenital esophageal web, as the symptoms of life-long dysphagia. According to her history of dysphagia, radiologic and clinical findings, her esophageal stenosis was considered as congenital. For dilatation and relief of dysphagia, she underwent the Heineke-Mikulicz type of esophagoplasty. The results of surgical treatment were relatively good without any clinical events. So we reported it with its literature review.

• Journal of Chest Surgery
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• v.18 no.2
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• pp.265-272
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• 1985

Congenital aneurysm of sinus of Valsalva is one of the rare congenital heart disease, which is usually asymptomatic until rupture. The aneurysm usually ruptures into a cardiac chamber and produces an aorto-intracardiac fistula. Ruptured aneurysm is a grave lesion in that it causes heart failure and subsequent death. If, however, it is discovered in its early stages and operated on properly, it can be corrected with considerable success. Form January 1975 through December 1984, 18 consecutive patients with congenital aneurysm of sinus of Valsalva underwent corrective surgery using total cardiopulmonary bypass in our department of Thoracic Surgery. 1. The incidence was about 0.9% of surgical cases of congenital heart disease during that period. 2. 13 were males and 5 females, with ages ranging 12 years to 52 years. 3. Associated anomalies were VSD in 14, infundibular PS in 1, aberrant muscle band in RVOT in 1, and secondary aortic insufficiency in 9. 4. 17 were suggested to arise from right coronary sinus and 1 from noncoronary sinus; Among 17, 12 ruptured into right ventricle, and one from noncoronary sinus into right atrium. 5. Surgical correction was performed by means of direct suture closure with combined pledget or patch graft after aneurysm resection, and associated lesions were also corrected simultaneously. 6. There was only one case of operative mortality, and all the other patients were relatively uneventful in their follow-up studies.

• Clinical and Experimental Pediatrics
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• v.46 no.3
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• pp.308-311
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• 2003

Congenital chloride diarrhea is a serious autosomal recessive disease, and defect of intestinal electrolyte absorption that involves, specifically, $Cl^-/{HCO_3}^-$ exchange in the distal part of the ileum and colon. The clinical feature is dominated by profuse, watery diarrhea containing high concentrations of chloride(>90 mmol/L) and sodium. The chloride loss results in severe dehydration with a hypochloremic alkalosis. The molecular pathology involves an epithelial $Cl^-/{HCO_3}^-$ exchanger protein. Mucosal ion transport is affected to differing degrees and the severity of the disease may thus vary. Recently, a gene defect on chromosome 7 has been identified. However, there was a deficit in replacement of fluid and electrolyte, abdominal distension remained and the character of stools was watery. We report a case of congenital chloride diarrhea in a premature female who presented with watery diarrhea containing high concentrations of chloride and abdominal distension.

• Clinical and Experimental Pediatrics
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• v.49 no.4
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• pp.446-450
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• 2006

Congenital central hypoventilation syndrome (CCHS) or Ondine's curse is a very rare sleep disorder that is the result of a congenital failure of the autonomic control of ventilation caused by insensitivity of the chemoreceptor to hypercapnea during sleep. Gastrointestinal motility disorders, particularly a congenital megacolon (Hirschsprung disease) is often combined with CCHS. This combination can be explained by a defect in the migration of neuronal cells from the neural crest (neurocristopathy) during the intrauterine period. A diagnosis of CCHS is made by confirming the failure of adequate ventilation in response to hypercapnea and hypoxia during sleep and the exclusion of other diseases. Young infants frequently show atypical clinical courses, and their conditions are frequently complicated with the long-term sequela of hypoxemic episodes. Therefore, a high index of suspicion and active treatment with mechanical ventilation are important for reducing recurrent hypoxemic episodes in the neonatal period. This paper reports the follow up of a case of CCHS in a neonate who showed frequent intractable apnea and cyanosis and was given artificial mechanical ventilation during sleep.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.1 no.1
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• pp.64-71
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• 2001

• Neonatal Medicine
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• v.25 no.4
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• pp.137-143
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• 2018

Purpose: This study was performed to determine the clinical features of full-term infants with hypoxemia detected by pulse oximetry and to establish the diagnosis of critical congenital heart disease (CCHD). Methods: We retrospectively reviewed the medical records of neonates who had been admitted to the neonatal intensive care unit within 2 weeks of birth at Korea University Ansan Hospital between January 2013 and October 2017 (n=450). We classified these neonates based on the presence of hypoxemia at admission and investigated neonatal characteristics, initial symptoms, echocardiographic findings, and final diagnosis associated with hypoxemic diseases. Results: Of 450 term infants, 265 infants (58.9%) were identified hypoxemia by pulse oximetry at admission. The most common symptoms of them were cyanosis and tachypnea. Among them, 80.1% of infants (214/265) were diagnosed with respiratory tract disease and 8.3% of infants (22/265) had congenital heart disease. Thirteen infants (13/265, 4.9%) had CCHD and were treated with urgent surgery or transcatheter intervention within 28 days of birth. Majority of infants with respiratory tract disorder were transferred from hospital immediately after birth, but 46.1% of infants (6/13) with CCHD remained asymptomatic after birth and were admitted after 48 hours after birth. In addition, other hypoxemic illnesses were identified as neonatal infectious and neurological diseases. Conclusion: This study showed the importance of assessment in neonates with hypoxemia, including those diagnosed with CCHD. The possibility of CCHD should be considered in the differential diagnosis in neonates demonstrating hypoxemia after 48 hours of birth. A larger prospective study is needed to assess the effectiveness and outcomes of pulse oximetry for neonatal screening in Korea.

• Journal of Chest Surgery
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• v.20 no.2
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• pp.270-280
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• 1987

One hundred thirteen cases of open heart surgery were performed in the department of thoracic and cardiovascular surgery of Inha General Hospital from April 1986 to April 1987. There were 73 cases of congenital heart disease and 40 cases of acquired valvular heart disease, including one redo case respectively. The technique of deep hypothermia with circulatory arrest was used widespreadly for infants and small children, and early extubation was performed as possible in the great number of all cases. There were three operative deaths [2.7%], all in congenital cases, and three follow-up deaths, all in acquired cases.

• Journal of Chest Surgery
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• v.27 no.7
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• pp.624-627
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• 1994

Congenital coronary arteriovenous fistula is a rare cardiac defect that causes coronary arterial flow to drain into the right cardiac chambers, the pulmonary artery, the coronary sinus, or the left cardiac chambers. The most frequently involved vessel is the right coronary artery. We experienced a case that had a coronary arteriovenous fistula associated with valvular heart disease. With the cardiopulmonary bypass done under hypothermia, mitral valve replacement was accomplished and the fistulas of both proximal and distal portions of the right coronary artery were closed with 3-0 prolene. Postoperative course was uneventful.

• Journal of Chest Surgery
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• v.18 no.4
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• pp.563-568
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• 1985

Two cases of situs inversus totalis with isolated congenital heart disease were treated at department of cardiothoracic surgery, Chungnam National University Hospital. Sixteen months old girl was operated under diagnosis of PDA with mirro-image dextrocardia by triple ligation. Fifteen months old girl was managed under diagnosis of VSD with mirro-image dextrocardia by simple closure of VSD with extracorporeal circulation. The former had smooth postoperative course, but the latter was died of asphyxia due to vomitus on postoperative second day

• Journal of Korean Neurosurgical Society
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• v.64 no.3
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• pp.380-385
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• 2021

Caudal agenesis refers to the congenital malformation with the essential feature of the agenesis of the sacrococcygeal bone. It is associated with various types of spinal cord anomaly as well as with complex anomalies of genitourinary or gastrointestinal system. The wide spectrum of the disease can be attributed to its pathoembryological origin, the secondary neurulation. This review presents the definition, etiology, classification, and clinical features of the disease.