• 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.6 no.1
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• pp.24-31
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• 2006

Purpose : The Ministry of Health and Social Affairs adopted newborn screening for the low-income families in 1991 and expanded in 1997 to cover all newborns. At the beginning of the program 6 diseases were selected for screening but the number of screening items had been reduced to two (congenital hypothyroidism and phenylketonuria) from the year 1995. Now, the government program has a fifteen year history. The purpose of this study was to analyze results of neonatal screening tests and prevalence at birth of phenylketonuria and congenital hypothyroidism in Korea. Methods : The results of neonatal screening tests were collected from public health centers during 15 years from 1991 to 2005. These data were analyzed for number of tested newborns and prevalence at birth of the inborn errors of metabolism. Results : Neonatal screening test for inborn error of metabolism was performed for 3,707,773 newborns for 15 years. Among newborns who were screened 718 congenital hypothyroidisms and 86 phenylketonurias were detected, and these presented an prevalence at bith of congenital hypothyroidism 1/5,164 and that of phenylketonuria 1/43,114. The total prevalence of two diseases was 1/4,612. Conclusion : National screening program should be expanded to include all items of screening tests for whole newborns and established correct prevalence of other inherited metabolic diseases in Korea.

• Journal of Chest Surgery
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• v.27 no.8
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• pp.700-704
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• 1994

Congenital coronary arteriovenous fistula is relatively rare congenital heart disease which has formation of fistula between coronary artery and cardiac ventricle, atrium, or pulmonary artery, but that can be repaired with simple surgical procedure. We experienced three cases of congenital coronary arteriovenous fistula, which were repaired surgically under cardiopulmonary bypass, so we report these cases with review of the literatures.

• 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.

• 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 the Korean Association of Oral and Maxillofacial Surgeons
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• v.38 no.3
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• pp.171-176
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• 2012

Congenital syngnathia refers to the fusion of bony tissues, a rare disorder with only 41 cases reported in the international literature from 1936 to 2009. The occurrence of syngnathia without any other associated systemic disease or congenital anomaly is extremely rare. This report presents a case of congenital syngnathia with unilateral maxillomandibular bony adhesion without any other oral or maxillofacial anomaly. No recommended protocol for surgery exists due to the rarity of the disorder. There is a very low survival rate for the few patients who have forgone surgical management. This case describes a 74-year-old female patient who was suffering from limitation of mouth opening and was subsequently diagnosed with congenital syngnathia. The surgical staff performed separation surgery and reconstructed the malformed oral vestibule and cheek using the radial forearm free flap operation.

• Journal of Chest Surgery
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• v.22 no.6
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• pp.1025-1035
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• 1989

Since we first performed open heart surgery on December 30, 1986, 126 cases were operated on up to August 31, 1989. Among the 126 cases, 65 cases were congenital heart disease of which 63 were acyanotic disease, and 61 cases were acquired heart disease, most of which were valvular heart disease. The age distribution of congenital heart disease was from 1 years 2 months to 48 years, and males had a slightly higher incidence. The age of acquired heart disease was from a minimum of 15 years to a maximum of 68 years, and the male to female ratio was 1;1.5. Midsternotomy was performed in all cases, and the aortic cannula was inserted through ascending aorta and the venous cannula inserted into the SVC and IVC through the right atrium. Vent was inserted through the right superior pulmonary vein. Cardioplegia solution was used in all cases; it was composed of sodium bicarbonate 3.5 ampule, KCL 14 mEq, 2% lidocaine 2.5 ml, 20 % albumin 50 ml and heparin 1000 units mixed to 950 ml with Hartman solution, and was made to 4oC and infused 10 ml per Kg every 20 minutes. The congenital heart disease had a variety of VSD in 32 cases, ASD 23 cases, PS 6 cases, PDA 2 cases, and one case each of Ebsteins anomaly and tricuspid atresia. The operations performed for acquired heart disease were 4 cases of OMC, 33 cases of MVR, and 5 cases of AVR, and 1 case of AVR with CABG. DVR was perfomed in 13 cases, and triple valve replacement was done in 1 case. Other than these, excision of LA myxoma was 2 cases, and repair of traumatic VSD and removal of a pulmonary embolism were one case each. The surgical mortality was 5 cases[4%], all of which occurred in valve replacement cases. Follow-up study revealed 2 late deaths. One died after a traffic accident and one died due to sepsis after he had received a gastrectomy for ulcer bleeding. The remaining patients were in good condition.

• Journal of Chest Surgery
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• v.33 no.8
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• pp.684-687
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• 2000

Congenital bronchobiliary fistual is a rare disease with unclear etiology. An abnormal tract communicates the tracheobronchial junction to a hepatic segment, usually the left lobe. Billous sputum, a positive HIDA(o-Dimethyliminodiacetic acid) scan, and a trification at the level of the carina lead to the diagnosis, which can be confirmed by bronchoscopic contrast injection. We experienced a case of congenital bronchobiliary fistual in a 27-day-old girl. Our case is reported with literature reviews.

• 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.