• Childhood Kidney Diseases
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• 제1권1호
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• pp.67-72
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• 1997

목적 : 소아요로계 기형은 요로 감염의 주원인이며 발견시 비가역적인 신손상으로 만성 신부전과 고혈압의 원인이 되므로 조기 진단과 적절한 치료가 필수적이다. 이에 저자들은 요로계 전반의 선천성 기형의 발생양상을 알아보고자 본 연구를 시행하였다. 방법 : 1986년 1월부터 1996년 12월까지 전북대학병원 소아과에 입원한 환자중 방사선적인 검사상 요로계 기형이 발견된 124명을 대상으로 기형의 종류와 빈도, 동반기형, 임상증상, 요로감염의 동반유무, 치료방법 등에 관하여 임상기록을 토대로 조사하였다. 결과 : 1)연령분포는 1세 미만이 61명(49%)으로 가장 많았고 다음은 4-6세가 20명(16%)으로 많았다. 성별 빈도는 남아가 여아보다 2배정도 더 많았다. 2) 주증상은 발열이 가장 많았고 측복통, 산전진찰로 진단된 수신증, 복부종괴, 배뇨통, 빈뇨, 혈뇨등의 순이었다. 3) 요로계 기형은 방광 요관 역류가 가장 많았고 신우 요관 이행부 협착, 특발성 수신증, 중복 요로계, 거대요관 등의 순이었고 이중 85례에서 수신증이 동반되었다. 4) 단순기형은 109명(87%),복합기형은 15명(12%)으로 단순기형이 더 많았다. 5) 전체 124명중 68명(54.8%)에서 배양 검사에서 증명된 요로감염으로 104회 입원하였고 이때 동반된 기형으로는 방광요관 역류가 가장 많았으며 원인균은 E.coli(70%)가 가장 많았다. 6) 수술적 교정을 시행한 경우는 124명중 46명이었으며 이중 신우요관 이행부 헙착이 가장 많았다. 만성 신부전으로 진행한 경우는 7명이었고 후부 요도 판막에 의한 신부전 1명에서 신장이식을 시행하였다. 결론 : 소아에서 요로기형은 조기 진단과 적절한 치료를 시행하고 지속적인 추적관찰을 함으로써 심각한 합병증을 예방할수 있을 것으로 생각되며 향후 요로계 기형에 대한 더 많은 연구가 진행되어야 될 것으로 생각된다.

• Journal of Chest Surgery
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• 제23권4호
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• pp.698-706
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• 1990

Congenital Cystic Lung Disease is a spectrum of closed related anomalies that arise during an early stage of embryonic lung bud maturation-namely bronchogenic cyst, congenital lobar emphysema, pulmonary sequestration and congenital cystic adenomatoid malformation. And they show similar surgical strategies. So they are called as the term bronchopulmonary-foregut malformations, firstly proposed by Gerle[1968]. From Aug. 1979 to Aug 1989, 47 patients were operated upon on Dept. of Thoracic & Cardiovascular Surgery at the CUMC. There were 21 females and 26 males ranging in age from age of 21 day to age of 56 year [15 cases under 15 years old]. 30 patients had bronchogenic cysts - 23 of intrapulmonary type, 7 of mediastinal type in location. Affected lobes and locations were as follows: 11 in upper lobe, 3 in middle lobe, 11 in lower lobe and anterosuperior, middle, and posterior mediastinal type were 3, 2, 2 respectively. There were 9 pulmonary sequestrations[all intralobar type] with the distribution of 5 in right lower lobe and 4 in left lower lobe. And associated anomalies were presented with arterial supply originating from thoracic aorta[8 cases], abdominal aorta[1 case] and with venous drainage into azygos vein[1 case]. They all were operated upon lower lobectomy [8 case], pneumonectomy[1 case] in case of pulmonary hypoplasia Congenital lobar emphysema and congenital cystic adenomatoid malformation had 4 cases respectively. Their affected lobes were as follows: the former were 3 in upper lobes, 1 in middle lobe and the latter were 3 in upper lobe, 1 in lower lobe. They were treated with lobectomy and segmentectomy. Diagnosis was aided by chest X - ray, bronchography, aortography, DSA and CT scan, They all were confirmed by pathologic exams. There were no hospital death but few minor morbidities such as, atelectasis-pneumonia[2], wound infection[2], prolonged chest tube placement[2]. We experienced surgical treatments of 47 cases for 10 years and reported them with literature review.

• Journal of Chest Surgery
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• 제13권4호
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• pp.448-454
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• 1980

The juxtaposition of atrial appendage may possibly be diagnosed by angiography recently, and it is widely regarded as an ominous sign of severe cyanotic congenital heart disease. However, it is apparently rare congenital cardiac anomaly in which the atrial appendages lie side by side, both to the left or right of the great arteries, known as left or right juxtaposition of the atrial appendages. Juxtaposition of the atrial appendages has no functional significance, since it does not, itself, cause any hemodynamic disturbance. But it`s presence always indicates the coexistence of other major cardiac anomalies. In review of literatures TGA and VSD are invariable present, and ASD is common. Other anomalies, such as, tricuspid atresia, pulmonary outflow that, obstruction bicuspid pulmonic valve, persistent SVC etc. are relatively high incidence. In this report, we present one case of 6 year old female child having left juxtaposition of atrial appendage combined with TGA [D-looping, D-transposition], TAPVD, large ASD, small VSD, and vertical vein.

• Journal of Chest Surgery
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• 제18권1호
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• pp.62-68
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• 1985

10 patients with mitral regurgitation associated with various congenital cardiac anomalies were treated by reconstructive techniques in the Department of Thoracic and Cardiovascular Surgery, Hanyang University Hospital during the period of 2 years from 1982 to 1984. There were mitral valvular cleft in one case, chordae tendineae rupture associated with congenital multiple cardiac-anomalies [VSD, PDA, prolapse of aortic non-coronary cusp through VSD] in one case, elongated chordae tendineae after removal of left atrial myxoma in one case, and mitral annular dilatation associated with VSD in 3 cases, large PDA in 2 cases, aortic regurgitation [bicuspid valve] in one case, and unknown origin in one case. Owing to the various pathology above mentioned, reconstructive surgical approach to mitral incompetence is accordingly complicated and a combination of the following different procedures were properly used case by case, that is, suture of chordae tendineae, shortening of elongated chordae tendineae, closure of VSD, ligation of PDA, aortic valvuloplasty, mitral annuloplasty with mattress suture, etc. All patients were survived and they have been excellent postoperative results.

• Clinical and Experimental Pediatrics
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• 제46권3호
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• pp.291-294
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• 2003

21번 환 염색체는 심한 기형에서부터 정상에 이르기까지 다양한 표현형을 보인다. 저자들은 발달 지연과 다발성 선천성 기형을 가진 환자에서 말초혈액 염색체 검사상 21번 염색체 장완의 결실이 동반된 21번 환 염색체를 경험하였기에 이에 문헌 고찰과 함께 보고하는 바이다.

• Journal of Genetic Medicine
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• 제5권1호
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• pp.1-6
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• 2008

Knowledge of developmental biology is essential for clinicians who seek to develop a rational approach to the diagnostic evaluation of patients with birth defects. After an accurate diagnosis, a clinician can make predictions about prognosis, recommend management options, and provide an indication of recurrence risk for the parents and relatives. In this paper, we first review the basic mechanisms of embryological development and clinical dysmorphology. We then review cellular and molecular mechanisms in development and related congenital anomalies. Developmental anomalies have a major impact on public health. Genetic counseling and prenatal diagnosis, with the option to continue or to terminate a pregnancy, are important for helping families faced with the risk of a serious congenital anomaly in their offspring. Moreover, primary prevention of birth defects, for example, supplementation of prenatal folic acid and prevention of consumption of alcohol which has teratogenic effects, can be accomplished using developmental biology knowledge.

• Neonatal Medicine
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• 제28권1호
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• pp.48-52
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• 2021

Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by skin defects involving the epidermis, dermis, subcutaneous tissue, bone, and sometimes dura. It commonly affects the scalp in approximately 70% of cases, but the neck, trunk, and the extremities can also be affected. ACC can occur either as an isolated condition or associated with other anomalies and congenital syndromes, and it can be acquired either genetically or sporadically. Morbidity and mortality are associated with the defects of skull bone, dura, and other multiple anomalies. We herein report the case of a female infant, with a large scalp defect accompanied by a skull defect noted at birth, who developed mental retardation in the preschool years.

• Advances in pediatric surgery
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• 제13권1호
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• pp.37-44
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• 2007

A vitelline duct (VD) anomaly is a relatively common congenital abnormality of the umbilical area. The anomalies include patent vitelline duct (PVD), cyst, fistula or sinus. The incidence is approximately 2% of the populations, but development of symptoms is rare. Recently, we experienced two cases; PVD accompanied by a small omphalocele and intestinal volvulus due to mesenteric band between Meckel's diverticulum and the mesentery. Thereafter,we evaluated the data of vitelline duct anomalies for 27 years. From 1980 to 2006, 18 cases of VD anomalies were reviewed based on the hospital records retrospectively. There were 15 boys and 3 girls and age ranged from 2 days to 15 years. Among the 18 cases, 15 cases were symptomatic and consisted of Meckel's diverticulum (10 cases), PVD (4 cases) and umbilical polyp (1 case). Three asymptomatic cases of Meckel's diverticulum were found incidentally were and were observed without resection. Ten cases of Meckel's diverticulum were presented with intestinal bleedings (4 cases), intestinal obstructions (5 cases) and perforation (1 case). Wedge resections and segmental resections of ileum were performed in 8 patients and 2 patients, respectively. Postoperative complications were adhesive ileus (1 case) and wound seroma (1 case). Small omphaloceles were accompanied in two of 4 PVD patients. There was 1 small omphalocele case which was accompanied by a prolapse of ileum. In summary, VD anomalies were more common in male and more than half of them were found in patients less than 1 year of age. PVD was diagnosed most frequently in neonates. Meckel's diverticulum presented with intestinal obstruction more frequently than bleeding.

• Journal of Chest Surgery
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• 제19권2호
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• pp.280-287
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• 1986

Between March 1978 and August 1985, 29 cases at various congenital heart diseases were reoperated because of remnant shunt of residual anomalies at Seoul National University Hospital. They were consisted of 10 cases of Tetralogy, 4 simple VSD, 6 complicated VSD. 3 partial ECD, and 5 other rare congenital anomalies. The interval between the initial and the second procedure ranged from 1 day to 122 months [mean; 26.9 months]. In 4 cases of them, the second procedure was done during initial hospitalization within 3 weeks post-operatively. The primary operation intended to be corrective surgery except four whose primary operation was palliative or exploratory one even though it was done with extracorporeal circulation. The indication for second operation was mainly residual shunt or valvular obstruction due to patch detachment or inadequate relief of stenotic lesion. Others were paravalvular leak, valvuloplasty failure, prosthetic valve failure, and inadequate primary diagnosis. Four patients were dead [14.3%]; three complicated VSD`s and one Tetralogy. There were 7 cases of nonfatal complication with subsequent improvement except one [diffuse cerebral dysfunction].

• Journal of Korean Neurosurgical Society
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• 제49권3호
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• pp.178-181
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• 2011

Congenital anomalies in arches of the atlas are rare, and are usually discovered incidentally. However, a very rare subgroup of patients with unique radiographic features is predisposed to transient quadriparesis after minor cervical or head trauma, A 46-year-old male presented with a 2-month history of tremor and hyperesthesia of the lower extremities after experiencing a minor head trauma. He said that he had been quadriplegic for about 2 weeks after that trauma. Radiographs of his cervical spine revealed bilateral bony defects of the lateral aspects of the posterior arch of C1 and a midline cleft within the anterior arch of the atlas. A magnetic resonance imaging revealed an increased cord signal at the C2 level on the T2-weighted sagittal image. A posterior, suboccipital midline approach for excision of the remnant posterior tubercle was performed. The patient showed significant improvement of his motor and sensory functions. Since major neurologic deficits can be produced by a minor trauma, it is crucial to recognize this anomaly.