• Childhood Kidney Diseases
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• 제1권1호
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• pp.53-59
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• 1997

목적 : 한쪽 신장이 완전히 기능이 없는 무형성신이나 거의 기능이 없는 다낭성이형성신 환아에서 하나 남은 신장마저 방광요관역류가 동반되어 손상되는 사례가 최근 많이 보고되고 있어 일측성 무형성신, 저형성신, 다낭성이형성신을 일측성 신발생 이상이라는 하나의 군으로 묶어 일측성 신발생 이상 반대측으로 방광요관역류가 잘 동반되는지를 조사하고자 하였다. 방법 : 1987년 1월 1일부터 1996년 12월 31일까지 세브란스 병원, 영동 세브란스 병원에서, 또 1994년 1월1일부터 1996년 12월 31일까지 아주대학 병원에서 일측성 무형성신, 저형성신, 다낭성이형성신으로 진단받은 96명의 소아를 대상으로 후향적 연구를 시행하였다. 진단은 방사선 소견에 근거하였으며, 96명의 대상 환아 중 48명의 환아가 배뇨성 방광요도조영술을 시행하였다. 결과 : 1. 일측성 신발생 이상을 가진 96명 환아군의 성별 분포는 남아가 58명으로 60%였고, 여아가 38명으로 40%였다. 2. 일측성 신발생 이상의 분포는 좌측이 45례로 47%였고, 우측이 51례로 53%였다. 3. 일측성 신발생 이상을 진단받게 된 동기를 보면 총 96례 중 산전 진단에 의한 경우가 41례로 가장 많았으며, 요로 감염의 검사 도중이나 다른 동반 기형의 평가 도중 발견된 경우가 각각 18례, 16례로 많았다. 질환별로 볼 때 일측성 무형성신이나 저형성신은 요로 감염의 검사 도중이나 다른 동반 기형의 평가 도중 발견된 경우가 많았으나 다낭성이형성신은 산전 진단으로 발견된 경우가 대부분이었다. 4. 배뇨성 방광요도조영술을 시행한 환아들의 경우 일측성 신발생 이상의 진단 연령은 $1.8{\pm}3.3$세였고, 배뇨성방광요도 조영술의 시행 연령은 $2.5{\pm}3.8$세로 통계적으로 유의한 격차가 있었다(P<0.01). 5. 일측성 무형성신으로 진단받은 18명의 환아 중 9명, 일측성 저형성신으로 진단받은 11명의 환아 중 5명, 일측성 다낭성이형성신으로 진단받은 19명의 환아 중 3명에서 반대측 방광요관역류가 있었다. 6. 방광요관역류가 있었던 환아들은 역류의 정도가 평균 3등급 이상으로 중등도 이상이었다. 반대측 방광요관역류가 있었던 17명의 환아 중 3명은 만성 신부전 상태에 있었고, 6명은 방광요관문합술을 시행받았다. 결론 :한쪽 신장의 기능이 없거나 거의 없다고 여겨지는 일측성 신발생 이상 환아에서 반대측 방광요관역류를 조기에 발견하기위해 선별적 검사로 배뇨성 방광요도조영술을 반드시 시행해야 한다고 결론지을 수 있었다.

• Tuberculosis and Respiratory Diseases
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• 제71권2호
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• pp.126-133
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• 2011

Unilateral pulmonary artery hypoplasia (UPAH) is a rare disease in adults and is frequently accompanied by a congenital cardiac anomaly at a young age. The diagnosis is usually based on computed tomography (CT), angiography, and magnetic resonance imaging (MRI). However, no reports are available on retrograde flow in patients with UPAH. We describe a 68-year-old man with isolated UPAH and retrograde blood flow. He was admitted for dyspnea on exertion for the past 23 years. His diagnosis was delayed, as his symptoms and signs mimicked his underlying pulmonary diseases, such as emphysema and previous tuberculous pleurisy sequelae. A discrepancy was detected between the results of a ventilation-perfusion scan and the CT image. This was resolved by MRI, which showed retrograde blood flow from the right to the left pulmonary artery. Using MRI, we diagnosed this patient with isolated pulmonary artery hypoplasia and retrograde flow.

• Journal of Genetic Medicine
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• 제13권1호
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• pp.31-35
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• 2016

Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to airway narrowing after birth. ABS is associated with mutations in the FGFR2 and POR genes. Patients with POR mutations present with either skeletal manifestations or congenital adrenal hyperplasia with ambiguous genitalia. We report here two cases of ABS caused by mutations in FGFR2 and POR. Although the patients had craniosynostosis and radiohumeral synostosis in common and cranioplasty was performed in both cases, the male with POR mutations showed an elevated level of $17{\alpha}$-hydroxyprogesterone during newborn screening and was diagnosed with congenital adrenal hyperplasia by adrenocorticotropic hormone stimulation. This patient has been treated with hydrocortisone and fludrocortisone. He had no ambiguous genitalia but had bilateral cryptorchidism. On the other hand, the female with the FGFR2 mutation showed severe clinical manifestations: upper airway narrowing leading to tracheostomy, kyphosis of the cervical spine, and coccyx deformity. ABS shows locus heterogeneity, and mutations in two different genes can cause similar craniofacial and skeletal phenotypes. Because the long-term outcomes and inheritance patterns of the disease differ markedly, depending on the causative mutation, early molecular genetic testing is helpful.

• 대한두경부종양학회지
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• 제33권2호
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• pp.71-73
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• 2017

Dysplastic epiglottis is extremely rare congenital malformation, which usually occurs in association with other laryngeal anomalies. Hypoplasia is the most common type in epiglottic malfomations. Other abnormalities include rudimentary, aplasia and bifid etc. Mostly, they are found in infancy and early childhood, and diagnosis at adulthood is extremely rare. A 69-year-old man with chronic cough and globus sense visited our clinic. Laryngoscopic findings revealed a unique form of epiglottis. He had no history of laryngeal trauma, tumors, head and neck surgery, and radiation. There was no another anomaly in the laryngo-pharynx. Because of a mass-like lesion at the apex of epiglottis, we performed the laryngeal microsurgery. The pathology revealed as granulation tissue. We report a rare and unique case of dysplastic epiglottis in elderly patient with a brief literature review.

• Journal of Chest Surgery
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• 제21권6호
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• pp.1124-1136
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• 1988

Massive hemoptysis, usually rapid flooding of tracheobronchial tree and asphyxia, is associated with high mortality. We have controlled massive hemoptysis in two cases with use of bronchial artery angiography & selective bronchial artery embolization with Gelfoam particle. One case was inoperable case that was confirmed as TOF c severe pulmonary artery hypoplasia with massive hemoptysis due to hypertrophied bronchial artery and its collaterals. Another case was congenital ASD with pulmonary Aspergillosis, postop. empyema and BPF associated with massive bleeding due to erosion of hypervascular bronchial artery. We experienced dramatic improvement of general condition and cessation of massive hemoptysis for above two cases. No other problems and complication were noted during postop. hospitalization and follow-up period.

• Journal of Korean Neurosurgical Society
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• 제58권1호
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• pp.79-82
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• 2015

Cleidocranial dysplasia is a well-documented rare autosomal dominant skeletal dysplasia characterized by hypoplastic/aplastic clavicles, brachycephalic skull, patent sutures and fontanelles, midface hypoplasia, and abnormalities of dentition. Patients with cleidocranial dysplasia often complain about undesirable esthetic appearance of their forehead and skull. Notwithstanding many studies of molecular, genetics and skeletal abnormalities of this congenial disorder, there have been very few written reports of cranioplasty involving cleidocranial dysplasia. Thus, we report a rare case of successful cranioplasty using a modified split calvarial graft technique in patient with cleidocranial dysplasia.

• Neonatal Medicine
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• 제16권1호
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• pp.81-84
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• 2009

저자들은 산전과 출생 초기에 시행한 두부 초음파에서 뇌실 확장과 뇌량 무형성증을 보여 조기에 진단된 분열뇌증을 동반한 중격 시신경 형성장애 신생아 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Journal of Chest Surgery
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• 제21권3호
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• pp.567-573
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• 1988

Coarctation of the aorta is classically a congenital narrowing of the upper descending thorac aorta adjacent to the site of attachment of the ductus arteriosus which is sufficiently severe that there is a pressure gradient across the area. Recently we have experienced two cases of coarctation of the aorta and successfully performed resection of the sites of coarctation and end to end anastomosis of the aorta. The first case was a juxtaductal type of coarctation of the aorta with PDA and the pathology of the lesion was a diaphragm with central narrow opening. And the resection length was about 0.5cm and aortic clamping time was 20 minutes. The second case was also juxtaductal type coarctation of the aorta with mild tubular hypoplasia of aortic isthmus, left SVC and the pathology was also a diaphragm with central narrow opening. And the resection length was about 0.5cm and aortic clamping time was 29 minutes. Both postoperative course was uneventful and the patients were discharged two weeks after operation.

• Journal of Chest Surgery
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• 제23권5호
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• pp.953-961
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• 1990

Congenitally corrected transposition of the great arteries is a rare congenital heart anomaly, in isolation, has no hemodynamic consequences. It is usually associated with one or more of a variety of intracardiac lesions, ventricular septal defect, valvular or subvalvular pulmonary stenosis, and deformity of the systemic atrioventricular valve with insufficiency. This report describes a successful two stage operation for congenitally corrected transposition, [SLL] type, with ventricular septal defect, pulmonary atresia, persistent ductus arteriosus, and atrial septal defect. A 9 years old patient underwent modified Blalock-Taussig operation because of severe pulmonary hypoplasia. 2 years later a corrective operation, direct closure of ASD and PDA, VSD closure with Dacron patch, Enlargement of left pulmonary artery with pericardial patch and Relief of ROTO with Rastelli procedure could be successfully performed without complication.

• 대한두개안면성형외과학회지
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• 제19권2호
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• pp.131-134
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• 2018

Treacher Collins syndrome is a congenital disorder that is characterized with a wide range of cranio-facial deformities. Zygomatic hypoplasia or aplasia is one of the key features, and surgical reconstruction of the consequent depression on the zygomatic area is deemed necessary by many patients. Various surgical options are available-injectables, alloplastic materials, autologous grafting, and autogenous tissue transfer. It depends on each patient which technique to use. Here, we present a clinical case, in which bilateral free groin flaps were adopted in attempt to resolve the remnant aesthetic deformity associated with zygomatic depression, despite a series of previous surgical efforts, in a 25-year-old Treacher Collins syndrome male patient.