• Childhood Kidney Diseases
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• v.1 no.1
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• pp.53-59
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• 1997

There have been many recent reports that unilateral renal agenesis and multicystic dysplastic kidneys are accompanied by contralateral vesicoureteral reflux leading to its injury. We grouped the children with unilateral renal agenesis, renal hypoplasia, multicystic dysplastic kidney into abnormal unilateral renal development and investigated whether it was accompanied with contralateral vesicoureteral reflux. We retrospectively reviewed 96 pediatric cases of unilateral renal agenesis, hypoplasia, multicystic dysplastic kidney diagnosed at Shinchon Severance Hospital, Yongdong Severance Hospital from 1987 to 1996 and Ajou University Hospital from 1994 to 1996. Diagnosis was based on radiological findings, renal hypoplasia being defined as small renal size with no apparent renal scarring and no irregularity of the calyceopelvic system on abdominal sonography or intravenous pyelography. Among the 96 cases,48 cases carried out voiding cystourethrography. 58 cases were male(60%) and 38 cases were female(40%). The cases of abnormal unilateral development on the left side were 45(47%) and that on the right side were 51(53%). Although there were diverse reasons leading to diagnosis, the major ones included were prenatal sonography, urinary tract infection, and other congenital anomalies. In cases of unilateral renal agenesis & hypoplasia the leading factors were urinary tract infection & other congenital anomalies and in cases of multicystic dysplastic kidney that was prenatal sonography. There was a chronological gap between the mean age of diagnosis(1.8 year) and voiding cystouerthrography(2.5 year, P < 0.01). 9 of the 18 unilateral renal agenesis cases, 5 of the 11 unilateral renal hypoplasia cases, and 3 of the 19 unilateral multicystic dysplastic kidney cases showed contralateral vesicoureteral reflux. Average reflux grade was above G III.Among the 17 children who had contralateral vesicoureteral reflux, 3 children had chronic renal failure and ureteroneocystostomy was carried out in 6 children. From the above results we conclude that screening voiding cystourethrography should be performed in children with abnormal unilateral renal development for early detection of vesicoureteral reflux in the contralateral kidney.

• Tuberculosis and Respiratory Diseases
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• v.71 no.2
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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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• v.13 no.1
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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.

• Korean Journal of Head & Neck Oncology
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• v.33 no.2
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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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• v.21 no.6
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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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• v.58 no.1
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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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• v.16 no.1
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• pp.81-84
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• 2009

Septo-optic dysplasia is a rare congenital disorder characterized by the absence of the septum pallucidum, hypoplasia of the optic chiasma and nerves, and various types of hypothalamic-pituitary dysfunction. Schizencephaly is an abnormal cleft in the brain, lined with gray matter which may communicate with the ventricular system. Septo-optic dysplasia with schizencephaly is associated with endocrinologic disorders, visual impairment, mental retardation, and seizures. We report a case of septo-optic dysplasia with schizencephaly which was diagnosed in the early neonatal period.

• Journal of Chest Surgery
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• v.21 no.3
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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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• v.23 no.5
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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.

• Archives of Craniofacial Surgery
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• v.19 no.2
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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.