• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.1-4
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• 2016

Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6 ), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 consecutive generations and describe the detailed ophthalmologic findings for one of these members. As expected, mutational analysis revealed a nonsense mutation (p.Ser122*) in the PAX6 gene. Thus, our findings reiterate the importance of PAX6 mutations in congenital aniridia.

• Journal of Chest Surgery
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• v.25 no.7
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• pp.702-706
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• 1992

Abnormalities of ventral foregut budding have been classified as "Bronchopulmonary Foregut Malformation[BPFM]". Two cases of this unusual malformation are presented. The first case was that of a 48-year-old male with a history of hemoptysis and fever. He had intralobar sequestration, located in the right lower lobe and the posterior segment of the right upper lobe, communicated with the lower esophageal fistula. The sequestrated lobe received its blood supply from anormalous feeding artery from the descending thoracic aorta. The second case was that of a 42-year-old woman with intralobar sequestration that communicated with the lower esophagus. The intralobar sequestration was located in the superior segment of the right lower lobe, and in this case, the abnormal feeding artery could not be found. In both cases, there were no other combined congenital anomalies. They were managed with surgical resection successfully and followed up without any significant complications.lications.

• Journal of Chest Surgery
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• v.43 no.4
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• pp.450-453
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• 2010

CCAM with no other anomalies such as sequestration receives its blood supply from the pulmonary artery. Our case presented with a simple CCAM and no other anomalies but with a feeding artery. Although preoperative evaluation may not show feeding arteries, they may exist in congenital cystic lung diseases.

• Journal of Chest Surgery
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• v.24 no.3
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• pp.292-295
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• 1991

Pulmonary sequestration is a rare congenital malformation of the lung and occasionally accompanied with upper gastrointestinal anomalies. Based on the embryologic development, they are grouped as broncho-pulmonary foregut malformation. We present one the case of the intralobar pulmonary sequestration with gastric duplication. The sequestrated pulmonary tissue was 9x7x8cm in dimension, multiseptated and multiloculated, and supplied by a systemic artery of 7mm diameter from the abdominal aorta. The gastric duplication was 8cm in diameter located at the posterior wall of the stomach without communication with the gastric lumen.

• Tuberculosis and Respiratory Diseases
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• v.42 no.5
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• pp.767-771
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• 1995

The bronchial artery-pulmonary vein malformation should be called the systemic artery-to-pulmonary vein arterioveonus malformation in the lung. Although pulmonary arteriovenous malformation has been well documented in intrapulmonary arteriovenous malformation, the systemic artery-to-pulmonary vein arteriovenous malformation is rare. Most patients with systemic artery-to-pulmonary vein arteriovenous malformation is asymptomatic and the diagnosis of these anomaly may be done by continuous murmur or abnormal chest X-ray on the physical examination. The pathogenesis of this condition is congenital malformation which explains these anastomoses between the pulmonary vein and accessory brachial arteries and acquired malformation which explains development of new blood vessel to supply large enough to cause significant systemic-pulmonary shunts due to inflammation secondary to infection, trauma, or previous surgery. We experienced a case of the bronchial artery-pulmonary vein malformation which was detected on angiography in 20-year-old women whose chief complain is hemoptysis. This massive hemoptysis was controlled by selective brachial artery embolization with Gelfoam and Ivalon particles.

• Tuberculosis and Respiratory Diseases
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• v.72 no.6
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• pp.501-506
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• 2012

Congenital cystic adenomatoid malformation (CCAM) is an uncommon, nonhereditary anomaly caused by arrest of lung. Patients with CCAM may present with respiratory distress as newborns, or may remain asymptomatic until later in life. CCAM type I is rarely found in association with bronchial atresia (BA) in adults; we present such a case. Case: A 54-year-old female presented with chronic cough and blood-tinged sputum. Physical examination and laboratory tests were unremarkable. Chest radiographs and a CT scan of the chest showed multiple large air-filled cysts consistent with a CCAM in the right lower lobe, and an oval-shaped opacity in the distal right middle lobal bronchus. Based on the radiologic findings, right middle lobectomy and a medial basal segmentectomy of the right lower lobe were performed via a thoracotomy. These lesions were consistent with Stocker's Type I CCAM and BA in the different lobes.

• Tuberculosis and Respiratory Diseases
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• v.66 no.5
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• pp.385-389
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• 2009

Congenital cystic adenomatoid malformation (CCAM), which is classified into five types according to size and bronchial invasion, is a rare type of developmental anomaly of the lung. CCAM is occasionally accompanied by malignancy, such as bronchioloalveolar carcinoma (BAC) or rhabdomyosarcoma. As defined by the WHO, atypical adenomatous hyperplasia (AAH) is a non-invasive spread of atypical epithelial cells in single rows along the alveolar wall, within a lesion that is usually less than 5 mm in diameter. AAH was also regarded as a pre-invasive neoplasia, especially associated with BAC and adenocarcinoma. We report a case of type II CCAM with AAH in adults, with a review of the references.

• Journal of Chest Surgery
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• v.47 no.1
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• pp.32-34
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• 2014

Anomalous aortic origin of the left subclavian artery (LSCA) from the left pulmonary artery (LPA) is a rare congenital cardiac malformation. We describe a case of LSCA from the LPA via ductus arteriosus in association with a double-outlet right ventricle, which never has been reported previously in Korea.

• Proceedings of the Korean Society of Veterinary Clinics Conference
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• 2009.10a
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• pp.256-256
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• 2009

• 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.