• Journal of Korean Neurosurgical Society
• /
• 제55권3호
• /
• pp.156-159
• /
• 2014

Coarctation and occlusion of the aorta is a rare condition that typically presents with hypertension or cardiac failure. However, neuropathy or myelopathy may be the presenting features of the condition when an intraspinal subarachnoid hemorrhage has compressed the spinal cord causing ischemia. We report two cases of middle-aged males who developed acute non-traumatic paraplegia. Undiagnosed congenital abnormalities, such as aortic coarctation and occlusion, should be considered for patients presenting with nontraumatic paraplegia in the absence of other identifiable causes. Our cases suggest that spinal cord ischemia resulting from acute spinal subarachnoid hemorrhage and can cause paraplegia, and that clinicians must carefully examine patients presenting with nontraumatic paraplegia because misdiagnosis can delay initiation of the appropriate treatment.

• Clinical and Experimental Pediatrics
• /
• 제46권1호
• /
• pp.86-90
• /
• 2003

Alagille 증후군은 간내 담도 형성 부전으로 인한 만성 담즙 정체, 말초 폐동맥 협착, 골격 이상, 눈의 이상, 특징적인 얼굴 모양 등을 주요 증상으로 하는 상염색체 우성 유전 질환으로 말초 폐동맥 협착 이외에도 여러 말초 혈관 병변들이 동반된다. 관련된 유전자로 20번 염색체 위에 존재하는 JAG1이 발견되었고, 이 유전자의 결손으로 인한 Notch 신호전달체계의 결함이 혈관형성에 영향을 미친다고 생각되고 있다. Alagille 증후군에서 만성 뇌동맥 폐색질환인 moyamoya병이 발생한 예들이 보고된 바 있는데, Alagille 증후군의 혈관병증의 또 다른 한 발현으로 이해되어야 할 것이다. 저자들은 생후 2개월에 Alagille 증후군을 진단받고 추적 관찰 중에 갑자기 편측 마비가 발생하여 뇌혈관 조영술을 통해 moyamoya병을 진단받은 25개월 여아를 경험하였기에 이를 보고하는 바이다.

• Journal of Chest Surgery
• /
• 제17권3호
• /
• pp.362-370
• /
• 1984

The term corrected transposition of great arteries [hereafter referred to as corrected TGA] of the heart in which there is both a discordant atrio-ventricular relationship and transposition of the great vessels. Usually situs solitus is present, while the ventricles are inverted showing an l -loop. The great vessels are transposed and in the l-position so that the pulmonary artery arises from the right-sided morphological left ventricle and the anteriorly l- transposed aorta arises from the left-sided morphological right ventricle yielding an SLL pattern. In the majority of cases, associated lesions are common. The most frequent are ventricular septal defect, obstruction to the pulmonary outflow tract, tricuspid valve incompetence and atrio-ventricular conduction abnormalities. In the rare cases, no associated conditions are present and hemodynamic pathways are normal. In the report, we present one case of a 20 year-old male having corrected TGA associated with severe tricuspid valve incompetence, was corrected by tricuspid valve replacement, directly developed a supra-ventricular tachycardia but was controlled by calcium-entry blocker, verapamil, successfully.

• Journal of Korean Neurosurgical Society
• /
• 제50권3호
• /
• pp.256-259
• /
• 2011

We report a rare case of Williams syndrome accompanying moyamoya disease in whom postoperative global cerebral infarction occurred unpredictably. Williams syndrome is an uncommon hereditary disorder associated with the connective tissue abnormalities and cardiovascular disease. To our knowledge, our case report is the second case of Williams syndrome accompanying moyamoya disease. A 9-year-old boy was presented with right hemiparesis after second operation for coarctation of aorta. He was diagnosed as having Williams syndrome at the age of 1 year. Brain MRI showed left cerebral cortical infarction, and angiography showed severe stenosis of bilateral internal carotid arteries and moyamoya vessels. To reduce the risk of furthermore cerebral infarction, we performed indirect anastomosis successfully. Postoperatively, the patient recovered well, but at postoperative third day, without any unusual predictive abnormal findings the patient's pupils were suddenly dilated. Brain CT showed the global cerebral infarction. Despite of vigorous treatment, the patient was not recovered and fell in brain death one week later. We suggest that in this kind of labile patient with Williams syndrome accompanying moyamoya disease, postoperative sedation should be done with more thorough strict patient monitoring than usual moyamoya patients. Also, we should decide the revascularization surgery more cautiously than usual moyamoya disease. The possibility of unpredictable postoperative ischemic complication should be kept in mind.

• Investigative Magnetic Resonance Imaging
• /
• 제23권3호
• /
• pp.276-278
• /
• 2019

The cisterna chyli, a dilated lymphatic sac in the retrocrural space, is usually located to the right of the aorta. We report a case of a left-sided cisterna chyli, which was incidentally detected on the radiologic examinations of a preoperative workup for cholangiocarcinoma. Computed tomography (CT) and magnetic resonance (MR) images revealed a cisterna chyli measuring 2.5 cm in length in the left retrocrural space. The dilated lumbar lymphatics joined with the cisterna chyli, which was continuous with the left-sided thoracic duct. To the best of our knowledge, this is the second antemortem case of a left-sided cisterna chyli in literature. The cisterna chyli can mimic retrocrural lymphadenopathy, solid tumor with cystic degeneration, abscess or hematoma. The left-sided cisterna chyli should be referred to as a structure so as to be cautious in surgical approach.

• Journal of Chest Surgery
• /
• 제42권5호
• /
• pp.639-644
• /
• 2009

대동맥 동맥류/대동맥 박리증, 두눈먼거리증, 목젖갈림증/입천장갈림증, 그리고 동맥혈관계의 이상과다 뒤틀림 등을 독특한 표현형으로 하는 Loeys-Dietz 증후군은 새로이 기술된 공격적 성향의 결체 조직 질환으로, transforming growth factor-$\beta$ receptor type 1 또는 type 2를 encoding 하는 유전자 돌연 변이가 발병 원인이다. Loeys-Dietz 증후군은 Marfan 증후군, Ehlers-Danlos 증후군 4형 등의 표현형과 일부 비슷한 형태를 공유한다. 그러나, Loeys-Dietz 증후군은 다른 질환보다 더 심한 병태생리적 특성을 가지고 있기 때문에, 임상의들은 이들 결체 조직 질환들을 감별하여야 한다. 강한 의심, 조기 진단, 예방적 수술, 그리고 지속적 영상 검사가 적절한 Loeys-Dietz 증후군 치료를 위해 실행되어야 한다. 저자들은 대동맥 파열, 목젖갈림증, 그리고 두눈먼거리증의 3징후를 가진 Loeys-Dietz 증후군의 환자를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Journal of Chest Surgery
• /
• 제16권2호
• /
• pp.170-174
• /
• 1983

Aortic arch syndrome is an unusual disease entity characterized by the narrowing or obliteration of major branches of the arch of the aorta regardless of etiology. We have experienced 2 cases. One of them was 22 years old office girl with 3 months history of headache, intermittent syncope and weakness and claudication on left arm especially during her physical exercise. On physical examination, pulseless on left antecubital and radial artery and blood pressure on left arm was inable to check and coldness with weakness were noted on the same side. Aortic angiography reealed 34% narrowing of left subclavian artery as that of right. But both common carotid artery and both axillary arterial patency were relatively good. Through right supraclavicular and left axillary incision, bypass graft with Gore-tex prosthesis (I.D. 6mm, Length 25 cm) was implanted from right subclavian artery on 2cm distal to origin of right common carotid arery to left axillary artery distal to axillary fossa. End to side anastomosis with preservation of left subclavian artery was done. Postoperative state was stable with blood pressure of 110/70 mmHg on left arm and palpable antecubital and radial pulsation. Another one was 41 year old male patient with 8 months history of pain and numbness on right upper arm and shoulder. On admission, right arm blood pressure was 110/80 mmHg, left arm was 160/110 mmHg, but other physical findings had no abnormalities. Angiography revealed segmental narrowing of right axillary artery on the beginning with 2 cm in length. Operative treatment with right wupraclavicular and right axillary incision, bypass graft with great saphenous vein (Length; 15 cm) from right subclavian artery between scalenus anticus and medius to axillary artery at distal end of axillary fossa was done. The authors report two cases of Aortic arch syndrome treated with bypass graft using Autograft or Gore-tex with good result.

• Tuberculosis and Respiratory Diseases
• /
• 제39권6호
• /
• pp.548-553
• /
• 1992

저자들은 최근 시작된 수차례의 객혈을 주소로 본원에 입원한 39세 남자 환자에서 좌측 폐동맥 형성부전증으로 확진하였기에 문헌 고찰과 함께 보고하는 바이다.

• Journal of Genetic Medicine
• /
• 제18권2호
• /
• pp.142-146
• /
• 2021

Alagille syndrome (AGS) is a rare autosomal dominant inherited disorder, with major clinical manifestations of bile duct paucity, cholestasis, cardiovascular anomaly, ophthalmic abnormalities, butterfly vertebrae, and dysmorphic facial appearance. It is caused by heterozygous mutations in JAG1 or NOTCH of the Notch signaling pathway presenting with variable phenotypic penetrance and involving multiple organ systems. The following case report describes a unique case of a 16-year-old female with AGS who presented with the primary complaint of renovascular hypertension. She had a medical history of ventricular septal defect and polycystic ovary syndrome. The patient had a dysmorphic facial appearance including frontal bossing, bulbous tip of the nose, a pointed chin with prognathism, and deeply set eyes with mild hypertelorism. Stenoocclusive changes of both renal arteries, celiac artery, lower part of the abdominal aorta, and left intracranial artery, along with absence of the left internal carotid artery were found on examination. Whole exome sequencing was performed and revealed a pathologic mutation of JAG1, leading to the diagnosis of AGS. Reverse phenotyping detected butterfly vertebrae and normal structure and function of the liver and gallbladder. While the representative symptom of AGS in most scenarios is a hepatic problem, in this case, the presenting clinical features were the vascular anomalies. Clinical manifestations of AGS are diverse, and this case demonstrates that renovascular hypertension might be in some cases a presenting symptom of AGS.

• 한국수정란이식학회:학술대회논문집
• /
• 한국수정란이식학회 2002년도 국제심포지엄
• /
• pp.109-109
• /
• 2002

In recent reports, the multiple reproductive defects such as cryptorchidism, hypospadias, epididymal cysts, low sperm counts, and testicular cancers are increased in humans, and these changes were doubted by the chemicals with estrogenic or antiandrogenic activities in our environment. To compare the effects of neonatal exposure of di (n-butyl) phthalate and flutamide on the development of reproductive organs and to identify the specific mechanisms of these abnormalities related to the male reproducton, Sprague-Dawley neonate male rats were injected subcutaneously during 5-14 days after birth with corn oil (control), flutamide (0.05, 0.1, and 0.5 mg/animal) and DBP (5, 10, and 20 mg/animal). Animals were killed at 31 (immature) and 42 (pubertal) days of age respectively and blood was collected from abdominal aorta for serum testosterone analysis. Testes, epididymides, seminal vesicles, ventral prostate, levator ani plus bulbocavernosus muscle (LABC), cowpers glands and glans penis were weighed. Expression of steroid hormone receptors (AR and ER) was examined in the testes and ventral prostate. At 31 days of age, ventral prostate, seminal vesicles, LABC, and cowpers glands significantly decreased in the flutamide (0.5 mg/animal) and DBP (20 mg/animal), but serum testosterone levels were not changed. Flutamide slightly delayed the testes descent at the high dose (0.5 mg/animal), but DBP did not show any significant effect on the testes descent at all doses. DBP and flutamide decreased the expression of AR protein in the testes but did not affect the expression of ERa and ER protein in the testes. At 42 days of age, ventral prostate, seminal vesicles, and cowpers glands weights were still significantly decreased at the high dose of flutamide (0.5 mg/animal) and DBP (20 mg/animal), but the weights of testes and epididymides were not different. Serum testosterone decreased significantly in DBP treated animals and slightly, not significantly, in flutamide group. While DBP still significantly decreased the expression of AR protein in testis, flutamide recovered from downregulation of AR protein and did not affect the expression of ERa and ER protein in the testes. Based on these results, flutamide and DBP have shown several similar patterns in reproductive abnormalitis, but some marked differences which may be caused by different acting mechanism.