• Nuclear Medicine and Molecular Imaging
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• 제40권6호
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• pp.316-321
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• 2006

목적: 동정맥 혈관기형은 혈역학적 변화를 일으켜 생명에 위험을 줄 수 있으므로, 사지의 선천성 혈관기형 환자에서 동정맥 혈관기형과 비동정맥 혈관기형을 정확히 감별진단 하는 것이 중요하다. 이 연구에서는 혈관조영술과 비교하여 경동맥 폐관류 신티그라피(transarterial lung perfusion scintigraphy, TLPS)가 선천성 혈관기형 중 상하지에 위치하는 동정맥 혈관기형의 진단과 치료 효과 평가에 유용한 지를 알아보았다. 대상 및 방법: 색전술/경화요법 전에 처음 TLPS를 시행 받은 57명(나이: $21{\pm}13$세, 남:여 = 26:31)이 연구대상이 되었다. 병변의 위치는 상지가 9명이었고 하지가 48명이었다. TLPS에서 폐의 시간 방사능 곡선을 이용하여 혈액 단락량을 구하였다. 모든 환자들에서 혈관조영술을 시행하여 혈관기형의 해부학적 및 혈역학적 평가를 하였다. 혈관조영술로 동전맥 혈관기형이 진단된 환자들은 치료 후 TLPS를 추적 시행하였다. 결과: 혈관조영술상 16명은 동정맥 혈관기형(상지 8명, 하지 8명), 나머지 41명은 비동정맥 혈관기형(상지 1명, 하지 40명)으로 진단되었다. 동정맥 혈관기형 환자들의 치료 전 평균 혈액 단락량은 비동정맥혈관기형 환자들에 비하여 유의하게 높았다($66.4{\pm}25.8%\;vs.\;2.8{\pm}4.3%$, p<0.0001). TLPS의 치료 전 상하지 동정맥 혈관기형을 진단하는 예민도와 특이도, 정확도는 각각 93.8% (15/16), 100% (41/41), 98.2% (56/57)이었다(혈액 단락량 기준 역치 = 20%). 동정맥 혈관기형 환자 16명은 추적 TLPS를 시행하였고 이 중 13명은 치료 평가에서 혈관조영술과 일치하는 결과를 보여주었다(81.3%). 색전술/경화요법 시행 후 TLPS 혈액 단락량은 유의하게 감소하였다($69.5{\pm}24.0%\;vs.\;41.0{\pm}34.7%$, p = 0.01). 결론: TLPS는 상하지동정맥 혈관기형에서 혈액 단락량의 반정량적인 정보를 제공해주며 혈관 조영술과 높은 검사결과 일치도를 보여주었다. 그러므로, TLPS는 상하지 동정맥 혈관기형의 진단과 치료 평가에 유용하다.

• Tuberculosis and Respiratory Diseases
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• 제72권1호
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• pp.50-54
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• 2012

Hereditary hemorrhagic telangiectasia (HHT, Osler-Weber-Rendu disease) is a rare autosomal dominant disease characterized by heterogenous multisystemic dysplasia of the vascular tissue. Prevalence of HHT is 1 in 5,000~8,000. HHT commonly presents with recurrent epistaxis, but may have more serious consequences if visceral vascular beds are involved. Approximately 30~50% of HHT cases also present with pulmonary arteriovenous malformation (PAVM). Spontaneous hemothorax is less common, and PAVM is one of the causes leading to hemothorax. Our case involved an 18-year-old female who had suddenly developed right chest pain. The reason for chest pain was due to right spontaneous hemothorax accompanied by PAVM in the right middle lobe. The patient was additionally diagnosed with HHT upon examination of her family history, specifically through her mother's symptom that included recurrent epistaxis and mucosal telangiectasia.

• 대한통합의학회지
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• 제9권4호
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• pp.85-89
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• 2021

Background : Klippel-Trenaunay-Weber syndrome (KTS) is a rare congenital medical condition characterized by complex vascular malformation. KTS consists of a classic triad of capillary malformation (hemangioma), venous malformations and bone or soft tissue hypertrophy causing limb asymmetry. The aim of this report is to describe management for gait disturbance and foot pain in a Patient with KTS using custom-made total contact insole. Case presentation : A 32-year-old man with KTS presented with a 3-year history of gait disturbance on hard surface due to right first toe pain and Achilles tendon tightness. The patient had soft tissue hypertrophy, varicose veins and port-wine stains over the right lower limb associated with KTS. True leg length discrepancy was 2 cm. We prescribed custom-made total contact insole to protect his deformed foot and correct leg length discrepancy. The insole of right side included wedge shaped heel lift and the insole of left side included full length lift to add extra support on unaffected side. Also, we provided compression stocking and physiotherapy including manual lymphatic drainage for lymphedema and stretching exercise for tightness in right lower extremity. At 3 years follow-up, postural alignment including pelvic obliquity was improved using a custom-made total contact insole. The degree of scoliosis and foot pain were also reduced. Conclusion : An individualized and multidisciplinary approach is essential regarding the complexity of comorbidities in patients with KTS. For patients with KTS, orthotic management should be considered to prevent and correct deformities related to KTS. Active orthotic management, compression stocking and physiotherapy can enhance the quality of life and function in patients.

• Journal of Veterinary Science
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• 제24권4호
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• pp.50.1-50.6
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• 2023

This paper reports the clinical findings and surgical treatment of feline right patent ductus arteriosus (RPDA) with a left aortic arch. A two-month-old female Maine Coon was referred for an investigation of regurgitation after weaning. RPDA with a left aortic arch was diagnosed based on the echocardiographic and computed tomography (CT) findings. A right-fourth intercostal thoracotomy was found to be an appropriate approach to the duct. Preoperative diagnosis is crucial and diagnostic imaging, including radiography, echocardiography, and cardiac CT examination, is essential for determining if the aortic arch is right or left.

• Neonatal Medicine
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• 제25권3호
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• pp.126-130
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• 2018

Parkes Weber syndrome is a rare congenital vascular anomaly, related to the RAS p21 protein activator 1 (RASA1) gene. It is characterized by capillary cutaneous malformations, bony and soft tissue hyperplasia, and multiple arteriovenous fistulas throughout the affected upper or lower extremity. These arteriovenous fistulas can be associated with life-threatening complications such as bleeding, thrombosis, and high output heart failure. In this report, we present a neonate who had a disproportionately hypertrophied left upper limb with port-wine stain, dystrophy of the left humerus, and hypertrophy of the left clavicle on X-ray, and arteriovenous malformation and massive dilatation of the left subclavian artery on magnetic resonance angiography. Exome sequencing analysis revealed a novel heterozygous splicing mutation (c.1776+2T>A) in the RASA1 gene. To the best of our knowledge, this report is the first case of RASA1-related Parkes Weber syndrome in Korea.

• Journal of Korean Neurosurgical Society
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• 제58권5호
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• pp.471-475
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• 2015

Intracerebral hemorrhage (ICH) is common among various types of storkes; however, it is rare in young patients and patients who do not have any risk factors. In such cases, ICH is generally caused by vascular malformations, tumors, vasculitis, or drug abuse. Basal ganglia ICH is rarely related with distal lenticulostriate artery (LSA) aneurysm. Since the 1960s, a total of 29 distal LSA aneurysm cases causing ICH have been reported in the English literature. Despite of the small number of cases, various treatment methods have been attempted : surgical clipping, endovascular treatment, conservative treatment, superficial temporal artery-middle cerebral artery anastomosis, and gamma-knife radiosurgery. Here, we report two additional cases and review the literature. Thereupon, we discerned that young patients with deep ICH are in need of conventional cerebral angiography. Moreover, initial conservative treatment with follow-up cerebral angiography might be a good treatment option except for cases with a large amount of hematoma that necessitates emergency evacuation. If the LSA aneurysm still persists or enlarges on follow-up angiography, it should be treated surgically or endovascularly.

• 대한두경부종양학회지
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• 제32권1호
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• pp.29-32
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• 2016

Venous malformation with phleboliths is uncommon cause of unilateral parotid swelling. The clinical and radiographic appearance of venous malformation with phleboliths may masquerade as sialolithiasis. A 49-year-old female complained about unilateral parotid swelling for 6 years. Preoperative evaluation including computed tomography and sonography showed the suspicion of venous malformation with phleboliths. Superficial parotidectomy was performed. Pathological examination confirmed that the mass was venous malformation with phleboliths combined with sialolith in the parotid gland. We present the case of unilateral parotid swelling caused by a venous malformation combined with sialolithiasis.

• Journal of Chest Surgery
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• 제22권1호
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• pp.25-31
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• 1989

Forty-five patients, aged 16 months to 15.5 years mean 69 months, with a wide variety of cardiac malformations underwent the modified Fontan operation between Sep. 1986 to Aug. 1988. Nineteen patients had previously undergone palliative operations mainly modified B-T shunt. Twenty patients had a mean pulmonary artery pressure greater than 15 mmHg, with nine operative deaths. Thirteen patients had anomalies of systemic venous connection and seven patients had anomalies of pulmonary venous connection. There were eighteen patients under the age 4 years and fifteen of them survived [83.3%]. Eighteen patients had a pulmonary vascular resistance [PVR] more than 2.5U/m, and nine died [50%] whereas two of twenty-three with a PVR less than 2.5U/m died[8.6%]. PVR and anomalies of pulmonary venous connection had a significant influence on survival, but age and anomalies of systemic venous connection did not. Amount of pleural effusion drained postoperatively and PVR had positive linear correlation. Pulmonary artery pressure was not an independent predictor of outcome and pulmonary artery pressure alone should not contraindicate a Fontan procedure if PVR is low. In general, the Fontan operation should be done at a younger age less than 4 year to avoid ventricular dysfunction due to long-standing exposure to hypoxia.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.152-156
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• 2016

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features. We have also reviewed recently published reports and the diagnostic criteria proposed by various authors in order to facilitate the clinical diagnosis of these children in pediatric neurology clinics.

• Archives of Plastic Surgery
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• 제43권1호
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• pp.10-18
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• 2016

Background Lymphatic malformation (LM) is a form of congenital vascular malformation with a low incidence. Although LM has been studied, no consensus has emerged regarding its cause or treatment. Methods In this study, we retrospectively evaluated 40 patients who visited our vascular anomalies center for the treatment of cervicofacial LM, which is a common manifestation of LM. The medical records of patients over a period of 12 years were reviewed and analyzed for commonalities regarding the diagnosis and the results of treatment. Results Suspected cervicofacial LM was confirmed through imaging studies. No difference in incidence was observed according to sex, and 73% of patients first presented with symptoms before the age of two years. The left side and the V2-V3 area were most commonly affected. No significant differences in incidence were observed among the macrocystic, microcystic, and combined types of LM. A total of 28 out of 36 patients received sclerotherapy as the first choice of treatment, regardless of the type of lesion. Complete resolution was achieved in only 25% of patients. Conclusions LM is important to confirm the diagnosis early and to choose an appropriate treatment strategy according to the stage of the disease and each individual patient's symptoms. When treatment is delayed or an incorrect treatment is administered, patient discomfort increases as the lesion gradually spreads. Therefore, more so than is the case for most other diseases, a team approach on a case-by-case basis is important for the accurate and appropriate treatment of LM.