Hereditary anhidrotic ectodermal dysplasia is a rare condition characterized by underdeveloped ectodermal structure including the skin, teeth or skin appendages. The patient has characteristic feature of anhidrosis, hypotrichosis and defective dentition. We experienced a case of hereditary anhidrotic ectodermal dysplasia in a l-month-old male infant who had unexplained recurring fever, anhidrosis and characteristic facial feature, so we established the diagnosis with clinical feature and skin biopsy.
Biopsy ; Dentition ; Diagnosis ; Ectoderm ; Ectodermal Dysplasia* ; Fever ; Humans ; Hypohidrosis ; Hypotrichosis ; Infant ; Male ; Skin ; Tooth

To evaluate the isolation rate of acid-fast bacilli on Ziehl-Neelsen stain from biopsy specimens of extrapulmonary tuberculosis proven by chronic granulomatous inflammation, 286 cases of extrapulmonary tuberculosis were reviewed and the results are as follows : 1) Mean age was 27.3 years old and lymphatic tuberculosis was more prevalent in the female but others were more common in the male. 2) The most common site of extrapulmonary tuberculosis was pleura (103 cases ; 36%) followed by lymph nodes (87 cases ; 30.4%), gastrointestinal tract (27 cases ; 9.4%), skin and soft tissue (23 cases ; 8.0%), bone (19 cases ; 6.6%), urinary tract (14 cases ; 4.6%), larynx (9 cases ; 3.2%) and breast (5 cases ; 1.8%) in order of frequencies. 3) Of 286 cases, 30.4%, (87 cases) of the biopsy specimens showed acid fast bacilli on microscopy. The isolation rate according to the sites was slightly higher in breast and lymph nodes as 3 of 5 cases (60.0%) and 35 of 87 cases (40.2%) respectively, and followed by 3 of 9 cases (33.3%) in the larynx, 4 of 13 cases (30.8%) in the urinary tract, 5 of 19 cases (26.3%) in the bone, 7 of 27 cases (25.9%) in the gastrointestinal tract, 26 of 103 cases (25.2%) in the pleura, and 4 of 23 cases (17.4%) in the skin and soft tissue, in order of frequencies. 4) The prevalence of extrapulmonary tuberculosis associated with pulmonary tuberculosis on chest X-ray was 85 of 286 cases (29.7%).
Biopsy ; Breast ; Female ; Gastrointestinal Tract ; Humans ; Inflammation ; Larynx ; Lymph Nodes ; Male ; Microscopy ; Pleura ; Prevalence ; Skin ; Thorax ; Tuberculosis* ; Tuberculosis, Pulmonary ; Urinary Tract

The teratoma is made up of a variety of parenchymal cell types representative of more than one germ layer. Retroperitoneal teratoma is an uncommon neoplasm which occurs in only 10% of all retroperitoneal primary neoplasm. Primary retroperitoneal teratoma has been rarely seen in adults and 3 cases has been reported in Korea. Recently we experienced a case of retroperitoneal teratoma, which was suspected by clinical investigation and confirmed by exploration and microscopic examination. CT scan is very useful in differential diagnosis of this rare tumor. We report a case of retroperitoneal teratoma in 22 year old young woman.
Adult* ; Diagnosis, Differential ; Female ; Germ Layers ; Humans ; Korea ; Teratoma* ; Tomography, X-Ray Computed ; Young Adult

PURPOSE: To determine the MR and CT imaging findings of inflammatory pseudotumor of the extraorbital head and neck. MATERIALS AND METHODS: We reviewed the MR (n=10) and CT (n=9) imaging studies of 11 patients with this condition (M:F=5:6, age range: 35-75 years), analysing each case in terms of location, occupying space, signal intensity, intracranial involvement, degree of contrast enhancement and adjacent bone change. Follow-up images were obtained in nine cases, and the response of each patient to steroid treatment was reviewed. RESULTS: Lesions involved the masticator space (n=8), the buccal space (n=6), the nasopharynx (n=5), the paranasal sinus (n=4), the parapharyngeal space (n=3), the prevertebral space (n=2), the orbit (n=2), the carotid space (n=2), the paravertebral space (n=1), parotid space (n=1), and the oral cavity (n=1). In ten of eleven cases, there was adjacent bone change. In three cases, the cavernous sinus was involved, and in two, the dura. One case involved both of them. At T2-weighted imaging, the lesions showed hypointensity in nine of ten cases; in four of nine, signal intensity was markedly low, and in no case was it diffusely high. In five of nine cases, the mass decreased in size after steroid therapy. CONCLUSION: Inflammatory pseudotumor showed iso-to hypointensity at T2-weighted imaging. Lymphadenopathy was not apparent.
Cavernous Sinus ; Follow-Up Studies ; Granuloma, Plasma Cell* ; Head* ; Humans ; Lymphatic Diseases ; Magnetic Resonance Imaging* ; Mouth ; Nasopharynx ; Neck* ; Orbit

BACKGROUND: Supravalvular aortic stenosis is a rare form of congenital cardiac anomaly involving ascending aorta distal to coronary orifice. MATERIALS AND METHODS: We operated 12 cases of supravalvular aortic stenosis between July 1986 and March 1997. Age ranged from 4 to 17 (mean 10.2) years and 11 of them were male. Nine patients had clinical features of Williams syndrome. We experienced two types of supravalvular aortic stenosis, including 10 hour glass type and 2 diffuse type. RESULTS: Preoperative transaortic pressure gradient ranged from 40 to 180 (mean 92) mmHg by cardiac catheterization. Pulmonary stenosis was associated in 5 and 2 of them required angioplasty. Operative techniques included 6 standard aortoplasty with elliptical patch, 4 extended aortoplasty with inverted Y shaped patch, and 2 modified Brom's repair. There were no operative deaths. Postoperative echocardiographic evaluation was done at a mean interval of 12 months. Grade I or II aortic regurgitation was found in 3 cases. Postoperative cardiac catheterization revealed a mean transaortic pressure gradient of 26 (range 0 to 75) mmHg. A mean pressure drop was 78 (range 30 to 114) mmHg. All patients were followed up for a mean of 40 (range 1 to 67) months with uneventful clinical course. CONCLUSIONS: Our data proved the low mortality and excellent hemodynamic improvement after surgical relief of supravalvular aortic stenosis in children.
Angioplasty ; Aorta ; Aortic Stenosis, Supravalvular* ; Aortic Valve Insufficiency ; Aortic Valve Stenosis ; Cardiac Catheterization ; Cardiac Catheters ; Child ; Echocardiography ; Glass ; Hemodynamics ; Humans ; Male ; Mortality ; Pulmonary Valve Stenosis ; Williams Syndrome

Posterior fossa is a site next to the middle fossa where arachnoid cyst frequently occurs. Generally, most arachnoid cysts are asymptomatic and are found incidentally in most cases. Although arachnoid cysts are benign and asymptomatic lesions, patients with posterior fossa arachnoid cysts often complain of headaches, gait disturbance, and ataxia due to the local mass effects on the cerebellum. We observed a patient with a posterior fossa arachnoid cyst who had visual symptoms and a headache, but did not have gait disturbance and ataxia. We recommended an emergency operation for decompression, but the patient refused for personal reasons. After 7 days, the patient revisited our hospital in a state of near-blindness. We suspected that the arachnoid cyst induced the hydrocephalus and thereby the enlarged third ventricle directly compressed optic nerves. Compressed optic nerves were rapidly aggravated during the critical seven days; consequently, the patient's vision was damaged despite the operation. Considering the results of our case, it is important to keep in mind that the aggravation of symptoms cannot be predicted; therefore, symptomatic arachnoid cysts should be treated without undue delay.
Arachnoid Cysts ; Arachnoid* ; Ataxia ; Cerebellum ; Decompression ; Emergencies ; Gait ; Headache ; Humans ; Hydrocephalus ; Optic Nerve ; Papilledema ; Third Ventricle

BACKGROUND: To evaluate the risk factor and long-term result of arterial switch operation , a retrospective study was done. MATERIAL AND METHOD: A retrospective analysis was done to evaluate the early and long-term results on 58 patients who underwent an arterial switch operation(ASO) for transposition of the great arteries(TGA) with intact ventricular septum, between January 1988 and December 1996. Beforesurgery, 36 patients(62.1%) underwent balloon atrial septostomy, 32 patients(51.7%) received PGE1 infusion, and preparatory banding of pulmonary artery was performed on 6 patients(mean LV/RV pressure ratio 0.53+/-0.11). RESULT: The age at operation ranged from 1 to 137 days(mean 24+/-26 days) and the weights ranged from 1.8 to 6.8 kg (mean 3.5+/-0.8 kg). There were 14 early deaths(24.1%), but of the last 24 patients operated on since 1994, there were only 2 early deaths(8.3%). In the risk factor analysis, the date of operation was the only risk factor for early death(p-value <0.01). Eight of the 14 early deaths were due to acute myocardial failure(mainly inadequate coronary blood flow). The length of follow-up ranged from 2 months to 8 years, average of 36+/-27 months. The follow-up included sequential noninvasive evaluations and 21 catheterizations and angiographic studies performed 5 to 32 months postoperatively with particular attention to the great vessel and coronary anastomosis, ventricular function, valvular competence, and cardiac rhythm. There were 5 late deaths(11.4%), one of thesedeaths was related to the late coronary problems, two to aspiration, one to uncontrolled chronic mediastinitis, and one to progressive aortic insufficiency and heart failure. The most frequent postoperative hemodynamic abnormality was supravalvular stenosis and the degree of pulmonary or aortic obstruction had slowly progressed in some cases, however there were no children who had to undergo a reoperation for supravalvular pulmonary or aortic stenosis. Aortic regurgitation was identified in 9 patients, which was mild in 7 and moderate in 2 and had progressed in some cases. Two patients who had an unremarkable perioperative course were identified as having coronary artery obstructions. The other late survivors were in good condition, were in sinus rhythm, and had normal LV functions. Actuarial survival rate at 8 years was 68.8%. CONCLUSION: We concluded that anatomic correction will be established as the optimal approach to the TGA with intact ventricular septum, though further long-term evaluations are needed.
Alprostadil ; Aortic Valve Insufficiency ; Aortic Valve Stenosis ; Arteries* ; Catheterization ; Catheters ; Child ; Constriction, Pathologic ; Coronary Vessels ; Follow-Up Studies ; Heart Failure ; Hemodynamics ; Humans ; Mediastinitis ; Mental Competency ; Pulmonary Artery ; Reoperation ; Retrospective Studies ; Risk Factors* ; Survival Rate ; Survivors ; Transposition of Great Vessels ; Ventricular Function ; Ventricular Septum* ; Weights and Measures

BACKGROUND: This study is to evaluate the effectiveness and application of Lecompte procedure as a treatment for various complex cardiac anomalies with pulmonary outflow tract obstruction. Methods: Between July 1988 and December 1997, 44 patients underwent Lecompte procedure in Seoul National University Children's Hospital. The male to female ratio was 24 to 20 and the mean age was 29.2 months (range, 3 to 83). Of these patients, 28 (63.6%) had transposition of great arteries with ventricular septal defect and pulmonary stenosis (or pulmonary atresia), 14 (31.8%) had double outlet right ventricle with pulmonary stenosis (or pulmonary atresia), and so on. The principles of the technique are 1) extension of the ventricular septal defect or conal resection, 2) construction of a intracardiac tunnel connecting the left ventricle to the aorta, and 3) direct connection, without a prosthetic conduit, of the pulmonary trunk to the right ventricle. RESULTS: There were 3 in-hospital deaths and their causes were sustained hypoxia, myocardial failure, and sepsis, respectively. There was 1 late death due to sepsis. Reoperations were performed in 6 patients who had pulmonary outflow tract obstructions (4 cases), residual muscular ventricular septal defect (1 case), and recurrent septic vegetation (1 case). The cumulative survival rates by the Kaplan-Meier method were 92.7%, 92.7%, and 92.7% at 1, 2, and over 4 years. The reoperation free survival rates were 92.7%, 92.7%, and 70.2% at 1, 3, and over 5 years. Among the risk factors for the operative death, aortic cross clamping time had statistical significance (p<0.05) and all the risk factors for the recurrent pulmonary stenosis such as age, pulmonary artery index, and materials used for the pulmonary outflow tract reconstruction had no statistical significance (p>0.05). CONCLUSIONS: Our review suggests that Lecompte procedure is an effective treatment modality for various complex cardiac anomalies with pulmonary outflow tract obstruction. Repair in early age is possible and the rates of mortality and morbidity are also acceptable.
Anoxia ; Aorta ; Constriction ; Double Outlet Right Ventricle ; Female ; Heart Diseases* ; Heart Failure ; Heart Septal Defects, Ventricular ; Heart Ventricles ; Heart* ; Humans ; Male ; Mortality ; Pulmonary Artery ; Pulmonary Valve Stenosis ; Reoperation ; Risk Factors ; Seoul ; Sepsis ; Survival Rate ; Transposition of Great Vessels

OBJECTIVE: To evaluate the feasibility and clinical and angiographic outcomes of stent-assisted embolization for complex middle cerebral artery (MCA) aneurysms. METHODS: The records of 23 consecutive patients with 24 MCA aneurysms, who underwent stent-assisted embolization of the aneurysm, were retrospectively evaluated. RESULTS: Fifteen aneurysms were treated with one stent and 8 were treated using more than two stents (5 a stent-within-a-stent, 1 triple stents, and two Y-stent). Angiographically, complete or near complete occlusion was achieved in 15 aneurysms (65.2%), residual neck in five (21.7%), and residual aneurysm in three (13.1%). Five aneurysms demonstrated thrombosis within the stent during the procedure and hospitalization, and were resolved by intraarterial and intravenous Tirofiban injection. Symptomatic thromboembolic complications were developed in five patients and permanent deficits demonstrated in two patients with modified Rankin Scale 1 and 2, respectively. Treatment-related permanent morbidity and mortality rates were 8.3% and 0% with relatively high complication rate. Angiographic follow-up was available in 17 aneurysms at 6-31 months (mean, 13.2 months) and showed stable or improved in 15 (88.2%) and major and minor recurrence in one, respectively. CONCLUSION: Complex MCA aneurysms could be treated by stent-assisted coiling and showed lower recanalization rate during mid-term follow-up by effective flow diversion due to various stent-assisted techniques. Our results warrant further study with a longer follow-up period in a larger sample.
Aneurysm ; Follow-Up Studies ; Hospitalization ; Humans ; Intracranial Aneurysm ; Middle Cerebral Artery ; Neck ; Recurrence ; Retrospective Studies ; Stents ; Thrombosis ; Tyrosine

Vibrio vulnificus is an estuarine bacterium which causes septicemia and serious wound infection. But the pathogenesis of Vibrio vulnificus infection is unknown. Among the exotoxins secreted by Vibrio vulnificus, cytolysin has been incriminated as one of the potent virulence determinants. In order to clarify the toxicity of cytolysin in mice, the morphological changes of various organs after the intravenous injection of cytolysin were observed. The pathological changes of mouse due to a single intravenous injection of Vibrio vulnificus cytolysin (8 hemolytic units) were as follows : Blood volume was decreased, and pleural effusion, vascular permeability of lungs, wet weight and volume of lungs were increased. And cytolysin was lead to patchy hemorrhage of pulmonary surface. The microscopic findings of mouse lung in experimental group were characterized by (1) extensive perivascular edema; (2) accumulation of intraalveolar fluid with electron dense particles; (3) narrowing of alveolar space; (4) leukocyte infiltration in perivascular and intraalveolar space; (5) vasodilatation of capillary; (6) damaged capillary endothelial cells and alveolar epithelial cells; (7) interstitial edema of interalveolar septa; (8) disorganization of collagen bundles. These results indicate that the lung may be an important target organ of cytolysin in the pathologenesis and lethal activity of Vibrio vulnificus infections.
Animals ; Blood Volume ; Capillaries ; Capillary Permeability ; Collagen ; Edema ; Endothelial Cells ; Epithelial Cells ; Exotoxins ; Hemorrhage ; Injections, Intravenous ; Leukocytes ; Lung ; Mice ; Perforin* ; Pleural Effusion ; Pulmonary Edema ; Sepsis ; Vasodilation ; Vibrio vulnificus* ; Vibrio* ; Virulence ; Wound Infection