We report a case of Hunter's syndrome in an 8-year-old boy, who presented with ivory-white colored papules and ridges on the left chest area, which were regarded as pathognomonic cutaneous markers for Hunter's syndrome. He also showed growth retardation, dear corneas, hepatosplenomegaly and fair intellect. The histopathological findings of papular lesions revealed loosely arranged collagen fibers with massive mutinous material which stained positively with alcian blue at both pH 2.0 and 0.5. On quantitation of glycosaminoglycans by hexuronic add assay in 24-hour urine, excessive excretion of creatinine was noted. To the best of our knowledge, this is the first case in Korea.
Alcian Blue ; Child ; Collagen ; Cornea ; Creatinine ; Glycosaminoglycans ; Humans ; Hydrogen-Ion Concentration ; Korea ; Male ; Mucopolysaccharidosis II* ; Thorax

No abstract available.
Biopsy, Fine-Needle* ; Thyroid Gland* ; Thyroid Nodule*

No abstract available.

PURPOSE: To give a help in the interpretation of cardiac cine-MR examination, the extent, shape, and timing of appearance of signal void regions near atrioventricular(A-V) valve prospectively evaluated in the healthy population. MATERIALS AND METHODS: Using an axial gradient-echo technique with small flip angle, repetition time(TR) of 36 msec and echo time(TE) of 22 msec, 20 volunteers without known valvular abnormalities undertook cardiac cine-MR imaging including atrioventricualr valve areas. RESULTS: Transient signal void was observed within the atrium near the tricuspid(13/20 = 65%) and mitral valves(9/20 = 45%), respectively, which is so called "physiologic atrioventricular valvular insufficiency". Eight subjects revealed the signal void areas near both tricuspid and mitral valves but, 5 subjects didnot show any evidences of physiologic insufficiency. This physiologic condition does not extend more than lcm proximal to A-V valve plane and is generally observed only during early systole. Its morphology is semilunar or triangular configuration with the base to the valve plane in most cases of normal tricuspid insufficiency and small globular appearance in most cases of normal mitral insufficiency. CONCLUSION: Awareness of normal signal void areas near the A-V valve and their characteristics is critical in the interpretation of cardiac cine MR examinations and maybe helpfal in the study of the normal cardiac physiology.
Magnetic Resonance Imaging* ; Mitral Valve ; Mitral Valve Insufficiency ; Physiology ; Prospective Studies ; Systole ; Volunteers

Kimura's disease is a rare benign disease characterized by subcutaneous or dermal tumors occurring predominantly on the head and the neck. It usually occurs in young adults without constitutional symptoms, except for peripheral blood eosinophilia. The histopathologic features of the tumor are characterized by dense lymphoid aggregates containing a prominent germinal center and by the proliferation of endothelial cells associated with varying degrees of lymphocytic, histiocytic, and eosinophilic infiltration. We report a case of Kimura's disease without peripheral blood eosinophilia in a 24-year-old male who had had a painless and slowly growing tumor-like swelling on his right groin for one year. The mass was excised, and the specimen was confirmed as Kimura's disease. After surgical excision, the lesion recurred, so 30 mg of oral prednisone was given daily for one month and then decreased gradually for another one month. Now, the lesion is completely healed.
Endothelial Cells ; Eosinophilia ; Eosinophils ; Germinal Center ; Groin* ; Head ; Humans ; Male ; Neck ; Prednisone ; Young Adult

PURPOSE: MR is the most useful imaging method in evaluating the anatomic changes of the optic chiasm (OC). The purpose of this study is to investigate the relationship between the OC displacement and visual manifestations. MATERIALS AND METHODS: We retrospectively reviewed 44 patients who showed displacement of OC on brain MR. The pattern of OC displacement was classified into 3 groups according to following criteria: group A included the patients with OC displacement only due to empty sella;group B represented the patients with OC displacement by a lesion and the border between the lesion and OC was distinct;and group C was the patients with OC displacement by a lesion and had a indistinct border or thinning of the OC. RESULTS: Visual symptoms and signs were noted in 12 patients and the most common sign was bitemporal hemianopsia. In group A(7 patients), the visual symptoms and signs were seen in only one patient(14%), in whom contracted visual fields persisted since previous pituitary apoplexy had developed. In group B(30 patients), the visual symptoms and signs were seen in 4 patients(13%) who had tumorous conditions except one case of cysticercosis. In group C(7 patients), the visual symptoms and signs were seen in all patients (100%). CONCLUSION: The more OC is compressed, the more the prevalence of visual symptoms and signs increases. However, there was no correlation between the occurrence of visual symptoms and the presence of OC displacement only without compression.
Brain ; Cysticercosis ; Hemianopsia ; Humans ; Optic Chiasm* ; Pituitary Apoplexy ; Prevalence ; Retrospective Studies ; Visual Fields

Heterotopic pregnancy, simultaneous intrauterine and extrauterine pregnancy, is an extremely rare case. The incidence of heterotopic pregnancy was about 1 to 30,000 pregnancies, but it has increased after wider use of assisted reproductive technology. The rising incidence presents a serious problem as the diagnosis of this potentially fatal condition is often missed. Careful pelvic examination combined with serial beta-hCG determinations, and transvaginal sonography to evaluate the adnexal region are necessary prerequisites for early diagnosis. We report a case of heterotopic pregnancy following in vitro fertilization and embryo transfer(IVF-ET) with a brief review of literature.
Diagnosis ; Early Diagnosis ; Embryo Transfer* ; Embryonic Structures* ; Fertilization in Vitro* ; Gynecological Examination ; Incidence ; Pregnancy ; Pregnancy, Heterotopic* ; Reproductive Techniques, Assisted

PURPOSE: Colorectal cancer (CRC) has a high risk for postoperative thromboembolic complications such as venous thromboembolism (VTE) compared to other surgical diseases, but the relationship between VTE and CRC in Asian patients remains poorly understood. The present study examined the incidence of symptomatic VTE in Korean patients who underwent surgery for CRC. We also identified risk factors, incidence and survival rate for VTE in these patients. MATERIALS AND METHODS: The patients were identified from the CRC database treated from January 2011 to December 2012 in a single institution. These patients were classified into VTE and non-VTE groups, their demographic features were compared, and the factors which had significant effects on VTE and mortality between the two groups were analyzed. RESULTS: We analyzed retrospectively a total of 840 patients and the incidence of VTE was 3.7% (31 patients) during the follow-up period (mean, 17.2 months). Histologic subtype (mucinous adenocarcinoma) and previous history of VTE affected the incidence of VTE on multivariate analysis. There was a statistically significant difference in survival rate between the VTE and non-VTE group, but VTE wasn't the factor affecting survival rate on multivariate analysis. Comparing differences in survival rate for each pathologic stage, there was only a significant difference in stage II patients. CONCLUSION: Among CRC patients after surgery, the incidence of VTE was approximately 3% within 1 year and development of VTE wasn't a significant risk factor for death in our study but these findings are not conclusive due to our small sample size.
Asian Continental Ancestry Group ; Colorectal Neoplasms* ; Follow-Up Studies ; Humans ; Incidence ; Mortality ; Multivariate Analysis ; Prognosis* ; Retrospective Studies ; Risk Factors ; Sample Size ; Survival Rate ; Venous Thromboembolism*

Phakomatosis pigmentovascularis(PPV) was first described in 1947 as a distinctive association of vascular and pigmentary nevi by Ota et al. Hasegawa et al subclassified the disorder into eight types and type I a is characterized by the coexistence of nevus flammeus and nevus pigmentosus et verrucous, which is not associated with systemic organ involvement. PPV type I a is relatively rare and a case with multiple pyogenic granulomas developed in pregnancy, is not reported yet. We present a case of PPV type I a with multiple pyogenic granulomas developed in pregnancy within nevus flammeus in a 29-year-old female.
Adult ; Female ; Granuloma, Pyogenic* ; Humans ; Neurocutaneous Syndromes* ; Nevus ; Port-Wine Stain ; Pregnancy*

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA), also termed Bland-White-Garland syndrome, is a rare congenital cardiac anomaly characterized by myocardial ischemia which becomes symptomatic during early infancy leading to infarction, left heart failure or even death. More than 90% of patients can be dead within first year of life if untreated, so adult type ALCAPA without surgical correction is quitely rare. We present a case of a 20-year-old man with ALPACA syndrome whose diagnosis took several years to be made because he was mistaken to have organic mitral regurgitation.
Adult* ; Bland White Garland Syndrome ; Camelids, New World ; Coronary Vessels* ; Diagnosis ; Heart Failure ; Humans ; Infarction ; Mitral Valve Insufficiency ; Myocardial Ischemia ; Pulmonary Artery* ; Young Adult