PURPOSE: To report the first case of Waardenburg syndrome type 4 in Korea. CASE SUMMARY: A 3-year-old boy visited our clinic to have his abnormal right eye iris color checked. The patient had a previous operation Hirschsprung's disease. In addition, his older sister and aunt showed similar ocular findings. A general physical examination, hearing test, and fundus examination were performed. On examination, hypochromic heterochromic iridum, albinism of the posterior pole upon ipsilateral fundus, and dystopia canthorum were found. There was no abnormal finding in the hearing test. CONCLUSIONS: The patient showed hypochromic heterochromic iridum, dystopia canthorum, and albinism of ipsilateral fundus. He also had a family history of Waardenburg syndrome and had surgery associated with congenital megacolon. The patient was diagnosed with Waardenburg syndrome type 4.
Albinism ; Child, Preschool ; Hearing Tests ; Hirschsprung Disease ; Humans ; Iris ; Korea ; Male ; Physical Examination ; Siblings ; Waardenburg Syndrome*

A lipomatous tumor originating in the uterus is a rare benign neoplasm, and most reported cases have been of the mixed type. Authenticated cases of pure lipomas of the uterus are extremely rare. We report one such case in which the findings of magnetic resonance imaging provided the basis for preoperative diagnosis.
Diagnosis ; Lipoma* ; Magnetic Resonance Imaging ; Uterine Neoplasms ; Uterus

Rotor syndrome is a rare disease of hereditary hyperbilirubinemia transmitted with autosomal recessive trait. In general, Rotor syndrome shows direct hyperbilirubinemia and there has been several reports since Sons's report in 1966, in Korea. A 34-year-old female was admitted with the chief complaint of intermittent icteric sclera for 24 years. There was no family history of jaundice. Rotor syndrome was diagnosed by oral cholecystogram, BSP retention test, 99mTc-DISIDA scan, liver biopsy and electron microscopy study of liver biopsy specimen. We report this case with brief review of the literature.
Adult ; Biopsy ; Female ; Humans ; Hyperbilirubinemia ; Hyperbilirubinemia, Hereditary* ; Jaundice ; Korea ; Liver ; Microscopy, Electron ; Rare Diseases ; Sclera ; Technetium Tc 99m Disofenin

PURPOSE: The most feared complication of gastrointestinal tract operations is anastomotic leakage, not only because of the presumed individual surgeon's culpability but also because of the assumption that this event is often fatal. We have experienced 32 cases of anastomotic leakage after elective gastric resection during 8 years. The purpose of this study was to evaluate the result of their treatment. MATERIALS AND METHODS: We evaluated the records of 1335 patients who had undergone elective gastric resection for an adenocarcinoma of stomach from January 1995 to October 2003 and conducted a retrospective, multivariate analysis. RESULTS: Of the 1335 patients, 32 (2.4%) sustained an anastomotic leakage. Anastomotic leakages usually developed on mean postoperative day 9.1+/-3.2 (range:1~18 days). Overall, 31.3% (10/32) of patients who sustained an anastomotic leakage died. The anastomotic leakages were identifed by radiological study or by operative finding at the site of the duodenal stump (20 patients), the esophagojejunostomy (7), the gastroduodenostomy (4), and the gastrojejunostomy (1). Fourteen patients (43.8%) underwent a relaparotomy, a drainage procedure in the main, and 18 patients (56.3%) were treated conservatively. The mortality rates were 42.9% (6/14) and 22.2% (4/18), respectively, but this difference was not statistically significant. A cox's proportional hazard analysis showed that a body-mass Index < 24 kg/m2 (odds ratio 5.55, 95% CI: 0.69~44.82) and non-enteral feeding (odds ratio 18.27, 95% CI 2.22~150.69) were independent factors of mortality due to anastomotic leakage. CONCLUSION: Our observations show that anastomotic leakage after an elective gastric resection has a high risk of being fatal. Moreover, for a patient with a body-mass index lower than 24 kg/m2 and/or non-enteral feeding, an anastomotic leakage after an elective gastric resection has a higher risk of being fatal.
Adenocarcinoma* ; Anastomotic Leak* ; Drainage ; Enteral Nutrition ; Gastrectomy* ; Gastric Bypass ; Gastrointestinal Tract ; Humans ; Mortality ; Multivariate Analysis ; Retrospective Studies ; Stomach ; Stomach Neoplasms

The schwannoma is a benign neoplasm originating from Schwann cell. Solitary nerve sheath tumors such as benign schwannomas arising in the pelvic retroperitoneum are infrequently reported. Those tumors can indeed be misdiagnosed for other more common conditions both clinically and instrumentally. We report a very rare case of a benign retroperitoneal pelvic schwannoma of the obturator fossa, which was incidentally found and misdiagnosed as adnexal mass preoperatively in fifty one-years-old postmenopausal women.
Female ; Humans ; Nerve Sheath Neoplasms ; Neurilemmoma*

The syndrome of inappropriate ADH secretion is a disorder characterized by hyponatremia which results from water retention attributable to ADH release. The hallmark of SIADH is hyponatremia due to water retention, in the presence of urinary osmolality above plasma osmolality. The SIADH was initially described by Schwartz et al (1957). This syndrome, first recognized in patients with bronchogenic carcinoma, has now been observed in a variety of other illnesses. Recently, we encountered a 59 year-old female with small cell lung cancer, also she had SIADH. Thus, we present a case and review the literature on the subject.
Carcinoma, Bronchogenic ; Female ; Humans ; Hyponatremia ; Inappropriate ADH Syndrome* ; Osmolar Concentration ; Plasma ; Small Cell Lung Carcinoma* ; Water

No abstract available.
Humans ; Thyroid Diseases* ; Thyroid Gland*

Fibromatosis of the breast is a rare tumor. We describe here a case of mammary fibromatosis in a 37-year-old woman. The mass from the right breast was 3 cm at the greatest dimension. The lesion was poorly circumscribed, firm and white-gray on the cut surface. Histologically, the lesion infiltrated into the lobules of the breast, and the tumor was composed of relatively uniform fibroblasts and collagen. Neither mitotic activity nor cellular atypia was seen. On the immunohistochemistry, the cells were positive for vimentin and they were focally positive for smooth muscle actin. Staining results for estrogen receptor and progesterone receptor were negative.
Actins ; Adult ; Breast Neoplasms ; Breast* ; Collagen ; Estrogens ; Female ; Fibroblasts ; Fibroma* ; Humans ; Immunohistochemistry ; Muscle, Smooth ; Receptors, Progesterone ; Vimentin

BACKGROUND: We evaluated the antihypertensive effect, safety and effect on serum lipids of terazosin, second generation alpha1-blocker. METHODS: Terazosin 1-4mg was adminstered once daily in 20 patients for 12 weeks with dose titration every 2 weeks. RESULTS: 1) The systolic and diastolic blood pressure were decreased from 170.0+/-13.0/104.0+/-6.0mmHg to 144.0+/-13.3/88.0+/-5.6mmHg(p<0.01), but the heart rate and body weight were independant of terazosin administration. 2) Total cholesterol was decreased significantly from 209.9+/-33.5mg/dL to 194.6+/-30.1mg/dL after 12 weeks treatment(p<0.05), triglyceride was decreased significantly from 185.4+/-37.0mg/dL to 168.9+/-35.0mg/dL(p<0.05). and LDL-cholesterol was decreased significantly from 134.5+/-31.9mg/dL to 122.7+/-29.9mg/dL(p<0.05), but HDL-cholesterol was increased significantly from 37.8+/-5.6mg/dL to 40.6+/-5.5mg/dL(p<0.05). 3) The adverse effects of terazosin were dizziness in 2, headache in 2, asthenia in 1, peripheral edema in 1 and skin rash in 1 patient, but were not troublesome enough to stop medication. CONCLUSIONS: Terazosin 1-4mg once daily regimen was effective and safe as an antihypertensive agent, and moreover terazosin has favorable effects on serum lipids.
Asthenia ; Blood Pressure* ; Body Weight ; Cholesterol ; Dizziness ; Edema ; Exanthema ; Headache ; Heart Rate ; Humans ; Hypertension* ; Triglycerides