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

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*

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 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*

Chronic granulomatous disease is a group of rare X-1inked or autosomal recessive genetic disorders due to the NADPH oxidase defect, which causes the defect in neutrophil respiratory burst function, the recurrent bacterial and fungal infection, and the granulomatous lesion. This disease can be diagnosed by measuring the decreased neutrophil respiratory burst activity in patient who shows X-linked recessive or autosomal recessive inheritance and the recurrent infection. To measure the neutrophil respiratory burst activity, NBT(nitroblue tetrazolium dye) test has been used. Recently, it has become possible to diagnose the chronic granulomatous disease patient as we1l as the carder simply and rapidly with the f1ow cytometry which measures hydrogen peroxide within the neutrophil, using 2' 7' -dichlorofluorescein diacetate(DCF-DA). We diagnosed two boys with history of recurrent infections and their carrier mothers as X-linked chronic granulomatous disease by f1ow cytometry using DCF-DA, and could follow up neutrophil respiratory burst activity after the administration of interferon gamma(INF-gamma) to these patients.
Flow Cytometry* ; Follow-Up Studies ; Granulomatous Disease, Chronic* ; Humans ; Hydrogen Peroxide ; Interferon-gamma ; Interferons ; Mothers ; NADPH Oxidase ; Neutrophils ; Respiratory Burst ; Wills

BACKGROUND: Coronary artery disease is an important cause of death in adults and stent insertion is one of the treatment modalities. The most severe adverse effect of a stent insertion is the formation of a thrombus; therefore, antiplatelet agents are used. The addition of cilostazol to low-dose aspirin and clopidogrel results in a better antiplatelet effect. However, laboratory tests to monitor the effect of cilostazol are insufficient. METHODS: We tested the inhibitory effect of cilostazol using maximal platelet aggregation in 20 healthy volunteers. Conditions for incubation and concentrations of cilostazol and prostaglandin E1 (PGE1) were established and aggregation was induced by 5'-adenosine diphosphate (ADP) and measured with light transmission aggregometry (LTA). Blood samples were incubated with 1 µM and 2 µM cilostazol for 10 minutes at room temperature, and 80 nM PGE1 was added and incubated for an additional 10 minutes. Aggregation was induced by ADP and reactivity was evaluated. RESULTS: The average maximum aggregation (MA) was 58.1% at 1 µM cilostazol and 22.0% when PGE1 was added. The average MA was 42.8% when cilostazol concentration was increased to 2 µM and 21.2% when PGE1 was added. Average inhibition of aggregation at 1 µM cilostazol was not statistically significant (P=0.085), but was significant (P=0.004) at 2 µM cilostazol. Aggregation was not inhibited even with 2 µM cilostazol and PGE1 in 2 volunteers, which suggests possible resistance to cilostazol. CONCLUSIONS: We designed a method to monitor the effect of cilostazol using in vitro incubation with PGE1.
Adenosine Diphosphate ; Adult ; Alprostadil ; Aspirin ; Cause of Death ; Coronary Artery Disease ; Healthy Volunteers ; Humans ; In Vitro Techniques ; Methods ; Platelet Aggregation ; Platelet Aggregation Inhibitors ; Stents ; Thrombosis ; Volunteers