Cerebral venous sinus thrombosis and acute renal failure are well known cornplications of paroxysmal nocturnal hemoglobinuria(PNH). 53 year old rnan was admitted to the hospital because of headache and gerleralized convulsion. Contrast enharlced CT scan revealed empty delta sign in superior sagital sinus and acute renal failure developed within 2 weeks of admissiorL The diagnosis of PNH depended on positive HAM test and low leukocyte alkaline phosphatase(LAP). The prognosis was relativley good on the treatrnent with anticoagulant, anticonvulsant, antiplatelets and steroid.
Acute Kidney Injury* ; Diagnosis ; Headache ; Hemoglobinuria, Paroxysmal* ; Humans ; Leukocytes ; Middle Aged ; Prognosis ; Seizures ; Sinus Thrombosis, Intracranial* ; Tomography, X-Ray Computed

This study was designed to evaluate the clinical manifestations and results of operative treatment in penile injury during erection. We reviewed 18 cases of penile injury during erection from December 1992 to June 1996. Of 18 patients, 14 patients were treated with early operation, 3 patients with conservative treatment and followup was 1 to 31 months (mean: 14.1 months). Patients age ranged from 23-76 years old (mean: 39.6 years), common cause of the injury was sexual intercourse (8 cases), masturbation (3 cases) and finger-pressure (2 cases) in order. Of 8 patients who occurred during sexual intercourse, 7 patients were married. The injury developed at midnight in 8 cases (44%), early morning in 7 cases (39%) and the other times in 3 cases (~7%). Of 14 patients who received with early operation, 13 patients revealed rapture of the corpus cavernosum and 1 patient revealed rupture of superficial dorsal vein. The site of penile fracture showed proximal shaft in 8 cases (62%), midshaft in 3 cases (23%) and distal shaft in 2 cases (15%) in order. The overall complication rate of early operative treatment was 15% (2 of 13 cases) compared to a complication rate of 100% (2 of 2 cases) for conservative treatment. In conclusion, our experience demonstrates that the most common cause and site of penile injury are sexual intercourse and proximal shaft, early operative treatment would be an effective treatment of penile injury to prevent complications.
Coitus ; Follow-Up Studies ; Humans ; Masturbation ; Rupture ; Veins

Some sexual differentiation disorders are associated with gonadal neoplasia and increased incidence of testicular tumors has been discribed in the patients with, XY gonadal dysgenesis. The incidence of testicular tumors in infants and children are rare, representing only 1% of all pediatric solid tumors. In general, gonadal stromal tumors are one of the most characteristic endocrine tumors of the testis, endocrine activity occurs in at least 10-20%, among them Leydig cell tumors and Sertoli cell tumors are clinically important. Although the exact pathogenesis is unknown, endocrine activity due to estrogen secretion can be manifested clinically with gynecomastia or precocious puberty. We experienced and reported a child who visited for sexual precocity and had XY gonadal dysgenesis with Sertoli cell tumor.
Child ; Disorders of Sex Development ; Estrogens ; Gonadal Dysgenesis ; Gonads ; Gynecomastia ; Humans ; Incidence ; Infant ; Leydig Cell Tumor ; Male ; Puberty, Precocious ; Sertoli Cell Tumor* ; Testicular Neoplasms ; Testis

BACKGROUND: Recently, serologic techniques for tuberculosis have been developed and some of them, which are focusing on detection of serum antibodies mainly directed against specific 38-kDa Mycobacterium tuberculosis, have already been introduced into the market. In this study, diagnostic significance of a new serologic test(ELISA kit) for pulmonary tuberculosis was evaluated. METHODS: Serologic test with newly developed ELISA kit was performed upon 474 individuals, who include 333 active pulmonary tuberculosis patients, 80 healthy cases, and 61 tuberculosis contact cases. This serologic test was based on the ELISA technique and designed to detect antibodies to mixed complex antigens including 38-kDa, which were developed by Erume Biotech Co.,Seoul.Active pulmonary tuberculosis was diagnosed by sputum AFB smear and culture methods. RESULTS: The seropositivities using this ELISA kit were 82.1% and 73.6% in smear-positive and negative groups among active pulmonary tuberculosis, respectively. And, it also showed that seronegativities were 97.5% and 85.2% in healthy and contact groups, respectively. As a whole, the results of our study suing the ELISA kit as a diagnostic methiod for pulmonary tuberculosis showed 80.0% sensitivity for active pulmonary tuberculosis, 97.5% specificity, 96.1% positive predictive value, and 65.0% negative predictive value when the prevalence of tuberculosis in the samples was 60.1%. CONCLUSION: Our results reveal that the detection of antibody its reaction with 38-kDa antigen of M.tuberculosis is not sufficient to be accepted as single diagnostic method for pulmonary tuberculosis. However, they suggest that ELISA kit may be considered as an adjunctive test to standard diagnostic techniques of pulmonary tuberculosis.
Antibodies ; Enzyme-Linked Immunosorbent Assay* ; Humans ; Mycobacterium tuberculosis* ; Mycobacterium* ; Prevalence ; Sensitivity and Specificity ; Serologic Tests* ; Sputum ; Tuberculosis ; Tuberculosis, Pulmonary*

Neonatal diabetes mellitus (NDM) is defined as hyperglycemia that presents clinical symptoms within the first month of life and requires insulin therapy to maintain euglycemia. The diabetic condition may be transient, permanent, or transient with recurrence later in life. NDM is a rare clinical disorder. Three cases of NDM have been reported in Korea so far. We experienced two cases of NDM in twin brothers who were born with small for gestational ages. Their HLA typings were DR9 and DR14, and insulin autoantibody, islet cell antibody, GAD-reactive autoantibody, and insulin receptor antibody were not found. The genetic analysis with polymorphic DNA markers for chromosome 6 indicated paternal uniparental isodisomy.
Chromosomes, Human, Pair 6 ; Diabetes Mellitus* ; Genetic Markers ; Gestational Age ; Histocompatibility Testing ; Humans ; Hyperglycemia ; Insulin ; Islets of Langerhans ; Korea ; Receptor, Insulin ; Recurrence ; Siblings* ; Twins* ; Uniparental Disomy

PURPOSE: Complete resection of the tumor nodule(mural nodule or solid portion of the tumor) is the essential goal of surgical treatment for heman-gioblastoma. The purpose of this study was to classify the morphologic types of intracranial hemangioblastoma on MRI and to compare the location and contour of tumor nodule on MRI with those on angiography. MATERIALS AND METHODS: The MRI findings of 34 lesions(38 lesions if 4 spinal cord lesions were included) in 26 patients(17 males and 9 females, range of age, 18-67 years, mean, 39 years) with surgically and histopathologically proved intracranial hemangioblastomas were reviewed. Seventeen patients underwent CT scanning in a short interval. Contrast-enahnced T1 -weighted imaging pa- tterns of hemangioblastoma were classified according to Ho's morphologic types. The location and contour of tumor nodule were compared between MRI and angiography in 15 patients(24 lesions). RESULTS: By location, cerebellar hemisphere was predominated(55%), followed by cerebellar vermis(26%), supratentorial region(5%), and medulla oblongata (3%). Spinal cord lesions(11%) were seen in 3 patients of 5 von HippeI-Lindau diseases. The frequency of morphologic types was as follows; Type 1 (purely cystic), 3%, Type 2(mural nodule), 50%, Type 3(cyst with wall enhancement), 3%, Type 4 (cystic nodule), 15%, Type 5(solid with internal cyst), 9%, and Type 6(solid), 20%. All tumor nodules(33 lesions) enhanced intensely with intravenous contrast material on MRI, of which 24 lesions(in 15 patients) revealed hypervascular masses fed by pial arteries on angiography. They were superficial and abutted pia mater partially or in large portion on both MR I and angiography. CONCLUSION: Over 70% of intracranial hemangioblastomas had a surrounding cyst, and superficial, pial-based location and number of the tumor nodules on MRI was correlated well with those on angiography. MRI is the examination of choice for preoperative evaluation of intracranial hemangioblastoma.
Angiography ; Arteries ; Female ; Hemangioblastoma* ; Humans ; Magnetic Resonance Imaging* ; Male ; Medulla Oblongata ; Pia Mater ; Spinal Cord ; Tomography, X-Ray Computed

PURPOSE:There are some cases of false positive in neonatal screening for congenital adrenal hyperplasia. To understand its significance of the increased 17 alpha-hydroxyprogesterone(17 alpha-OHP) levels in the cases of positive result, we followed its levels during infancy. METHODS:From July 1997 to June 1998, totally 1,730 babies were screened for congenital adrenal hyperplasia(CAH) measuring 17 alpha-hydroxyprogesterone(17 alpha- OHP) using an enzyme immunoassay(EIA) on dried blood spots. In infants of positive result, the radioimmunoassay(RIA) was used measuring 17 alpha-OHP in serum. And we followed up the levels of 17 alpha-OHP during infancy. Cortisol and ACTH were also measured and followed up in the morning simultaneously. RESULTS:No CAH was detected during the study period. With the 13 ng/mL cutoff limit for 17 alpha-OHP before March 1998, the recall rate was 3.09%. With the 20 ng/mL cutoff limit after March 1998, the recall rate was decreased to 1.58%. Follow-up of the high levels of 17 alpha-OHP in positive cases showed a sharply decreased curve according to age. CONCLUSION: In clinically normal neonates, the high levels of 17 alpha-OHP at screening decreased continuously during infancy.
17-alpha-Hydroxyprogesterone* ; Adrenal Hyperplasia, Congenital ; Adrenocorticotropic Hormone ; Follow-Up Studies ; Humans ; Hydrocortisone ; Infant ; Infant, Newborn ; Mass Screening ; Neonatal Screening*

PURPOSE:There are some cases of false positive in neonatal screening for congenital adrenal hyperplasia. To understand its significance of the increased 17 alpha-hydroxyprogesterone(17 alpha-OHP) levels in the cases of positive result, we followed its levels during infancy. METHODS:From July 1997 to June 1998, totally 1,730 babies were screened for congenital adrenal hyperplasia(CAH) measuring 17 alpha-hydroxyprogesterone(17 alpha- OHP) using an enzyme immunoassay(EIA) on dried blood spots. In infants of positive result, the radioimmunoassay(RIA) was used measuring 17 alpha-OHP in serum. And we followed up the levels of 17 alpha-OHP during infancy. Cortisol and ACTH were also measured and followed up in the morning simultaneously. RESULTS:No CAH was detected during the study period. With the 13 ng/mL cutoff limit for 17 alpha-OHP before March 1998, the recall rate was 3.09%. With the 20 ng/mL cutoff limit after March 1998, the recall rate was decreased to 1.58%. Follow-up of the high levels of 17 alpha-OHP in positive cases showed a sharply decreased curve according to age. CONCLUSION: In clinically normal neonates, the high levels of 17 alpha-OHP at screening decreased continuously during infancy.
17-alpha-Hydroxyprogesterone* ; Adrenal Hyperplasia, Congenital ; Adrenocorticotropic Hormone ; Follow-Up Studies ; Humans ; Hydrocortisone ; Infant ; Infant, Newborn ; Mass Screening ; Neonatal Screening*

Color Doppler ultrasonography and testicular scintigraphy were used to evaluate 43 patients with acute scrotal pain. Color Doppler ultrasonography predicted properly the need of surgery in 5 of 6 patients with testicular torsion but testicular scintigraphy correctly diagnosed all 11 patients with testicular torsion. Color Doppler ultrasonography demonstrated increased epididymal or testicular flow in all 27 patients with acute epididymitis and testicular scintigraphy showed increased uptake in all 7 patients with acute epididymitis. But Color Doppler ultrasonography misdiagnosed 1 patient with testicular torsion as acute epididymitis and testicular scintigraphy misdiagnosed 1 patient with pyocele as testicular torsion. The authors found that the sensitivity and the specificity of color Doppler ultrasonography were 83% and 100% and the sensitivity and the specificity of testicular scintigraphy were 100 % and 89% in the diagnosis of testicular torsion. Color Doppler ultrasonography is as effective as testicular scintigraphy and it is an accurate and rapid diagnostic method in assessing perfusion and anatomy of the acute scrotal lesions.
Diagnosis ; Epididymitis ; Humans ; Male ; Perfusion ; Radionuclide Imaging* ; Scrotum* ; Sensitivity and Specificity ; Spermatic Cord Torsion ; Ultrasonography, Doppler, Color*

Leigh syndrome (LS) is a genetically and clinically heterogeneous disorder caused by metabolic defects affecting lactate/pyruvate metabolism. The consequence of the metabolic defects are decreased amounts of APT and basic cell energy productions of the nervous system. In LS, several mutations have been reported in both the nuclear and the mitochondrial genome. Here, we report a 26-year-old woman clinically diagnosed with LS having characteristic brain MR and MRS abnormalities but without known definite pathogenetic mitochondrial DNA mutations.
Adult ; Brain ; DNA, Mitochondrial ; Female ; Genome, Mitochondrial ; Humans ; Leigh Disease* ; Magnetic Resonance Imaging* ; Metabolism ; Mitochondrial Diseases ; Nervous System