Miller-Dieter syndrome consists of severe type I lissencephaly, abnormal facial appearance, and sometimes other birth defects. Lissencephaly is a brain malformation manifested by a smooth cerebral surface, thickened cortical mantle, and microscopic evidence of incomplete neuronal migration. It comprises the agyria-pachygyria spectrum of malformation, thus excluding polymicrogyria and other cortical dysplasia. Type I lissencephaly results from abnormal migration between about 10 and 14 weeks gestaion. The brain is often small, and the ventricle is enlarged posteriorly The corpus callosum may be small or absent. The structural pattern of the cerebral hemispheres and ventricles is distintly immature, reminiscent of fetal brain. The superficial cellular layer resembles an immature cortex, with some separation into zones similar to layers III, V, and VI of normal cortex, although the cell population is decreased. In 1963 Miller described a malformation syndrome in a brother and sister with postnatal growth deficiency, craniofacial defects, and serious abnormalities of neurologic function. Autopsy at 3 and 4month of age, respectively, revealed lissencephaly. Subsequently, Dieker reported four additional patients with this disorder and referred to it as the 'lissencephaly syndrome'. We have experienced a case with this syndrome. Then we report this rare case with brief review of literature.
Autopsy ; Brain ; Cerebrum ; Congenital Abnormalities ; Corpus Callosum ; Humans ; Lissencephaly ; Malformations of Cortical Development ; Neurons ; Siblings

PURPOSE: To evaluate the merits of this technique and to provide a standard for comparison with futuretreatment alternatives. MATERIALS AND METHODS: We retrospectively reviewed the records of 52 patients withdirect CCF treated at the Yonsei Medical Center between 1983 and 1997 by transarterial or transvenous embolizationusing detachable balloon(s) and/or coils. RESULTS: Among the 52 cases, 51 were traumatic in origin, while onlyone was the result of a ruptured aneurysm. The three most common presentations were chemosis, bruit, andpulsatile proptosis. Forty-five patients were successfully treated with detachable balloon(s) and/or coils andinternal carotid blood flow was preserved in 35. When coils were used (1993-7), the ICA preservation rate washigher than when they were not used (1983-92). To confirm statistical significance, however, more studies areneeded. Four patients who initially presented with incomplete occlusion showed spontaneous occlusion on follow upangiography. In two patients, surgical ligation was performed because embolization failed and there was incompleteocclusion of the fistula. We experienced complications such as transient 3rd and 6th cranial nerve palsy,migration of deflated balloons and coils to the lung, and loss of vision. CONCLUSION: Transarterial andtransvenous embolization with detachable balloon(s) and/or coils provides a high rate of fistula obliteration withlow morbidity. In particular, the use of coils led to an increased rate of ICA preservation, thus and isconsidered as a good treatment modality for CCF obliteration.
Aneurysm, Ruptured ; Cranial Nerves ; Exophthalmos ; Fistula* ; Humans ; Ligation ; Lung ; Retrospective Studies

OBJECTIVE: Thoracoscopic spinal surgery provides minimally invasive approaches for effective vertebral decompression and reconstruction of the thoracic and thoracolumbar spine, while surgery related morbidity can be significantly lowered. This study analyzes clinical results of thoracoscopic spinal surgery performed at our institute. METHODS: Twenty consecutive patients underwent video-assisted thoracosopic surgery (VATS) to treat various thoracic and thoracolumbar pathologies from April 2000 to July 2006. The lesions consisted of spinal trauma (13 cases), thoracic disc herniation (4 cases), tuberculous spondylitis (1 case), post-operative thoracolumbar kyphosis (1 case) and thoracic tumor (1 case). The level of operation included upper thoracic lesions (3 cases), midthoracic lesions (6 cases) and thoracolumbar lesions (11 cases). We classified the procedure into three groups: stand-alone thoracoscopic discectomy (3 cases), thoracoscopic fusion (11 cases) and video assisted mini-thoracotomy (6 cases). RESULTS: Analysis on the Frankel performance scale in spinal trauma patients (13 cases), showed a total of 7 patients who had neurological impairment preoperatively : Grade D (2 cases), Grade C (2 cases), Grade B (1 case), and Grade A (2 cases). Four patients were neurologically improved postoperatively, two patients were improved from C to E, one improved from grade D to E and one improved from grade B to grade D. The preoperative Cobb's and kyphotic angle were measured in spinal trauma patients and were 18.9+/-4.4 degrees and 18.8+/-4.6 degrees, respectively. Postoperatively, the angles showed statistically significant improvement, 15.1+/-3.7 degrees and 11.3+/-2.4 degrees, respectively (P<0.001). CONCLUSION: Although VATS requires a steep learning curve, it is an effective and minimally invasive procedure which provides biomechanical stability in terms of anterior column decompression and reconstruction for anterior load bearing, and preservation of intercostal muscles and diaphragm.
Decompression ; Diaphragm ; Diskectomy ; Humans ; Intercostal Muscles ; Kyphosis ; Learning Curve ; Pathology* ; Spinal Fractures ; Spinal Fusion ; Spine ; Spondylitis ; Thoracic Surgery, Video-Assisted ; Weight-Bearing

Acalculous cholecystitis is an inflammation of the gallbladder in the absence of gallstones. Diagnosing this condition is often difficult because of the patient's debilitated medical condition and because of the limitation of biliary imaging technique. Nonetheless, its recognition and therapy are critically important, for if left untreated, many patients will die. During 10 years and 6 months from January 1986 to June 1996, 52 patients underwent assessment and treatment for acalculous cholecystitis at the Department of Surgery, Kyungpook National University Hospital. A clinical analysis of those patients was done and the following results were obtained: The incidence rate was 3.5%. The most prevalent age group was the seventh decade (13cases), and the male-to-female ratio was 1.4 : 1. Possible etiologic factors were found in 25 cases (48.1%). These factors were surgery in 5 cases (9.6%), trauma in 5 cases (9.6%), sepsis in 5 cases (9.6%), clonorchiasis in 5 cases (9.6%), and others in 5 cases(9.6%). Neither Ascariasis nor Salmonellosis was found as a predisposing factor in this study.The main cardinal symptoms and physical signs were similar to those of calculous cholecystitis. The sensitivities of diagnostic imaging by ultrasonography and computed tomography were 88.4% and 100%, respectively. Of the 52 patients, 46 cases underwent cholecystectomy, and 6 cases were initially treated by percutaneous transhepatic cholecystostomy. Of these 6 cases, two patients had cholecystostomies during subsequent abdominal operations for other conditions. Two patients had the cholecystostomy tube removed 2 months after an uneventful recovery and have had no further biliary problems. The other two patients died. The operative findings were cholecystitis only in 26 cases (56.5%), cholecystitis with localized peritonitis in 18 cases (39.1%), and cholecystitis with generalized peritonitis in 2 cases (4.3%). Postoperative complications occurred in 16 cases (34.8%), and wound infection was the most common complication (62.5% of all complications).The overall mortality was 9.6%. Conclusively, acalculous cholecystitis had high morbidity and mortality in this study. Once the diagnosis of acalculous cholecystitis is made, the gallbladder should be drained or removed. A decision as to the best approach depends on the specific situation and will require close cooperation between the internist, the surgeon, and the radiologist.
Acalculous Cholecystitis* ; Ascariasis ; Causality ; Cholecystectomy ; Cholecystitis ; Cholecystostomy ; Clonorchiasis ; Diagnosis ; Diagnostic Imaging ; Gallbladder ; Gallstones ; Gyeongsangbuk-do ; Humans ; Incidence ; Inflammation ; Mortality ; Peritonitis ; Postoperative Complications ; Salmonella Infections ; Sepsis ; Ultrasonography ; Wound Infection

Abdominal cocoon is a rare disease of the peritoneum and almost invariably presents as an acute or subacute intestinal obstruction with or without a mass. The etiology of this disease is largely unknown and abdominal cocoon of unknown etiology has been limited to the tropical and subtropical zones and primarily affects young adolescent females. In the temperate zone, only one case has been reported from the United Kingdom, but the patient was also born in Pakistan. No case of abdominal cocoon purely developed in the temperate zone has been reported. Recently, we experienced a case of abdominal cocoon in a 34-year-old female patient(Korean) who had never been abroad. The diagnosis was made postoperatively by reviewing the literature. We herein report this rare condition developed in an unusual geographical location with a brief review of the literature.
Adolescent ; Adult ; Case Report ; Female ; Human ; Intestinal Obstruction/*etiology ; Male ; Peritoneal Diseases/complications/*etiology

We recently experienced a case of spontaneous perforation of infected necrosis into the colon and duodenum during the course of acute pancreatitis in a 63 year-old male patient. Enteric perforations or fistulas in the setting of acute pancreatitis implicate severe underlying pathology and have substantial morbidity and mortality. In the meantime it has generally been accepted that infected pancreatic or peripancreatic necrosis should be managed surgically as soon as possible. Enteric perforations in the present case contributed to transient improvement of the patient's infection sign and condition, and thus an early operation was able to be avoided. Delayed surgical management resulted in complete recovery of the patient without postoperative morbidity. Herein we report an unusual complication of acute pancreatitis.
Acute Disease ; Case Report ; Human ; Intestinal Perforation/*etiology ; Male ; Middle Age ; Pancreatitis/*complications

OBJECTIVE: To analyze cytogenetic results of prenatal genetic amniocentesis. METHODS: From January 1997 to December 2000, We analyzed 1,390 cases of midtrimester amniocentesis which were done at Gil medical center of Gachon medical school according to its indications and maternal age. RESULTS: Chromosomal aberrations were found in 88 cases (6.3%). Of all our chromosomal aberrations, 29 cases (2.1%) of normal variants and 59 cases (4.2%) of abnormal karyotypes were found. 37 cases of autosomal numerical abnormal karyotypes and 7 cases of sex chromosomal abnormal karyotypes were diagnosed. In abnormal karyotype group, the incidence was high after 40 years of maternal age and in abnormal ultrasound findings, but no such correlations were found in normal variant group. CONCLUSION: In analysis of midtrimester amniocentesis, it would be better to analyze separately abnormal karyotype group and normal variant group.
Abnormal Karyotype ; Amniocentesis ; Amniotic Fluid* ; Chromosome Aberrations* ; Cytogenetics* ; Female ; Humans ; Incidence ; Maternal Age ; Pregnancy ; Pregnancy Trimester, Second* ; Schools, Medical ; Ultrasonography

OBJECTIVE: The aim of this study was to evaluate the peripartum efficiency of amnioinfusion in oligohydramnios without preterm premature rupture of membrane. METHODS: 73 singleton pregnant women with oligohydramnios were enrolled in this study. Women with preterm premature rupture of membrane were excluded. 21 women were treated with transabdominal amnioinfusion 31 times and 52 women were closely observed without amnioinfusion. Mean amniotic fluid index, mean gestational age, mean maternal age and the parity at the time of diagnosis was not statistically different in both groups. RESULTS: Mean amounts of infused artificial amniotic fluid was 536ml (200-700), the mean time consumed was 61(+/-39.2)min. After infusion, mean amniotic fluid index was increased significantly from 4.2(+/-1.6) to 10.0(+/-2.9). But we found no statistically significant differences in pregnancy outcomes. The outcomes are as follows 1)Mean gestational age at birth was 36.3(+/-3.5) weeks in amnioinfusion group and 37.2(+/-2.9) weeks in control group. 2) Mean birth weight was 2.54(+/-0.9)kg versus 2.51(+/-0.8)kg. 3) The proportions of poor Apgar score at 1 minute and 5 minute were not significantly different. 4) Cesarean section rate was 0.79 versus 0.65. 5.There were two still births in both groups. CONCLUSION: Transabdominal amnioinfusion in oligohydramnios has little effects in improving longterm pregnancy outcomes.
Amniotic Fluid ; Apgar Score ; Birth Weight ; Cesarean Section ; Diagnosis ; Female ; Gestational Age ; Humans ; Maternal Age ; Membranes* ; Oligohydramnios* ; Parity ; Parturition ; Peripartum Period* ; Pregnancy ; Pregnancy Outcome ; Pregnant Women ; Prognosis* ; Rupture*

Mediastinal tuberculous lymphadenitis is rare in adults, and it is even rarer for dysphagia to be the presenting symptom of mediastinal tuberculous lymphadenitis. Mediastinal tuberculous lymphadenitis with esophageal symptoms has been presented as esophageal ulceration, mucosal or submucosal mass with ulceration, fistula or sinus formation, extrinsic compression, or displacement of the esophagus. An exaggerated form of extrinsic compression may be presented as a submucosal tumor, radiologically or endoscopically. A barium esophagography of a 34 year-old woman with painful dysphagia revealed a large submucosal tumor-like mass on the mid-esophagus. The symptom was spontaneously improved over a 3-week period together with reduction of the mass size. A computed tomography of the chest disclosed an enlarged subcarinal lymph node and histologic examination of the specimen obtained by thoracoscopic biopsy brought about a diagnosis of tuberculosis. We herein report a case of mediastinal tuberculosis with unusual manifestations.
Adult ; Case Report ; Deglutition Disorders/*etiology ; Diagnosis, Differential ; Esophageal Neoplasms/*diagnosis ; Esophagoscopy ; Esophagus/pathology/radiography ; Female ; Human ; Mediastinal Diseases/*complications/*diagnosis ; Radiography, Thoracic ; Tomography, X-Ray Computed ; Tuberculosis, Lymph Node/*complications/*diagnosis

PURPOSE: Children with developmental language disorder occupy considerable health care resources, particularly in the preschool ages. The exact size of problem for health planning remains somewhat problematic, as differences in reported estimates of prevalencies reflect the range of definitions used. In this study, we evaluated the clinical features of children with developmental language disorder and examined effctiveness of the Gesell Screening Inventory and REEL scale to assess language development. METHODS: The 171 children were involved in the study, they were referred to Child Development Clinic in Kangnam St. Mary's Hospital for evaluation of suspected language problem. Among the children, 75 cases between 15 and 54 months of age were included as developmental language disorder in this study. RESULTS: 1) The mean age of subjects was 31.4 months and the ratio of male to female was 6.5:1. 2) The mean gestational age of the subjects was 38.8 weeks. The proportion of full-term infants was 82.7% and the one of premature infants was 17.3%. 3) According to the birth ordering history, the proportion of the first baby was 82.7%, the one of second baby was 13.3% and the one of third baby was 4%. 4) Ten children had been checked up the MRI, four of them had abnormal findings, 23 children had been checked up the EEG and two of them showed abnormal findings. 5) The mean age of first spontaneous word with used meaning was 13.8 months. 6) According to the Gesell Screening Inventory, the proportion of children who had less than DQ 70 had showed 4% in motor sector, 17% in adaptive sector, 66.7% in laguage sector and 33.3% in personal social sector. 7) According to the REEL Scale, the proportion of children who had less DQ 70 had showed 70.7% of in receptive language sector and 90.7% in expressive language sector. 8) The proportion of the children who had been maintaining language disorder was 17.3% and that of those who showed normal linguistic development was 82.7% on the follow-up test 6 months later. CONCLUSION: The large proportion of the children who had language delay was developmental language disorder without organic problem. Most of them showed symptom improvement on the follow up test 6 months later.
Child Development ; Child* ; Delivery of Health Care ; Electroencephalography ; Female ; Follow-Up Studies ; Gestational Age ; Health Planning ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Language Development ; Language Development Disorders* ; Language Disorders ; Linguistics ; Magnetic Resonance Imaging ; Male ; Mass Screening ; Parturition