No abstract available.
Child* ; Down Syndrome* ; Humans ; Hypothyroidism* ; Incidence*

Toxoplasmic encephalitis (TE) is the most common cause of opportunistic central nervous system infection in advanced acquired immunodeficiency syndrome (AIDS) patients. The incidence of TE has fallen markedly after the availability of highly active antiretroviral therapy and cotrimoxazole chemoprophylaxis. TE linked to AIDS is a rare entity in Korea, but we must consider TE in the differential diagnosis of the opportunistic infections in AIDS patients. We report a case of toxoplasmic encephalitis in an advanced AIDS patient presenting as progressive right facial palsy.
Acquired Immunodeficiency Syndrome ; Antiretroviral Therapy, Highly Active ; Central Nervous System Infections ; Chemoprevention ; Diagnosis, Differential ; Encephalitis* ; Facial Paralysis ; Humans ; Incidence ; Korea ; Opportunistic Infections ; Trimethoprim, Sulfamethoxazole Drug Combination

PURPOSE: We have performed this study to obtain reference data for the distribution of chromosomal aberrations in Korea. METHODS: We analyzed 1,180 chromosomal study cases from Kwang ju Christian Hospital during the past 25 years. 756 cases suspected of characteristic chromosomal aberration syndromes and 424 cases with hermaphroditism, mild sexual abnormalities, multiple anomalies, or mental and growth retardation were included. RESULTS: The male to female ratio of autosomal aberration syndromes was 1.2 : 1. 78.6% of autosomal aberrations were diagnosed under 1 year of age, whereas 89.8% of sex chromosomal aberrations were diagnosed over 12 years of age. Among 1,180 cases, 612 ones had chromosomal aberrations(51.9%) : 590 of 756 cases suspected of chromosomal aberration syndromes had aberrations(78.0%), whereas 22 of 424 showing the above other features had aberrations(5.2%). Autosomal aberrations appeared in 514 cases(83.8%) and sex chromosomal aberrations appeared in 98 cases(16.2%). The most frequently observed abberation in autosomal aberrations was Down syndrome, followed by E, D, B, A and C group aberrations. The most common abberation in sex chromosomal aberrations was Turner syndrome, followed by Klinefelter syndrome and Fragile X syndrome. CONCLUSION: It is of vital importance that patients suspected of chromosomal aberrations undergo chromosomal analysis. Further advanced chromosomal staining and molecular genetic methods will raise the detection rate of chromosomal aberrations.
Abnormalities, Multiple ; Chromosome Aberrations* ; Disorders of Sex Development ; Down Syndrome ; Female ; Fragile X Syndrome ; Gwangju ; Humans ; Klinefelter Syndrome ; Korea ; Male ; Molecular Biology ; Turner Syndrome

Progressive transformation of germinal centers (PTGC) is an atypical feature seen in lymph nodes with unknown pathogenesis. PTGC most commonly presents in adolescent and young adult males as solitary painless lymphadenopathy with various durations. Cervical nodes are the most commonly involved ones while involvements of axillary and inguinal nodes are less frequent. PTGC develops extremely rarely in other locations. We report a rare case of solitary mass present in the presacral space. The mass as subsequently proven to be PTGC. To the best of our knowledge, PTGC in the presacral space has not been previously reported in the literature.
Adolescent ; Germinal Center* ; Humans ; Lymph Nodes ; Lymphatic Diseases ; Magnetic Resonance Imaging* ; Male ; Young Adult

Most submucosal tumors of the stomach are of mesenchymal origin. Gastric schwannoma, which is a subset of mesenchymal tumors, is a rare tumor taking origin from Schwann's cells. A 61-year-old woman whose endoscopy showed a well circumscribed submucosal mass measuring 2.5 cm on the midbody of the stomach. Endosonographically, the tumor was well circumscribed, low echoic submucosal mass with cystic lesion in the 4th layer of the gastric wall. The patient underwent wedge resection. Microscopically, the cells were made up of irregular fasciculating bundles of spindle cells featured with benign nuclear atypia and peripheral lymphoid cell cuffing, involving muscularis propria. Immunohistochemical staining showed positivity for S-100 protein and the neuron-specific enolase, but were negative to CD 34, desmin and smooth muscle actin. From these findings, this tumor was diagnosed as a schwannoma.
Actins ; Desmin ; Endoscopy ; Female ; Humans ; Lymphocytes ; Middle Aged ; Muscle, Smooth ; Neurilemmoma* ; Phosphopyruvate Hydratase ; S100 Proteins ; Stomach

Schwannoma is a benign nerve sheath tumor that involves Schwann cells mostly found in the head, neck, posterior mediastinum and extremities. Schwannoma develops rarely in the retroperitoneum; thus, renal schwannoma is extremely uncommon. Differentiation of renal schwannoma from renal cell carcinoma is difficult with radiologic analysis. A few cases of these tumors have been reported in literature, and little has been described regarding imaging appearances. In this study, we present a rare case of a renal schwannoma, resembling renal cell carcinoma, with radiological correlations.

Gastrointestinal tract involvement in undifferentiated pleomorphic sarcoma (UPS) is extremely rare. To the authors' knowledge, only 21 cases of primary small bowel UPS have been reported in the literature available in English. Reported CT findings in primary small bowel UPS have been nonspecific, and MRI findings have been reported in only one case. The present article describes a case involving a 72-year-old male with histologically confirmed primary UPS arising from the ileum, focusing on both CT and magnetic resonance enterography findings. On CT, primary small bowel UPS was noted as a heterogeneously enhanced small bowel mass without obstruction. Magnetic resonance enterography revealed heterogeneous intermediate T1 and T2 signal intensity, with hemorrhagic or necrotic foci within the mass and heterogeneous enhancement. The differential diagnosis included malignant gastrointestinal tumor; however, the prognosis of UPS is worse, with higher incidences of extra-abdominal metastasis.

Primary gastrointestinal lymphomas originating from the mucosa-associated lymphoid tissue (MALT) have been reported with increasing frequency. The stomach is the most frequent site of MALT lymphoma, and a relationship with Helicobacter pylori infection has been studied. However, primary MALT lymphoma arising from the ampulla of Vater is extremely rare, and its relationship with Helicobacter pylori infection is still obscure. We report here a case of a 71-year-old man with marginal zone B cell lymphoma of MALT with large B cell lymphoma of the ampulla of Vater that was not associated with Helicobacter pylori. A pancreaticoduodenectomy was performed, and the pathologic examination of the resected specimen confirmed the diagnosis. The patient tolerated just one course of systemic chemotherapy, but has been doing well for 18 months after surgery.
Aged ; Ampulla of Vater* ; Diagnosis ; Drug Therapy ; Helicobacter pylori ; Humans ; Lymphoid Tissue ; Lymphoma ; Lymphoma, B-Cell ; Lymphoma, B-Cell, Marginal Zone ; Pancreaticoduodenectomy ; Stomach

Gastrointestinal stromal tumors (GIST) form a group of uncommon neoplasms originated from the pleuripotential mesenchymal cell. There is no final conclusion about accurate diagnosis and prognostic factors of GIST. Clinical presentation is not specific and intraperitoneal bleeding is a very rare complication. We report a case of a malignant GIST complicated by intraperitoneal hemorrhage, which was diagnosed by abdominal CT and EUS before operation. A subtotal gastrectomy was perfomed without complication. The patient is still alive without recurrence.
Diagnosis ; Gastrectomy ; Gastrointestinal Stromal Tumors* ; Hemoperitoneum* ; Hemorrhage ; Humans ; Recurrence ; Rupture* ; Stomach* ; Tomography, X-Ray Computed

Gastrointestinal stromal tumors (GIST) form a group of uncommon neoplasms originated from the pleuripotential mesenchymal cell. There is no final conclusion about accurate diagnosis and prognostic factors of GIST. Clinical presentation is not specific and intraperitoneal bleeding is a very rare complication. We report a case of a malignant GIST complicated by intraperitoneal hemorrhage, which was diagnosed by abdominal CT and EUS before operation. A subtotal gastrectomy was perfomed without complication. The patient is still alive without recurrence.
Diagnosis ; Gastrectomy ; Gastrointestinal Stromal Tumors* ; Hemoperitoneum* ; Hemorrhage ; Humans ; Recurrence ; Rupture* ; Stomach* ; Tomography, X-Ray Computed