Autoimmune hepatitis is defined as an unresolving, predominantly periportal hepatitis of unknown etiology, usually with hypergammaglobulinemia and tissue autoantibodies, which is responsive to immunosuppressive therapy. Clinical manifestations, diagnostic criteria, differential diagnosis and treatment guideline have been described. In Korea the prevalence of autoimmune hepatitis seemed to be lower than that in western countries, but clinical features were similar, except for more severe female preponderance. According to recent clinical survey, mean age is 47.8, and MF ratio is 9:1. Mostly type 1, and had cirrhosis in 22% at the time of diagnosis. 16% of patients had associated immunologic disorders. The diagnosis is definite is 47.3%, and probable in 51.3%. 72% were treated with immunosuppressive therapy with remission rate of 70%. To understand the clinical features of autoimmune hepatitis adquately, nationalwide prospective clinical and epidemiological studies are needed urgently.
Autoantibodies ; Diagnosis ; Diagnosis, Differential ; Female ; Fibrosis ; Hepatitis ; Hepatitis, Autoimmune* ; Humans ; Hypergammaglobulinemia ; Korea ; Prevalence

Eosinophilic fasciitis is a rare disorder which can markedly affect the quality of life in individual patients by disabling joint mobility. Eosinophilic fasciitis causes symmetrical pain, swelling and contracture of the extremities. A definite diagnosis of eosinophilic fasciitis is usually based on histopathologic examination. Hematologically, patients with this disease often have hypergammaglobulinemia and eosinophilia. However, these abnormalities are not specific to this disease and do not correlate with the severity of eosinophilic fasciitis. Although this disease shows good response to systemic steroids, no generally accepted and effective treatment modality has been available. Physical treatment of contracture includes passive, active assistive and active ROM, depending on the condition of the patient, usually after the application of deep or superficial heat. Therapeutic ultrasound is commonly used for contracture. We encountered a case of rehabilitation for an eosinophilic fasciitis localized on the left lower extremity.
Contracture ; Diagnosis ; Eosinophilia ; Eosinophils* ; Extremities ; Fasciitis* ; Hot Temperature ; Humans ; Hypergammaglobulinemia ; Joints ; Lower Extremity* ; Quality of Life ; Rehabilitation ; Steroids ; Ultrasonography

A 38-year-old man presented with a 2-year history of recurreit irticaria, abdominal pain and arthralgia of his finger joints. These symptoms were not con rolled in spite of taking medication and had a tendence to be aggravated in the winter. Laboratory findings revealed hvpocomlementemia, hypergammaglobulinemia and a positive rect on with an ice cube test. Skin biopsy specimen taken from the urticarial lesion of the left upper arm showed leukocytoclastic vasculitis with perivascular neutrophilic infiltrition, nuclear dusts, and extravasation of red blood cells. We thus made the diagnosis of hypocomplementemic urtirarial vasculitis syndrome with cold urticaria. The patient was treatcd ith systemic corticosteroids and antihistamines.
Abdominal Pain ; Adrenal Cortex Hormones ; Adult ; Arm ; Arthralgia ; Biopsy ; Diagnosis ; Dust ; Erythrocytes ; Finger Joint ; Histamine Antagonists ; Humans ; Hypergammaglobulinemia ; Ice ; Neutrophils ; Skin ; Urticaria* ; Vasculitis*

It has been suggested that there is an increased risk of cancer in patients with systemic lupus erythematosus (SLE), even when cytotoxic drugs are not used. The coincidence of plasma cell tumor and lupus nephritis has been documented in animal models, but multiple myeloma is rarely associated with SLE in humans. No case of multiple myeloma in SLE has been reported in Korea. We report a case of multiple myeloma in a patient with SLE. The patient was a 49-year-old woman, who had polyarthralgia for 2 years. Progressive, painful swelling in both elbow joints developed 3 months before admission. The diagnosis of SLE was based on the findings of nondeforming arthritis, neutropenia, and positive ANA and anti-Sm antibody. Laboratory studies showed hypergammaglobulinemia and an elevated serum immunoglobulin (Ig) G level. Serum protein electrophoresis disclosed an M spike and serum immunoelectrophoresis showed a monoclonal IgG lambda type. Bone marrow aspiration revealed 15% plasma cells. Therefore, we diagnosed this patient as having multiple myeloma and SLE simultaneously.
Arthralgia ; Arthritis ; Bone Marrow ; Diagnosis ; Elbow Joint ; Electrophoresis ; Female ; Humans ; Hypergammaglobulinemia ; Immunoelectrophoresis ; Immunoglobulin G ; Immunoglobulins ; Korea ; Lupus Erythematosus, Systemic* ; Lupus Nephritis ; Middle Aged ; Models, Animal ; Multiple Myeloma* ; Neutropenia ; Plasma Cells ; Plasmacytoma

X-linked hyper-IgM syndrome (XHIM) is a rare primary immunodeficiency disorder, caused by mutations of the gene encoding CD40 ligand (CD40L; CD154). We report the clinical manifestations and mutational analysis of the CD40L gene observed in a male patient from a XHIM family. Having hypogammaglobulinemia and elevated IgM, the 3-yr-old boy exhibited the characteristic clinical features of XHIM. The patient suffered from frequent respiratory infections, and chronic enteritis caused by Cryptosporidium parvum. In addition, a lymph node biopsy and a culture from this sample revealed C. neoformans infection. Activated lymphocytes from the patient failed to express CD40L on their surface as assessed by flow cytometry and a missence mutation (W140R) was found at the XHIM hotspot in his CD40L cDNA to confirm the diagnosis. Genetic analysis of the mother and sister showed a heterozygote pattern, indicating carrier status. To our knowledge, this is the first report on the molecular diagnosis of an XHIM patient in Korea.
Animals ; CD40 Ligand/*genetics ; Child, Preschool ; Cryptococcosis/*complications/genetics/immunology ; Cryptococcus neoformans ; Cryptosporidiosis/*complications/genetics/immunology ; *Cryptosporidium parvum ; Female ; *Heterozygote ; Humans ; Hypergammaglobulinemia/complications/*diagnosis/genetics/immunology ; Immunoglobulin M/*blood ; Korea ; Male ; Pedigree ; *X Chromosome

We report a rare case of multicentric Castleman's disease that presented with ophthalmic involvement, along with a review of the literature. A 63-year-old male presented with decreased visual acuity in both eyes. Both eyes had serous elevations of the retinas with shifting subretinal fluid and annular choroidal detachment. No retinal breaks were found. Laboratory tests revealed pancytopenia, hypergammaglobulinemia, and an increased erythrocyte sedimentation rate. Chest and abdominal computed tomographies showed multiple lymphadenopathies in the mediastinum, abdomen, and in both inguinal areas. Histological examination of the inguinal lymph node biopsy was consistent with Castleman's disease. After combination chemotherapy, the serous elevations of both retinas and the annular choroidal detachments of both eyes disappeared. Ophthalmic involvement in Castleman's disease is very rare, and to the authors' knowledge, this is the first report of ophthalmic involvement of Castlemans's disease in Korea.
Aged ; Choroid Diseases/etiology ; Drug Therapy, Combination ; Exudates and Transudates/*metabolism ; Fluorescein Angiography ; Fundus Oculi ; Giant Lymph Node Hyperplasia/*complications/drug therapy ; Humans ; Hypergammaglobulinemia/complications ; Magnetic Resonance Imaging ; Male ; Syndrome ; Tomography, Optical Coherence ; Treatment Outcome ; Uveal Diseases/diagnosis/*etiology/*metabolism

PURPOSE: Autoimmune hepatitis is a chronic inflammatory liver disease with unknown cause that is characterized by liver histology, circulating autoantibodies and increased levels of immunoglobulin G. Only sporadic reports are available on autoimmune hepatitis in children. The aim of this study was to evaluate the clinical, biochemical, and histological features, and the long-term outcome of autoimmune hepatitis in Korean children. METHODS: We reviewed the medical records of 14 children diagnosed as having autoimmune hepatitis at Seoul National University Children's Hospital from 1990 to 2004, and analyzed clinical, biochemical, and histological features, and clinical outcomes. RESULTS: Mean age at diagnosis was 9 years and 11 of the 14 children were female. Six children presented with acute hepatitis-like manifestations. Jaundice and fatigue were the most common symptoms. Other autoimmune diseases accompanied in 6 children. Anti-nuclear antibody was detected in 13 patients and anti-smooth muscle antibody was positive in 8. All 14 patients were type 1 autoimmune hepatitis. The main histologic findings were interface hepatitis, rosette formation, and cirrhosis. Clinical and biochemical features were improved in six patients treated with ursodeoxycholic acid. Eight patients were treated with corticosteroid alone or in combination with azathioprine and five of them are in biochemical remission. CONCLUSION: Autoimmune hepatitis is an inflammatory liver disease, which has a favorable long-term outcome if it is diagnosed and treated promptly. Therefore, autoimmune hepatitis should be suspected in children with chronic hepatitis of unknown etiology, especially in female patients who show hypergammaglobulinemia or some clinical features of autoimmune disease.
Autoantibodies ; Autoimmune Diseases ; Azathioprine ; Child* ; Diagnosis ; Fatigue ; Female ; Fibrosis ; Hepatitis ; Hepatitis, Autoimmune* ; Hepatitis, Chronic ; Humans ; Hypergammaglobulinemia ; Immunoglobulin G ; Jaundice ; Liver ; Liver Diseases ; Medical Records ; Prognosis* ; Rosette Formation ; Seoul ; Ursodeoxycholic Acid

Autoimmune hepatitis in children is a rare and severe inflammatory disease of unknown etiology, and progress to cirrohosis and liver failure, generally is responsive to immunosuppressive therapy. It is more prevalent in women than men, and characterized by the presence of circulating autoantibodies, a high serum globulin. Extrahepatic manifestations such as thyroiditis, ulcerative colitis, glomerulonephritis and autoimmune hemolytic anemia, are associated. We report, to our knowledge, the first case of autoimmune hepatitis in conjunction with choledochal cyst and pancreatitis in 11-year-old female patient. At the time of diagnosis, she suffered from acute upper abdominal pain, jaundice, and pallor. Laboratory findings showed Cooms positive hemolytic anemia, hypergammaglobulinemia, hyperbilirubinemia, and high serum transaminases. Antinuclear antibody was of homogeneous type. In liver biopsy, cellular infiltrates largely lymphocytes were noted. Treatment with corticosteroids induced clinical, biochemical remission, but subsequent withdrawal leaded to relapse. Incidentally choledochal cyst were found and then acute pancreatitis developed. After management for acute pancreatitis, surgical resection of cyst with hepatojejunostomy was performed.
Abdominal Pain ; Adrenal Cortex Hormones ; Anemia, Hemolytic ; Anemia, Hemolytic, Autoimmune ; Antibodies, Antinuclear ; Autoantibodies ; Biopsy ; Child ; Choledochal Cyst* ; Colitis, Ulcerative ; Diagnosis ; Female ; Glomerulonephritis ; Hepatitis, Autoimmune* ; Humans ; Hyperbilirubinemia ; Hypergammaglobulinemia ; Jaundice ; Liver ; Liver Failure ; Lymphocytes ; Male ; Pallor ; Pancreatitis* ; Recurrence ; Thyroid Gland ; Thyroiditis ; Transaminases

The pathogenesis of autoimmune hepatitis (AIH) is unclear, but viral infections have been proposed as a potential trigger in patients with genetic predisposition. We report a case of AIH following acute hepatitis A (AHA). A 57-year-old woman presented with fatigue and pitting edema for last 3 months. She had been diagnosed as an AHA 15 months ago based on clinical features, biochemical tests and positive HAV IgM antibody at a local clinic. Her biochemical tests was normalized one month after AHA diagnosis, but the serum levels of aminotransferase started to rise four months after AHA diagnosis. Antinuclear antibody was positive at a titer of 1:40, and anti-smooth muscle antibody was also positive. Hypergammaglobulinemia and liver pathology were typical for AIH. The patients had a score of 17 according to the International Autoimmune Hepatitis Group's system. She was given prednisolone and azathioprine and showed complete response to immunosuppressive therapy. The present case is the first report on AIH triggered by AHA in Korea.
Acute Disease ; Alanine Transaminase/blood ; Antibodies, Antinuclear/analysis ; Aspartate Aminotransferases/blood ; Autoantibodies/analysis ; Azathioprine/therapeutic use ; Female ; Hepatitis A/complications/*drug therapy ; Hepatitis, Autoimmune/*diagnosis/drug therapy/etiology ; Humans ; Hypergammaglobulinemia/diagnosis ; Immunosuppressive Agents/therapeutic use ; Liver/pathology ; Middle Aged ; Prednisolone/therapeutic use

Intestinal malrotation is a constellation of a wide spectrum of embryologic failures of rotation and fixation of the gut, resulting in a narrow-based attachment of the mesentery and the presence of abnormal peritoneal (Ladd's) band. These abnormalities predispose to midgut volvulus, intestinal obstruction and internal herniation. We experienced a case of intestinal malrotation complicated by midgut volvulus in a 4-year-old girl who presente with abdominal pain, abdominal distension and melena. The diagnosis was made by abdominal CT scan, which showed "whirl sign." The diagnosis was confirmed by surgery. A brief review of literature ensues.
Abdominal Pain ; Acidosis ; Acidosis, Renal Tubular* ; Adolescent ; Alkalies ; Anemia, Hemolytic ; Atrophy ; Biopsy ; Chest Pain ; Child, Preschool ; Diagnosis* ; Exanthema ; Female ; Fever ; Fibrosis ; Hospitalization ; Humans ; Hypergammaglobulinemia ; Hypokalemia ; Intestinal Volvulus* ; Leukopenia ; Liver Diseases ; Lupus Erythematosus, Systemic* ; Lymphopenia ; Melena ; Mesentery ; Molecular Weight ; Multiple Myeloma ; Nephrotic Syndrome ; Neutrophils ; Potassium ; Prednisolone ; Proteinuria ; Thyroid Diseases ; Tomography, X-Ray Computed*