Familial hemophagocytic lymphohistiocytosis (FHL) is a rare disease characterized by fever, hepatosplenomegaly, cytopenia and non-malignant lymphohistiocytic infiltration with hemophagocytosis in reticulendothelial organs. We experienced three cases of FHL in identical male twins and their younger brother who presented with fever and severe hepatosplenomegaly. Cytopenia, elevated serum transaminase and low serum albumin levels, hypertriglyceridemia were common laboratory findings of them. One of them showed markedly decreased phytohemagglutinin induced lymphocyte proliferation and reversed CD4/CD8 ratio (0.52) in flowcytometric lymphocyte subset analysis. Aspirate of bone marrow revealed typical features consistent with FHL in two of them. In spite of recent therapeutic approaches, none of them survived.
Bone Marrow ; Fever ; Humans ; Hypertriglyceridemia ; Lymphocyte Subsets ; Lymphocytes ; Lymphohistiocytosis, Hemophagocytic* ; Male ; Rare Diseases ; Serum Albumin ; Siblings

PURPOSE: This prospective pilot study is a part of the Korean NIH's effort to characterize con- genital anomalies and genetic disorders in Korea and to establish a National Genetic Database. METHODS: This population-based study was conducted at all hospitals that deliver in the province of Suwon; a total of 39 hospitals from May 1, 1997 to April 30, 1999 for a two-year period. All outcome of pregnancies, including liveborn, stillborn, and TOP over 20wks gestation were subjects of this study for the presence of major congenital anomalies. Delivery records of each hospital and pediatric records of one tertiary hospital were collected and analyzed. RESULTS: The total number of pregnancy was 30,319 yielding 30,653 deliveries, including 269 still-born and 27 TOPs. The overall incidence of congenital anomalies was 1.2Yo(366 cases among 30,653 deliveries) with 0.5Yo from primary hospital, 1.4Yo of general hospital deliveries and 4.5Yo of tertiary hospital deliveries. The incidences of selective major congenital anomalies per 1,000 deliveries were 0.82 for Down syndrome, 1.79 for cleft lip with or without cleft palate, and 0.39 for open neural tube defect. CONCLUSION: This pilot study represented the first community-based population data on congenital anomalies in Korea, differing from previous studies based on selective population of relative high-risk population from tertiary hospital delivery. Search for congenital anomalies among cohort by reviewing pediatric records yielded 38Yo of total anomalies, indicating the importance of combining both delivery and pediatrics records in generating accurate data for the incidence of congenital anomalies. (J Korean Pediatr Soc 2000;43:738-745)
Cleft Lip ; Cleft Palate ; Cohort Studies ; Congenital Abnormalities* ; Databases, Genetic ; Down Syndrome ; Epidemiologic Studies* ; Gyeonggi-do ; Hospitals, General ; Incidence ; Korea ; Neural Tube Defects ; Parturition* ; Pediatrics ; Pilot Projects* ; Pregnancy ; Prospective Studies* ; Tertiary Care Centers

PURPOSE: Urinary tract infection (UTI) in children is the most common disease during the infantile period, therefore early diagnosis and treatment are important. Pyuria is a useful clinical parameter for the initial diagnosis of a UTI. In this study we aimed to compare the clinical, laboratory, and imaging findings in relation to the duration of pyuria in infants with UTIs. METHODS: Three hundred seventy-four infants <12 months of age who were admitted between January 1995 and December 2005 for the first episode of a febrile UTI were retrospectively reviewed. Patients were divided into two groups according to the duration of pyuria as follows: group 1, pyuria resolved <3 days after initial treatment; and group 2, pyuria lasted at least 3 days after initial treatment. RESULTS: There were no significant differences between the two groups in relation to gender, age, total duration of fever, and organisms in the urine. Group 2 had a significantly higher peripheral blood leukocyte count (14,360.86+/-5,526.16 cells/mm3 vs. 11,822.55+/-5,687.26 cells/mm3, P<0.001), erythrocyte sedimentation rate (32.81+/-19.34 mm/hr vs. 23.74+/-20.43 mm/hr, P<0.001), and C-reactive protein (6.84+/-5.68 mg/dL vs. 3.78+/-3.99 mg/dL, P<0.001) than group 1. There was a significantly higher incidence of hydronephrosis and a higher grade of vesicoureteral reflux (VUR) in group 2 compared to group 1. CONCLUSION: In infants with UTI, pyuria of longer duration is related to severe UTI and higher grade VUR, therefore aggressive radiologic studies may be necessary.
Blood Sedimentation ; C-Reactive Protein ; Child ; Early Diagnosis ; Fever ; Humans ; Hydronephrosis ; Incidence ; Infant ; Leukocyte Count ; Pyuria ; Retrospective Studies ; Urinary Tract ; Urinary Tract Infections ; Vesico-Ureteral Reflux

No abstract available.
Fibrosis*

The virus-associated hemophagocytic syndrome is a disorder characterized by a benign, generalized histiocytic proliferation, with marked hemophagocytosis associated with systemic viral infections. We experienced a case of Epstein-Barr virus (EBV)-associated hemophagocytic syndrome in a 2-year-old female who admitted to our department of pediatrics because of high fever, abdominal distension. Evidence for acute, primary EBV infection was demonstrated with serological and in situ hybridization method. Her presentation, treatment, and clinical course are discussed.
Child, Preschool ; Epstein-Barr Virus Infections ; Female ; Fever ; Herpesvirus 4, Human ; Humans ; In Situ Hybridization* ; Lymphohistiocytosis, Hemophagocytic* ; Pediatrics

Nephrogenic diabetes insipidus (NDI) is a disorder in which the secretion of antidiuretic hormone is normal, but the response of the renal collecting tubules to vasopressin is impaired. Compared with acquired NDI (a-NDI), which is secondary to chronic bilateral incomplete urinary tract obstruction with hydronephrosis, congenital NDI (c-NDI) is a very rare heritable disorder that usually follows the X- linked recessive pattern. Clinical symptoms of c-NDI can be non specific, and often the disease ultimately results in failure to thrive, or mental retardation. Recently, the diagnosis can be confirmed by direct sequencing analysis of the peripheral blood specimens. The long-term results of treatment for c-NDI are not satisfactory. Reports on the follow up of c-NDI cases are rare and there is no report on the cases treated with combinations of three drugs. We report herein a case of severe c-NDI in an 8 year-old-boy with a severely dysconfigurated urinary tract system. The patient and his mother showed a frameshift mutation on the AVPR2 gene on chromosome Xq28: .847_851delTGCTG (p.C283fsX90). The patient showed normal growth and development by treatment with combinations of hydrochlorothiazide (65 mg/m2), amiloride (0.3 mg/kg/d) and indomethacin (100 mg/m2), yet after five years he needed adjuvant cystostomy to relieve him from the residual symptoms of urgency with polyuria.
Amiloride ; Cystostomy ; Diabetes Insipidus, Nephrogenic* ; Diagnosis ; Failure to Thrive ; Follow-Up Studies ; Frameshift Mutation ; Growth and Development ; Humans ; Hydrochlorothiazide ; Hydronephrosis ; Indomethacin ; Intellectual Disability ; Mothers ; Polyuria ; Urinary Tract ; Vasopressins

Primary intestinal lymphangiectasia is a rare congenital disorder characterized by diffuse or localized ectasia of the enteric lymphatics, often in association with lymphatic abnormalities elsewhere in the body. The pathogenesis of these abnormal lymphatic structures is uncertain. Ectatic lymphatics may be located in the mucosa, submucosa, or subserosa, leading to a loss of protein and lymphocytes into the gut or the peritoneal cavity. The mechanism of this lymphatic loss is believed to be due to a rupture of lymphatics across the mucosa with subsequent leakage of the lymph into the bowel lumen. Presentation of primary intestinal lymphangiectasia may occur any time throughout infancy and childhood. Prominent clinical features include protein-losing enteropathy, lymphocytopenia, hypogammaglobulinemia, edema, growth failure, and chronic diarrhea. The mainstay of treatment for intestinal lymphangiectasia is the use of a low-fat, high- protein, medium-chain triglycerides diet. The natural history of this rare disorder is not well known as only a few cases have been reported in the literature. We present herein the follow up of a case with primary intestinal lymphangiectasia who responded to octreotide therapy but did not respond to dietary or antiplasmin therapy.
Agammaglobulinemia ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Diarrhea ; Diet ; Dilatation, Pathologic ; Edema ; Follow-Up Studies* ; Lymphatic Abnormalities ; Lymphocytes ; Lymphopenia ; Mucous Membrane ; Natural History ; Octreotide ; Peritoneal Cavity ; Protein-Losing Enteropathies ; Rupture ; Triglycerides

Inflammatory myopathies are comprised of three major subsets, polymyositis, dermatomyositis and inclusion body myositis. Although their etiology is unclear, each group retains its characteristic clinical, immunopathologic features. In polymyositis, a CD8+ T-cell mediated cytotoxicity against muscle fibers has emerged as the main pathologic event, whereas in dermatomyositis complement-mediated injury by antibody may be the primary pathology. There has been several reports on polymyositis internationally but we could find only a few reports in Korea. We report here a 8-year old female patient admitted with a stuporous mentality. After coughing and fever for 3 days, she got myalgia, abruptly developed gross hematuria and dyspnea. After admission, she showed weak self respiration and exclussively elevated muscle enzyme in blood chemistry. In muscle biopsy, lymphocytic infiltrations were found in the fascicles without endomysial fibrosis and these lymphocytes were composed of T lymphocytes on immunohistochemical stain. She received two infusions of intravenous immunoglobulin(1g/kg/day), and showed dramatic improvement in symptoms and signs.
Biopsy ; Chemistry ; Child ; Cough ; Dermatomyositis ; Dyspnea ; Female ; Fever ; Fibrosis ; Hematuria ; Humans ; Immunoglobulins* ; Korea ; Lymphocytes ; Myalgia ; Myositis ; Myositis, Inclusion Body ; Pathology ; Polymyositis* ; Respiration ; Stupor ; T-Lymphocytes

Inflammatory myopathies are comprised of three major subsets, polymyositis, dermatomyositis and inclusion body myositis. Although their etiology is unclear, each group retains its characteristic clinical, immunopathologic features. In polymyositis, a CD8+ T-cell mediated cytotoxicity against muscle fibers has emerged as the main pathologic event, whereas in dermatomyositis complement-mediated injury by antibody may be the primary pathology. There has been several reports on polymyositis internationally but we could find only a few reports in Korea. We report here a 8-year old female patient admitted with a stuporous mentality. After coughing and fever for 3 days, she got myalgia, abruptly developed gross hematuria and dyspnea. After admission, she showed weak self respiration and exclussively elevated muscle enzyme in blood chemistry. In muscle biopsy, lymphocytic infiltrations were found in the fascicles without endomysial fibrosis and these lymphocytes were composed of T lymphocytes on immunohistochemical stain. She received two infusions of intravenous immunoglobulin(1g/kg/day), and showed dramatic improvement in symptoms and signs.
Biopsy ; Chemistry ; Child ; Cough ; Dermatomyositis ; Dyspnea ; Female ; Fever ; Fibrosis ; Hematuria ; Humans ; Immunoglobulins* ; Korea ; Lymphocytes ; Myalgia ; Myositis ; Myositis, Inclusion Body ; Pathology ; Polymyositis* ; Respiration ; Stupor ; T-Lymphocytes

Human parvovirus(HPV) B19 infection causes erythema infectiosum in children, sometimes red cell aplastic crisis with hemolytic anemia and chronic bone marrow failure in immunocompromised hosts. HPV B19 is directly cytotoxic for erythroid progenitor cells and inhibits erythropoiesis. Infrequently, HPV B19 inhibits hematopoiesis of three cell lineages and causes transient pancytopenia in patients with hemolytic disorders. We report three patients with hereditary spherocytosis who developed transient aplastic crisis. A HPV B19 infection was confirmed by IgM anti-B19 parvovirus titers and characteristic findings of bone marrow examination as the causative agent associated with severe pancytopenia. Three patients recovered spontaneously after a short period of supportive care with red cell transfusions and intravenous immunoglobulin.
Anemia, Hemolytic ; Bone Marrow ; Bone Marrow Examination ; Cell Lineage ; Child ; Erythema Infectiosum ; Erythroid Precursor Cells ; Erythropoiesis ; Hematopoiesis ; Humans ; Immunocompromised Host ; Immunoglobulin M ; Immunoglobulins ; Pancytopenia ; Parvovirus*