No abstract available.
Hirschsprung Disease* ; Hypoventilation*

No abstract available.
Humans ; Infant, Newborn* ; Streptococcus pneumoniae* ; Streptococcus*

We report a case of SLE with antiphospholipid antibodies presented initially with severe bleeding. A six-year-old boy was admitted due to severe nasal bleeding for 2 months. The boy showed typical malar rash. The laboratory tests indicated that his platelet count was 80,000/mm3 and the PT and the aPTT were markedly prolonged. A number of clotting factors were decreased, including factorsll<12%, Vll: 42%, lX : 38%, Xl: 41%, and Xll: 16%. Urinalysis showed hematuria and proteinuria, and 24-hour urine protein was 1.37g/day. Venereal Disease Research Laboratory (VDRL) test was false positive, Coombs test, lupus anticoagulants and anticardiolipin antibodies (IgG and IgM) were positive. His symptoms and laboratory tests fulfilled the criteria of SLE with antiphospholipid antibody. Renal pathology showed lupus nepritis (diffuse proliferative glomerulonephritis, class lV). After steroid therapy, his nasal bleeding stopped immediately, and laboratory findings became normalized. This case showed the tendency of paradoxic bleeding, instead of the expected thrombosis which can be found in this type of patient. We anticipate it is mainly due to pronounced prothrombin deficiency.
Antibodies, Anticardiolipin ; Antibodies, Antiphospholipid* ; Anticoagulants ; Coombs Test ; Epistaxis ; Exanthema ; Glomerulonephritis ; Hematuria ; Hemorrhage* ; Humans ; Hypoprothrombinemias ; Lupus Erythematosus, Systemic* ; Male ; Pathology ; Platelet Count ; Proteinuria ; Sexually Transmitted Diseases ; Thrombosis ; Urinalysis

We report a case of SLE with antiphospholipid antibodies presented initially with severe bleeding. A six-year-old boy was admitted due to severe nasal bleeding for 2 months. The boy showed typical malar rash. The laboratory tests indicated that his platelet count was 80,000/mm3 and the PT and the aPTT were markedly prolonged. A number of clotting factors were decreased, including factorsll<12%, Vll: 42%, lX : 38%, Xl: 41%, and Xll: 16%. Urinalysis showed hematuria and proteinuria, and 24-hour urine protein was 1.37g/day. Venereal Disease Research Laboratory (VDRL) test was false positive, Coombs test, lupus anticoagulants and anticardiolipin antibodies (IgG and IgM) were positive. His symptoms and laboratory tests fulfilled the criteria of SLE with antiphospholipid antibody. Renal pathology showed lupus nepritis (diffuse proliferative glomerulonephritis, class lV). After steroid therapy, his nasal bleeding stopped immediately, and laboratory findings became normalized. This case showed the tendency of paradoxic bleeding, instead of the expected thrombosis which can be found in this type of patient. We anticipate it is mainly due to pronounced prothrombin deficiency.
Antibodies, Anticardiolipin ; Antibodies, Antiphospholipid* ; Anticoagulants ; Coombs Test ; Epistaxis ; Exanthema ; Glomerulonephritis ; Hematuria ; Hemorrhage* ; Humans ; Hypoprothrombinemias ; Lupus Erythematosus, Systemic* ; Male ; Pathology ; Platelet Count ; Proteinuria ; Sexually Transmitted Diseases ; Thrombosis ; Urinalysis

Glutaric aciduria type 1(GA1) is an autosomal recessive disorder of the lysine, hydroxylysine and tryptophan metabolism caused by the deficiency of mitochondrial glutaryl-CoA dehydrogenase. This disease is characterized by macrocephaly at birth or shortly after birth and various neurologic symptoms. Between the first weeks and the 4-5th year of life, intercurrent illness such as viral infections, gastroenteritis, or even routine immunizations can trigger acute encephalopathy, causing injury to caudate nucleus and putamen. But intellectual functions are well preserved until late in the disease course. We report a one-month-old male infant with macrocephaly and hypotonia. In brain MRI, there was frontotemporal atrophy(widening of sylvian cistern). In metabolic investigation, there were high glutarylcarnitine level in tandem mass spectrometry and high glutarate in urine organic acid analysis, GA1 was confirmed by absent glutaryl-CoA dehydrogenase activity in fibroblast culture. He was managed with lysine free milk and carnitine and riboflavin. He developed well without a metabolic crisis. If there is macrocephaly in an infant with neuroradiologic sign of frontotemporal atrophy, GA1 should have a high priority in the differential diagnosis. Because current therapy can prevent brain degeneration in more than 90% of affected infants who are treated prospectively, recognition of this disorder before the brain has been injured is essential for treatment.
Atrophy ; Brain ; Carnitine ; Caudate Nucleus ; Diagnosis, Differential ; Fibroblasts ; Gastroenteritis ; Glutaryl-CoA Dehydrogenase ; Humans ; Hydroxylysine ; Immunization ; Infant ; Lysine ; Macrocephaly* ; Magnetic Resonance Imaging ; Male ; Metabolism ; Milk ; Muscle Hypotonia ; Neurologic Manifestations ; Parturition ; Putamen ; Riboflavin ; Tandem Mass Spectrometry ; Tryptophan

Marshall-Smith syndrome is characterized by a triad of facial dysmorphism, failure to thrive and accelerated osseous maturation. We report a one-month-old male infant with of this rare syndrome, with laryngeal anomalies who died at 6 months of age with pneumonia. This is the first case of Marshall-Smith syndrome in Korea.
Failure to Thrive ; Humans ; Infant ; Korea ; Male ; Pneumonia

Wolf-Hirschhorn syndrome is a multiple malformation syndrome associated with mental and developmental retardation, resulting from a deletion at the short arm of chromosome 4 (4p16.3). We report a 11-year-old girl with Wolf-Hirschhorn syndrome, who was presented with severe growth and mental retardation along with characteristic features-frontal bossing, hypertelorism, downslanting of the palpebral fissures and fishlike lips. The diagnosis was confirmed by fluorescent in-situ hybridization (FISH).
Arm ; Child ; Chromosomes, Human, Pair 4 ; Diagnosis ; Female ; Humans ; Hypertelorism ; Intellectual Disability ; Lip ; Wolf-Hirschhorn Syndrome*

Wolf-Hirschhorn syndrome is a multiple malformation syndrome associated with mental and developmental retardation, resulting from a deletion at the short arm of chromosome 4 (4p16.3). We report a 11-year-old girl with Wolf-Hirschhorn syndrome, who was presented with severe growth and mental retardation along with characteristic features-frontal bossing, hypertelorism, downslanting of the palpebral fissures and fishlike lips. The diagnosis was confirmed by fluorescent in-situ hybridization (FISH).
Arm ; Child ; Chromosomes, Human, Pair 4 ; Diagnosis ; Female ; Humans ; Hypertelorism ; Intellectual Disability ; Lip ; Wolf-Hirschhorn Syndrome*

PURPOSE: Accurate diagnosis of group A streptococcal(GAS) pharyngitis and appropriate antimicrobial therapy are important, particularly to prevent nonsuppurative sequelae and to reduce the improper use of antibiotics. Because the clinical presentation of pharyngitis does not reliably predict the etiologic agent, when GAS infection is suspected, diagnosis should be based on the result of a throat swab culture or antigen-detection test with culture back-up. METHODS: We reviewed retrospectively the medical records of children diagnosed as GAS pharyngitis by throat swab culture from Jan. 1995 to Jul. 2000. Since Nov. 1998, specimens were also tested with the Abbott's Testpack+plus Strep A Kit. RESULTS: 121 patients were confirmed as GAS pharyngitis by throat culture. GAS pharyngitis predominantly occurred from 3 to 7 years of age with the peak incidence at 4 and 5 years of age. The disease was more frequent in late fall, winter and spring. Clinical manifestations were as follows; fever(89.9%), abnormal pharynx(94.3%), of which exudate in 33.6%, sore throat(85.3%), headache(78.1%), cervical lymphadenopathy(67.5%), abdominal pain(64.3%), and nausea or vomiting (55.0%). The sensitivity and specificity of rapid antigen test compared to throat culture were 96.4% and 95%, respectively. CONCLUSION: GAS pharyngitis occurred every year, and more frequently in late fall, winter and spring. It occurred with the greatest frequency in preschool children. The rapid antigen test can be a basis for clinicians to decide how to treat their patients before the culture results are proven, and can be helpful to judicious use of antibiotics as well.
Anti-Bacterial Agents ; Child ; Child, Preschool ; Diagnosis ; Exudates and Transudates ; Humans ; Incidence ; Medical Records ; Nausea ; Pharyngitis ; Pharynx ; Retrospective Studies ; Sensitivity and Specificity ; Vomiting

BACKGROUND: We analyzed data for pediatric hematology-oncology patients who had unexpected outcomes after they received alternative medicinal treatment; these outcomes could not be explained by modern medicine.METHODS: The medical history of 7 of the pediatric patients who were treated at Seoul National University Children's Hospital from 1987 to 2011 and had unexpected outcomes was analyzed retrospectively.RESULTS: The first patient had recurrent infantile fibrosarcoma and had more than 10 multiple coin lesions in both the lungs at the time of the third relapse. He received acupuncture twice weekly for 10 years without tumor progression. The second patient had recurrent fibromatosis in the neck and caused compression of the trachea and heart. The third patient had a malignant peripheral nerve sheath tumor and the fourth patient had inoperable inflammatory myofibromatosis. The second, third, and fourth patients were treated using a herbal medication that contained Phellinus linteus extract and exhibited responses ranging from partial to stable disease. The fifth and sixth patients had multiple focal nodular hyperplasia of the liver and recurrent renal cell cancer. These 2 patients exercised strict dietary control and underwent an exercise program that were adjusted according to their body constitution and were based on Sasang typology. These 2 patients now have stable disease. The seventh patient had unresponsive chronic idiopathic thrombocytopenic purpura and showed complete recovery of the platelet count after cepharanthine treatment.CONCLUSION: Scientific investigations are required to prove the effectiveness of these alternative medicines and to improve the results of such treatment in pediatric patients.
Acupuncture ; Benzylisoquinolines ; Body Constitution ; Carcinoma, Renal Cell ; Complementary Therapies ; Fibroma ; Fibrosarcoma ; Focal Nodular Hyperplasia ; Heart ; History, Modern 1601- ; Humans ; Liver ; Lung ; Myofibromatosis ; Neck ; Numismatics ; Peripheral Nerves ; Platelet Count ; Polysaccharides ; Purpura, Thrombocytopenic, Idiopathic ; Recurrence ; Trachea