A Case of Cerebral Infarction with Nephrotic Syndrome / 대한소아신경학회지

Nephrotic syndrome is known to be associated with a hypercoagulable state and thromboembolic complications. The pathogenic mechanisms are unclear yet, however, various alterations in coagulant and anti-coagulant factors may be responsible. Venous thromboembolic complications have been widely reported, but arterial thrombosis is relatively rare. We discribe a 4-year-old boy who was presented with acute cerebral infarction and was found to have a hypercoagulable state due to nephrotic syndrome.

A Survey of Awareness and Application of the Guideline for Diagnosis and Management of Childhood Asthma / 소아알레르기및호흡기학회지

PURPOSE: This survey was intended to investigate the awareness and application of the asthma guideline among pediatricians. Insight into the feasibility in the guidelines can guide implementation strategies in the future and, if necessary, support the revision of the previous guideline. METHODS: This self-administered survey study was conducted with the data on 10 items of questionnaire about knowledge and implementation of Korean childhood asthma guideline. The data was analyzed using SPSS WINDOW 8.0. RESULTS: A total of 141 doctors out of 500 participants in the pediatric refresh course responded the questionnaire. Ninety-five percent of the responders were aware of guideline, but differences were found between the asthma management policies in the guideline and their habitual practice patterns. As far as the prescription of inhaled corticosteroid, approximately half of the responders followed the guideline. For peak flowmeter use, 57% of the responders never prescribed peak flowmeter and only 5% of the responders used peak flowmeter frequently. The barriers pediatricians face when applying the guideline in the practice were habitual management pattern, time limitation, low compliance, lack of knowledge and economic burden. CONCLUSION: The guideline for diagnosis and management of childhood asthma seemed to be recognized widely, however, the role of the guideline to change pediatricians habitual practice was limited. These data clearly indicate a need for further educational programs directed to both physicians and patients. Finally the development of more practical evidence- based guideline is needed

Mutation Analysis of the Dystrophin Gene by Application of PCR in Duchenne Muscular Dystrophy / 대한소아신경학회지

PURPOSE: Large rearrangements in the dystrophin gene is detected in about 65-70% of patients by multiplex PCR or Southern blot, although detection of point mutations and microlesions is currently in progress. The purpose of this study is to carry out mutation analysis of the dystrophin gene by application of PCR-related molecular diagnostic methods in Duchenne muscular dystrophy (DMD). METHODS: Five patients diagnosed as a DMD by muscle biopsy, and their first-degree relatives and mothers were enrolled in this study. The genomic DNA was extracted from the peripheral blood lymphocyte. We used a total of 28 pairs of primers including Beggs' and Chamberlain's primers. The multiplex PCR was performed in 4 groups; 5'Rxn2, 3'Rxn2, Rxn2, and CRxn2. For exon duplication analysis, multiplex PCR and gel densitometry were carried out by comparing the band intensities among individual bands. For groups with no detectable deletion, single strand conformation polymorphism (SSCP) analysis and direct DNA sequencing method were performed with individual PCR of candidate exons. RESULTS: About 12-20microg of genomic DNA was extracted from 1mL of blood, and the size of DNA was over 50kb. Up to 9 PCR products were made from multiplex PCR using the genomic DNA. Among 5 families with DMD, No. 6 had about 240kb DNA deletion from exon 45 and 47-53, and No. 11 had about 130kb deletion from exon 47-49 and 53. No. 1 showed duplication of exon 43 when the multiplex PCR products were analyzed by a densitometer. When the deletion/duplication negative No. 3 was analyzed by SSCP method, exon 43 and 49 showed abnormal band patterns. The abnormal band pattern of exon 43 was caused by deletion mutation of A residue, which resulted in pretermination of dystrophin synthesis, meanwhile exon 49 showed transversion mutation of C G at intron 49. CONCLUSION: Based on the results of this study, the methods of multiplex PCR, SSCP and direct DNA sequencing of PCR products made it possible to analyze several types of mutation of DMD.

A Case of Complex Partial Status Epilepticus / 대한소아신경학회지

Nonconvulsive status epilepticus, which constitutes about 25% of all cases of status, has been subdivided into generalized nonconvulsive(absence) status and complex partial status. We report a case of complex partial status epilepticus in a 3-year-old male patient with altered mental function lasting about 24 hours. The electroencephalographic finding was compatible with complex partial status and the outcome of treatment is excellent, so far.

Hypothalamic Hamartoma : Clinical and MRI Features and Outcome / 대한소아신경학회지

PURPOSE: Hypothalamic hamartomas are non-neoplastic malformations which are composed of hyperplastic neuronal tissue of varying size. Clinically, they are characterized by gelastic seizure, precocious puberty, and behavioral and psychiatric disorders. This study was performed to examine the various features of hypothalamic hamartomas such as neurologic manifestations, other clinical manifestations, and EEG and brain MRI findings. Response to AEDs or outcome of operation on hypothalamic hamartoma was evaluated. METHODS: Eleven patients who were admitted to Seoul National University Children's Hospital from July 1986 to January 1997 and diagnosed as hypothalamic hamartoma by brain MRI or CT were enrolled in this study. Clinical manifestations and EEG were reviewed retrospectively through the medical records. The size and type of the hypothalamic hamartoma on brain MRl were analyzed. RESULTS: 1) The range of age at visit was 1yr 9mo to 17yr 2mo (mean 10yr 8mo), and the age at onset was 1yr 1mo to 14yr to 2mo (mean 5yr 8mo). Six patients were male and five were female. 2) The clinical manifestations included gelastic seizure (n=9), behavioral and psychiatric disorders (n=9), other types of seizure (n=8), and precocious puberty (n=6). Other types of seizure were complex partial seizure (n=3), generalized tonic seizure(n=3), and infantile spasm (n=2). 3) The interictal EEG findings included focal spike discharges (n=8), diffuse delta slowings (n=1), hypsarrhythmia (n=1), and normal record (n=1). The focal spike discharges originated from the temporal (n=2), fronto-temporal (n=1), occipital (n=3), or frontal area(n=2). 4) The brain MRI showed that the size of the hypothalamic hamartomas was 2.47+/-1.12cm, and the origin of the tumors was tuber cinereum (n=6) or tuber cinereum and mamillary body (n=5). All lesions were isointense on T1-weighted image relative to normal gray matter, with a sessile attachment to the hypothalamus, and were not enhanced by Gadolinium. 5) Operations were done in 5 cases, those were subtotal removal of the tumor (n=4), and gamma knife radiosurgery (n=1). Seizures were not completely controlled in all but one case on which gamma knife radiosurgery was done. CONCLUSIONS: The hypothalamic hamartomas presented variable clinical pictures including gelastic seizure, precocious puberty, and behavioral and psychiatric disorders. The gelastic and other types of seizure associated with hypothalamic hamartomas were refractory to medication and might be controlled by total removal of the tumor.

A Case of Infectious Mononucleosis Associated with Pleural Effusion and Ascites

Infectious mononucleosis is an acute infectious disease occurring predominantly in older children and young adults due to primary Epstein-Barr virus infection. The clinical picture is extremely variable in both severity and duration. The disease in children is generally mild. It is characterized clinically by fever, exudative or membranous pharyngitis, generalized lymphadenopathy, and splenomegaly. Rarely, it complicates neurologic involvement such as cranial nerve palsy, meningoencephalitis, and transverse myelitis, hematologic involvement such as hemolytic anemia, immune thrombocytopenic purpura, and aplastic anemia, rupture of spleen, myocarditis, interstitial pneumonia, and orchitis, etc. We experienced a case of infectious mononucleosis with pleural effusion and ascites in a 5-year-old male with the chief complaint of fever, sore throat and vomiting 3 days prior to admission. The diagnosis was made on the clinical findings, immunologic findings and the typical findings of peripheral blood smear. On peripheral blood smear, leukocytosis with atypical lymphocytosis were seen. On immunologic study, anti-VCA IgM and IgG were positive by ELISA method. We reported this case and reviewed related literatures briefly.

Epidemiologic Study during 1993 Measles Outbreaks in Seongnam Area

PURPOSE: Although remarkable progress has been made in efforts to control measles since measles vaccines became available for use, the longterm success of their vaccination programmes has been questioned, with the worldwide resurgence of the disease. This resurgence has increased attention on the inadequacy of current immunization programmes. In 1993 there have been measles outbreaks in Seong-nam city located near the sourthern Seoul, Korea. To characterize further the epidemiology of measles in Seong-nam city, we analysed demographic characteristics of measles cases reported for the year 1993. METHODS: With the cooperation of the nurse teacher in elimentary school, the data of measles cases were collected and each case was confirmed at local clinics, hospital or general hospital, including inha General Hospital. RESULTS: 1) Out of 645 cases(male: female = 1.08:1) the children above 5 yrs of age were 586 cases of which 529 cases(90.3%) were vaccinated on after 15 months of age. After the survey, measles occurred in 1.9% of the 11 elementary school students. Children with past MMR vaccination history showed milder course of measles than those without the vaccination history. 2) Out of 87 patients who had been brought to Inha General Hospital, 55%(n=48) was 6 to 1 5 months of age, 13%(n=11) was 15 months to 4 years of age, and 32%(n=28) was 5 to 14 years of age, which showed two major outbreaks: those in which of the cases occurred below 16 months of age and those in which considerable cases occurred among school-age persons. 3) Below 15 months of age, most of the cause of the unvaccination were inadequate access to medical care and lack of public awareness in some communities, with the resulting lack of d emand for immunization services. The causes of unvaccination above 15 months of age were neglect or oblivion in 35%(n=2 0), mild acute illness not contraindicated to vaccine use in 21%(n=12), economic difficulty in 8. 8%(n=5), vaccine omission after natural measles before 12 months of age in 7%(n=4). CONCLUSIONS: Despite the high uptake of measles vaccine there is currently a nationwide e pidemic of measles, especially among the school-age groups. Secondary vaccine failure is also thought to be important cause of measles ortbreak as well as primary vaccine failure. A booster dose of measles vaccine may be necessary to reduce the measles outbreak to allow the goal of measles elimination to be achieved, with the reinforcement of age-appropriate Immunization.

A Study about Optimal Dose of Aspirin in Treating Kawasaki Disease

PURPOSE: A prospective study was performed to evaluate the efficacies of two different dosages of aspirin(ASA) in treating Kawasaki disease(KD). METHODS: Thirty-nine children with KD were admitted to this hospital from July, 1992 to May, 1993, and were assigned randomly into 2 groups. Group A(medium-dose group, 20 patients) was given 50mg/kg/d(# 4), and group B(high-dose gorup, 19 patients) was given 100mg/kg/d(# 4) of ASA. Intravenous gammaglobulin(2g/kg) was given to all patients. RESULTS: 1) There were no significant differences in ages, sex ratios, durations of fever before treatment, and laboratory findings on admission between two groups. 2) The durations of ASA administration were similar in 2 groups(group A, 10.1+/-2.77 ; group B, 10.6+/-3.37 days ;?p>0.1). 3) The durations of fever after onset of treatment were not different significantly (group A, 2.65+/-3.28 ; group B, 1.74+/-1.52 days ; p>0.1). 4) There were no significant differences in laboratory findings after treatment between two groups, except hemoglobin(Hgb) and ESR examined in the 3 rd week of illness (Hgb: group A (N=15), 10.1+/-1.24 ; group B(n=14), 11.1+/-0.92g/dl ; p0.1), and in 25% of group A(5/20) and 10.5% of group B(2/19) at the 2 nd examination (p>0.1). In long-term follow-up, only 1 patient in each group showed coronary aneurysm respectively. CONCLUSIONS: Although serum concentrations of ASA were different significantly, there were no significant differences in recovery from KD and incidences of coronary artery lesions between two grous. So we think medium-dose aspirin therapy is safe and effective in the treatment of Kawasaki disease.

Measurement of Malonate Concentration using Malonyl-CoA Synthetase and Its Relationship with Disease

No abstract available.