A Case of Neonatal Isoimmune Hemolytic Disease due to Anti-Mi(a) Antibody with Massive Fetomaternal Hemorrhage / 대한주산의학회잡지

Authors experienced a newborn treated with severe anemia transferred to our hospital due to pulselessness and apnea shortly after birth. Laboratory analysis of the blood on admission revealed hemoglobin 3.1 g/dL, reticulocyte 11.0%. Kleihauer-Betke test for fetal hemoglobin from maternal blood was seen Hgb F 7%, then we suggested almost 180 ml fetomaternal hemorrhage. But, anemia was not improved despite repeated packed RBC transfusion. So, we evaluated the other cause of intractable anemia. The results were as follows; the Coombs' test was positive. The antibody identification test using mother's serum revealed anti-Mia antibody. The patient improved with supportive treatment, but got hypoxic brain injury due to massive fetomaternal hemorrhage. At day 29, the infant was doing well and was discharged. We report a case of neonatal isoimmune hemolytic disease due to anti-Mia with massive fetomaternal hemorrhage with a brief review of the related literatures.

A Case of Bronchiolitis Obliterans Organizing Pneumonia with a Solitary Pulmonary Nodule in a Child / 소아알레르기및호흡기학회지

Bronchiolitis obliterans organizing pneumonia (BOOP) is a pulmonary disorder that exhibits various radiographic findings. It often shows bilateral, patched, or ground glass interstitial infiltrate, but a solitary nodular pattern rarely appears. We report a case of an 8-year-old boy suffering from BOOP that showed a single nodular pattern of the lung in the chest radiography. We conclude that when there is a solitary nodule discovered in the lungs of children or adolescence, the differential diagnosis must include BOOP.

Comparison of Clinical Manifestations of RSV, Rhinovirus and Bocavirus Infections in Children with Acute Wheezing / 소아알레르기및호흡기학회지

PURPOSE: The purpose of this study was to compare clinical manifestations of human bocavirus (hBoV), respiratory syncytial virus (RSV), and human rhinovirus (hRV) in children with acute wheezing. METHODS: We retrospectively investigated 549 virus-positive throat swabs obtained between January 2006 and December 2008 from pediatric inpatients with acute respiratory tract disease at Kwangju Christian Hospital. Among them, 109 patients, who had lower respiratory tract infections with wheezing, were enrolled in this study. The medical records of patients with positive results were reviewed for clinical data. RESULTS: The mean age of the patients with RSV was 7.15 months, 15.66 months in those with hRV, and 15.04 months in those with hBoV. The mean fever duration and frequency of patients with fever was 2.43 days and 47.9% for RSV, 2.86 days and 51.7% for hRV, and 3.75 days and 69.6% for hBoV. The frequency of patients with acute otitis media was 20.8% in the RSV, 20.7% in the hRV, and 13.0% in the hBoV groups. The frequency of lung infiltration on chest X-ray was 12.5% in the RSV, 20.7% in the hRV, and 47.8% in the hBoV groups. CONCLUSION: We compared the clinical manifestations of respiratory viral infections in infants and children with wheezing. However, further surveillance will be necessary to clarify the clinical manifestations of the viruses.

Effect of Otitis Media and Cerumen Occlusion on Body Temperature Measured by Thermometers / 소아감염

PURPOSE: To examine the effect of unilateral otitis media and unilateral cerumen occlusion of the ear canal on thermometers. METHODS: One hundred eighty six children with unilateral otitis media, fifty children with unilateral cerumen occlusion, and fifty children with neither otitis media nor cerumen were enrolled. Temperature was measured in both ear canals using thermometers. After 15 minutes, second temperature was measured again in both ears. Unilateral otitis media was graded by video otoscope for 7 grades. Differences in temperatures between affected ears and unaffected ears were analyzed. RESULTS: No temperature difference between the normal and cerumen groups was observed. The mean temperature of the otitis media ear canal was 0.13+/-0.20degrees C higher than that of the intact ear canal (36.99+/-0.54degrees C vs 36.86+/-0.52degrees C; P<0.001). There was no statistically significant temperature difference between grades. CONCLUSION: Unilateral otits media can affect estimation of body temperature measured by thermometers.

Clinical Review of Pulmonary Tuberculosis in Teenagers According to the Involved Lung / 소아감염

PURPOSE: The purpose of this study was to investigate clinical features and culture-positive rates according to the involved lung in adolescent pulmonary tuberculosis (TB). METHODS: We retrospectively reviewed the medical records of adolescents who ranged in age from 10 to 20 years and who had been hospitalized with a diagnosis of TB at Kwangju Christian Hospital from 2000 to 2008. RESULTS: Sixty-six patients were identified with pulmonary TB: median age 16.82 years; 48.5% males. Among them, 90.9% of patients were between 15 and 20 years of age. Most patients presented with multiple symptoms, and the most common included cough (74.2%), sputum (60.6%), fever (39.5%), and night sweating (18.2%). Sputum samples were smear-positive in 28 (42.4%), culture-positive in 40 (60.6%), and PCR-positive in 46 (69.7%). The most common radiological patterns included cavitation in 18 (27.3%), pleural effusion in 18 (27.3%), lymphadenopathy in 10 (15.2%), and tuberculoma in 5 (7.6%). The prevalence of smear, culture, and PCR positive rates increased as the number of involved lobes increased (P<0.05, P<0.01, P<0.05). The median treatment duration was 7 months. Twelve patients (18.2%) had lower lung field TB (Group A) and forty-four patients (66.7%) had other areas involving TB, except for Group A (Group B), and ten patients (15.1%) had only TB pleurisy (Group C). The difference of clinical characteristics and culture rates between group A and group B was not significant. CONCLUSION: Pulmonary TB toward late adolescence is increasing. We need to pay more attention to lower lung field TB, which is difficult to detect with specific radiographic findings.

A Case of 22q13 Deletion Syndrome

The deletion 22q13 syndrome (Phelan-McDermid syndrome) is a rare microdeletion syndrome characterized by prominent neurobehavioral deficits including neonatal hypotonia, developmental delay, language delay, autism, and minor dysmorphic features. Due to nonspecific facial features and difficulties in detection in routine chromosome analysis, this chromosome deletion syndrome has gone under-diagnosed. Fluorescence in situ hybridization (FISH) is required to confirm the presence of this deletion. Here we report the first case of 22q13 deletion syndrome in Korea. An 18-month-old girl was admitted to a pediatric clinic due to severe developmental delay and hypotonia from the neonatal period. She was diagnosed as 22q13 deletion syndrome through a chromosomal analysis and FISH using arylsulfatase A probe.

Recurrent Wheezing After Human Bocavirus Lower Respiratory Tract Illnesses in Early Life / 소아알레르기및호흡기학회지

PURPOSE: Excluding RSV, the relationship between bronchiolitis caused by viruses and the development of wheezing and atopy in childhood has not been well studied. We studied this relationship in children who had bronchiolitis caused by human bocavirus before 2 years of age. METHODS: We retrospectively investigated 2,430 throat swab obstained between January 2005 and December 2007 from pediatric in-patients with acute respiratory tract disease at the Kwangju Christian Hospital. Human bocavirus was detected in 112 patients. A total of 61 patients less than 2 years of age were finally enrolled in this study. Patients were followed up between April and June of 2008. We measured the frequency of wheezing and atopic status using (allergy skin-prick tests, CAP tests and MAST tests). RESULTS: Of the 61 patients, 16 (26.2%) had recurrent wheezing. Of these 16 patients, 8 (13.1%) had Infrequent wheezing (1-2 wheezing episodes) and 8 (13.1%) had frequent wheezing (3 and over wheezing episodes). Of the total 61 patients, 18 (29.5%) completed allergy tests. Of the 18 patients, 10 (55.6%) were sensitized to at least 1 allergen. Recurrent wheezing was significantly associated with the severity of bronchiolitis (mild vs. moderate vs. severe; 9.1% vs. 22.2% vs. 66.7%). CONCLUSION: Human bocavirus-induced bronchiolitis in childhood are an independent risk factor for development of wheezing in childhood and may be associated with an increased risk of allergic sensitization. The most important risk factor for recurrent wheezing is the severity of lower respiratory tract illnesses.

Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome: Successful treatment of the first case with bilateral Wilms' tumors in Korea / 소아과

Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is caused by deletion of chromosome 11p13, including the Wilms' tumor (WT1) and aniridia gene (PAX6) loci. Here, we report the first case of WAGR syndrome in Korea; the patient was a 2-year-old girl with bilateral aniridia from birth who presented with abdominal distention and mental retardation. Cytogenetically, she had deletion of chromosome 11p11.2-13. Bilateral Wilms' tumors were successfully treated by chemotherapy and surgery. She has been tumor-free for 19 months off chemotherapy with preserved renal function.

3-year Follow-up of a Menkes Disease Patient

Menkes disease is a rare fatal X-linked recessive disorder characterized by a generalized defect in intracelluar copper transport. The clinical features which arise from copper deficiency include progressive neurologic deterioration, epilepsy, hair and connective tissue abnormalities. Menkes disease is caused by mutations in the gene encoding the Menkes protein(ATP7A, copper transporting P-type ATPase), which is located on the long arm 13 of the X-chromosome. ATP7A mutations are found in 60 to 70% of the patients. We have experienced a case of Menkes disease in a 6-month-old male who showed developmental delay, myoclonic seizures and kinky hair. The serum copper and ceruloplasmin levels were low and the missense mutation(c.3352G>A, resulting in p.G1118S) in exon 17 of ATP7A gene was found. During 3-year follow-up, he regressed developmentally and showed brain atrophy, multiple bladder deverticula, and bony deformities.

Blunted Indomethacin-Induced Downregulation of Aquaporins by Nitric Oxide Synthesis Inhibition in Rats

The present study was aimed to determine whether nitric oxide (NO) plays a role in the regulation of aquaporin (AQP) channels in the kidney. Male Brattleboro rats (250~300 g body weight) were used. The experimental group was treated with N(G)-nitro-L-arginine methyl ester (L-NAME, 100 mg/L drinking water) for 1 week, and cotreated with indomethacin (5 mg/kg, twice a day, i.p.) for the last two days. Control groups were treated with either L-NAME for 1 week, indomethacin for 2 days, or without any drug treatment. The abundance of AQP1, AQP2 and AQP3 proteins in the kidney was determined by Western blot analysis. Indomethacin downregulated AQP channels, whereas L-NAME by itself showed no significant effects on them. The indomethacin-induced downregulation of AQP2 and AQP3 was significantly blunted in L-NAME-treated rats, while that of AQP1 was not affected. These results suggest that endogenous NO, when stimulated, may downregulate AQP channels that are specifically regulated by AVP/cAMP pathway in the kidney.