Two Cases of Neonatal Lupus and Literature Review

Neonatal lupus is a rare rheumatic disease. Clinical manifestations include characteristic annular or macular rashes, congenital heart block, cytopenias, and hepatitis. Neonatal lupus is caused by transmission of maternal immunoglobulin G autoantibodies such as anti-SSA/Ro antibody or anti-SSB/La antibody to the fetus through the placenta. We report two cases of neonatal lupus. The first case refers to an 18-day-old male with annular rashes on both cheeks, neutropenia, positive tests for antinuclear antibody, anti-SSA/Ro antibody, and anti-SSB/La antibody. His mother was diagnosed with systemic lupus erythematosus characterized by positive tests for antinuclear antibody, anti-SSA/Ro antibody, and anti-SSB/La antibody. The second case represents a 32-day-old female with annular rash on both hands, soles, and the genital area, neutropenia, hepatitis, positive tests for antinuclear antibody, and anti-SSA/Ro antibody. Skin punch biopsy was conducted. Her mother did not have history of connective tissue diseases. We referred her mother to the division of rheumatology of the department of internal medicine. The mother was suspected with primary Sjögren's syndrome because of arthralgia and dry eye symptoms with positive tests for antinuclear antibody, anti-SSA/Ro antibody, anti-SSB/La antibody, and rheumatoid factor. It is necessary to suspect neonatal lupus in neonates or infants with characteristic annular rash with or without maternal history of connective tissue disorders.

Comparison of R-mix Virus Culture and Multiplex Reverse Transcriptase Polymerase Chain Reaction for Assessment of Neonatal Respiratory Viral Infection

OBJECTIVE: Respiratory viral infection of the neonatal period is highly contagious. Rapid and accurate diagnosis is important for proper treatment and prevention. However, the existing diagnostic method, respiratory virus cell culture, takes a long time to diagnose. Recent development of rapid diagnostic methods such as multiplex reverse transcriptase polymerase chain reaction (RT-PCR) enable early detection and effective treatment of respiratory viral infections. We compared the efficiency of multiplex RT-PCR and R-mix virus culture for rapid detection of respiratory viruses. METHODS: We retrospectively analyzed the clinical features and results of R-mix virus culture and multiplex RT-PCR with nasopharyngeal aspiration specimens in 117 newborns admitted to neonatal intensive care unit suspected of infectious diseases. RESULTS: R-mix virus culture was positive in 29 cases (24.8%) and RT-PCR in 86 cases (73.5%). R-mix virus culture and multiplex RTPCR were identical in 54 cases (positive 26 cases, negative 28 cases). Among 75 cases that showed different results, 60 showed negative result in R-mix virus culture and positive result in multiplex RT-PCR, and three showed positive result in R-mix virus culture and negative result in multiplex RT-PCR. Different viruses were detected in the remaining 12 cases by both methods. CONCLUSION: Multiplex RT-PCR is faster than R-mix virus culture and has the advantage of identifying new respiratory viruses. On the other hand, Multiplex RT-PCR is more susceptible to false positives and mixed infections than R-mix virus culture, so more attention is required when interpreting test results.

Comparative Study between High Dose Aspirin and Ibuprofen in the Treatment of Kawasaki Disease in the Acute Stage

OBJECTIVE: Reye's syndrome can be caused by high dose of aspirin which is for treatment of acute phase of Kawasaki disease. We evaluated the effectiveness of treatment and coronary complications of replacing high dose of aspirin with ibuprofen for children in acute phase of Kawasaki disease. METHODS: Children with Kawasaki disease (n=235) were admitted in the pediatric department from January 1, 2015 to December 31, 2017. Echocardiography and laboratory tests were performed during admission, and the children were followed-up at 6–8 weeks after the onset. We retrospectively analyzed their characteristics and clinical outcomes. RESULTS: The children were assigned to receive either high dose of aspirin with intravenous immunoglobulin (IVIG) (aspirin group) or ibuprofen with IVIG (ibuprofen group). A total of 119 and 116 children were included in the aspirin and ibuprofen groups. Total fever duration was 6.5±1.6 days in the aspirin group, and 6.5±1.7 days in the ibuprofen group (P=0.674). The number of resistance to initial treatments was 11 in the aspirin group and 11 in the ibuprofen group (P=0.571). There were 13 initial coronary complications in the aspirin group, and 10 in the ibuprofen group (P=0.552) and children who showed coronary artery abnormalities improvement at 6- to 8-week follow-up was seven and five in the aspirin and ibuprofen groups, respectively (P=0.769). CONCLUSION: We may consider using ibuprofen in acute phase of Kawasaki disease to prevent the severe complications of aspirin use, such as Reye's syndrome in the case concerning influenza or varicella.

Left Ventricular Noncompaction Complicated with Myocardial Infarction with Barth Syndrome in a Newborn

Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized by a hypertrabeculation of the left ventricle. Patients may present with heart failure, arrhythmia, and thromboembolism. LVNC may be isolated or associated with congenital heart defects. The first discovered genetic cause of isolated LVNC was Barth syndrome (BTHS), an X-linked disorder caused by taffazin (TAZ) gene mutation. BTHS is characterized by cardiomyopathy, neutropenia, skeletal myopathy, and growth delay. A newborn male baby was referred to Soonchunhyang University Cheonan Hospital due to cyanosis and dyspnea. Based on findings of cardiomegaly, ST depression, and elevated cardiac enzyme, echocardiography was done, which revealed a hypocontractile, enlarged left ventricle with distinctive trabeculation in the apex. Heparinization for the treatment of myocardial infarction and continuous infusion of milrinone was started. During hospitalization, the TAZ gene mutation was detected in the patient, his mother, and elder sister. After 3 months, the patient was discharged with heart failure medication and aspirin.

A Study of the Association between Enabled Homolog Gene Polymorphisms and Kawasaki Disease in Korean Children

OBJECTIVE: The etiology of the Kawasaki disease (KD) remains unknown despite of extensive studies but infection, immunity, and genetics were suggested as causes. There have been attempted to link susceptibility to KD to allelic variations to search related gene. The enabled homolog (Enah) gene on the human chromosome 1q42.12 encodes enabled/vasodilator-stimulated phosphoprotein (Ena/VASP). Ena/VASP is a regulator of actin cytoskeleton, exists in cytoplasm, and maintains homeostasis such as immune response, blood vessel preservation, and hemostasis. The aim of this study was to investigate polymorphisms of the Enah gene as a risk factor for KD and coronary artery lesions (CALs) as a complication. METHODS: In the Enah gene region, 15 single nucleotide polymorphisms (SNPs) were selected using human SNP websites (http://www.hapmap.org/, genome build). Three hundred and six healthy controls and 106 KD subjects were recruited. SNP genotyping was performed using the Golden Gate assay on an Illumina BeadStation 500 GX (Illumina Inc., San Diego, CA, USA). Frequencies of allele were obtained and the genetic association between of the Enah gene polymorphisms and susceptibility to KD and CALs was analyzed by SNPstats, Haploview software ver. 4.1 (Broad Institute, Cambridge, MA, USA). Multiple logistic regression analysis with adjustment for gender was performed. RESULTS: One SNP (rs1891000) among total fifteen SNPs was associated with KD. Moreover, we found a significant association between rs487591, rs576861, rs7555139, rs10799319, and the development of CALs in KD patients. CONCLUSION: These results suggest that the polymorphism of Enah gene may be associated with the occurrence of KD and development of CALs as a complication.

Clinical outcome of acute myocarditis in children according to treatment modalities / 소아과

PURPOSE: There is currently little evidence to support intravenous immune globulin (IVIG) therapy for pediatric myocarditis. The purpose of our retrospective study was to assess the effects of IVIG therapy in patients with presumed myocarditis on survival and recovery of ventricular function and to determine the factors associated with its poor outcome. METHODS: We reviewed all consecutive cases of patients with myocarditis with left ventricular dysfunction verified by echocardiogram who had visited 3 university hospitals between January 2000 and September 2009. These patients were divided into 2 groups. Group 1 consisted of 23 patients (69.6%) who received IVIG alone or IVIG in combination with steroids, and group 2 consisted of 10 patients (30.3%) who received neither IVIG nor other immunosuppressive agents. Clinical manifestations, laboratory results, echocardiographic findings, and outcomes were compared between these 2 groups. RESULTS: One year after the initial presentation, the difference in the probability of survival did not show statistical significance in IVIG-treated patients (P=0.607). Of the echocardiographic parameters on admission, a shortening fraction of less than 15% was associated with unremitting cardiac failure. Furthermore, anemic patients were more likely to have elevated N-terminal fragment levels of the B-type natriuretic peptide (NT-proBNP) in the progressed group (P=0.036). CONCLUSION: There was no difference between the IVIG-treated patients and the control patients in the degree of recovery of left ventricular function and survival. Prospective, randomized, clinical studies are needed to elucidate the effects of IVIG treatment during the acute stage of myocarditis on ultimate outcomes.

Complete Atrioventricular Block in an Adolescent With Rheumatic Fever

Rheumatic fever is an acute inflammatory sequela following a group A, beta-hemolytic streptococcal infection. Rheumatic fever is characterized by polyarthritis, carditis, chorea, subcutaneous nodules, and erythema marginatum as the major diagnostic criteria. Rarely, advanced heart block may also occur. A 13-year-old boy was admitted to the Pediatric Department for evaluation and management of complete atrioventricular block. The patient had exertional dyspnea for 1 month. Based on the findings of mitral regurgitation, fever, elevated acute phase reactants, and a high antistreptolysin O titer, the patient was diagnosed with rheumatic fever. A benzathine penicillin injection was administered, as well as salicylate therapy. On the 5th day of hospitalization, the electrocardiogram revealed a normal sinus rhythm with a 1st degree atrioventricular block. After discharge, the electrocardiogram normalized with the monthly penicillin injections. Herein we report a case of complete atrioventricular block associated with rheumatic fever. The heart block resolved without specific cardiac treatment, other than a non-steroidal anti-inflammatory medication.

The Usefulness of N-terminal Pro-Brain Natriuretic Peptide in the Diagnosis of the Kawasaki Disease

PURPOSE: Kawasaki disease (KD) is a well-known generalized vasculitis involving cardiovascular system and there is no specific biochemical marker for detecting this disease. We performed a study to investigate the usefulness of plasma NT-proBNP as a biochemical marker for the diagnosis of KD. METHODS: We measured the plasma NT-proBNP concentrations in acute (complete KD, n=48; incomplete KD, n=10) and convalescent (n=31) phases of KD, and in patients with other acute febrile diseases (n=24) associated with rash or cervical lymphadenitis. RESULTS: The plasma NT-proBNP concentrations in patients with both complete and incomplete KD in the acute phase were significantly higher than in those with febrile illness (complete KD, 1211.9+/-1653.7 pg/mL; incomplete KD, 2245.9+/-2720.7 pg/mL versus febrile illness, 138.8+/-104.9 pg/mL; P<0.001). Also, the level of plasma NT-proBNP decreased significantly in the convalescent phase compared with level of NT-proBNP in acute phase (n=31, acute phase, 1390.2+/-1891.8 pg/ml; convalescent phase, 88.3+/-125.3 pg/mL; P<0.001). There were no significant correlations between the plasma concentrations of NT-proBNP and the clinical, laboratory and echocardiographic findings of acute phase of KD. The best cut-off level of NT-proBNP for the differential diagnosis of KD with other febrile disease was determined to be 287.0 pg/mL (sensitivity 0.862, specificity 0.917). CONCLUSION: We suggest that the measurement of plasma NT-proBNP level may be helpful for the definite diagnosis of KD, especially incomplete KD. Further studies are needed to investigate the usefulness of the NT-proBNP as a predictive marker for cardiovascular complications.

A Case of Epiploic Appendagitis Presented with Right Lower Quadrant Pain of Abdomen / 대한소아소화기영양학회지

An inflammation of an epiploic appendage is a relatively rare cause of acute abdominal pain. It can be clinically misdiagnosed as either acute appendicitis or diverticulitis. Judicious interpretation of imaging with ultrasound or computed tomography may lead to an early diagnosis and prevent unnecessary surgical or medical treatment. Conservative treatment of symptoms is usually sufficient. We have experienced a case of epiploic appendagitis treated by conservative management and report this case with the review of the literature.

A Case of Kawasaki Disease in a 16-year-old Girl Associated with Congestive Heart Failure

Kawasaki disease is an acute febrile vasculitis of childhood and leading cause of acquired heart disease in children. The illness occurs predominantly in young children and only occasionally occurs in teenagers and adults. So we report a case of adolescent-onset Kawasaki disease associated with congestive heart failure and development of coronary dilatation. A 16-year-old girl presented with fever, truncal rash, congestive heart failure due to myocarditis, bilateral conjunctival injection, strawberry tongue, redness of hands and feet, and cervical adenopathy. After Kawasaki disease was diagnosed, intravenous gamma globulin(2 g/kg) and aspirin(70 mg/kg/day) were administered. On the 20th hospital day, echocardiography showed moderate dilatation of right coronary artery. Four months after the discharge, follow up echocardiography showed sustained dilatation of right coronary artery.

A Case of Kawasaki Disease in a 16-year-old Girl Associated with Congestive Heart Failure

Kawasaki disease is an acute febrile vasculitis of childhood and leading cause of acquired heart disease in children. The illness occurs predominantly in young children and only occasionally occurs in teenagers and adults. So we report a case of adolescent-onset Kawasaki disease associated with congestive heart failure and development of coronary dilatation. A 16-year-old girl presented with fever, truncal rash, congestive heart failure due to myocarditis, bilateral conjunctival injection, strawberry tongue, redness of hands and feet, and cervical adenopathy. After Kawasaki disease was diagnosed, intravenous gamma globulin(2 g/kg) and aspirin(70 mg/kg/day) were administered. On the 20th hospital day, echocardiography showed moderate dilatation of right coronary artery. Four months after the discharge, follow up echocardiography showed sustained dilatation of right coronary artery.

Evaluation of Cerebral Metabolism for Children Undergoing Open Heart Surgery for Atrial Septal Defect Using Proton Magnetic Resonance Spectroscopy

BACKGROUND AND OBJECTIVES: The purpose of this study was to investigate whether a brief cardiopulmonary by-pass, with mild hypothermia and normal flow, would have any deleterious effects on brain metabolism in children. This is the first study using localized in vivo proton magnetic resonance spectroscopy (1H-MRS) in brains of children with ASD undergoing open-heart surgery (OHS). SUBJECTS AND METHODS: Seven children undergoing surgical closure of ASD, with mild hypothermia and normal flow cardiopulmonary by-pass, were studied. Their ages ranged from 18 to 47 months, and body weights ranged from 11 to 17 kg. We performed 1H-MRS before OHS, and 1-3 months after, then compared the values of brain metabolite ratios before and after surgery. The values from our patients were compared to those from 12, age-matched, normal children. All MR imaging, and localized 1H-MRS, were performed using a GE 1.5T SIGNA system (General Electric Medical System, Milwaukee, USA). Image guided STEAM-spectra were obtained from, the parietal white matter (PWM), and occipital gray matter (OGM), with TE of 30 msec, and TR of 3 sec, using a PROton Brain Exam (PROBE) (General Electric Medical System, Milwaukee, USA). RESULTS: All metabolite ratios, measured by 1H-MRS, from patients before surgery showed no significantly difference from postoperative values. However, [choline/creatine] ratios, obtained from PWM, were higher in both pre- and postoperative ASD patients, as compared to those of normal children. CONCLUSION: We concluded, that brain metabolism, measured by 1H-MRS, does not change significantly after OHS, for children with ASD, with mild hypothermia and normal flow.