Pulmonary hypertension due to obstructive sleep apnea in a child with Rubinstein-Taybi syndrome / 소아과

Rubinstein-Taybi syndrome (RTS) is characterized by peculiar facies, mental retardation, broad thumbs, and great toes. Approximately one-third of the affected individuals have a variety of congenital heart diseases. They can also have upper airway obstruction during sleep, due to hypotonia and the anatomy of the oropharynx and airway, which make these patients susceptible to obstructive sleep apnea (OSA). In our case, pulmonary hypertension was caused, successively, by congenital heart defects (a large patent ductus arteriosus and arch hypoplasia) and obstructive sleep apnea during early infancy. The congenital heart defects were surgically corrected, but persistent pulmonary hypertension was identified 2 months after the operation. This pulmonary hypertension was due to OSA, and it was relieved by nasal continuous positive airway pressure. This case is the first report of pulmonary hypertension from OSA in a young infant with RTS.

Pulmonary hypertension due to obstructive sleep apnea in a child with Rubinstein-Taybi syndrome / 소아과

Rubinstein-Taybi syndrome (RTS) is characterized by peculiar facies, mental retardation, broad thumbs, and great toes. Approximately one-third of the affected individuals have a variety of congenital heart diseases. They can also have upper airway obstruction during sleep, due to hypotonia and the anatomy of the oropharynx and airway, which make these patients susceptible to obstructive sleep apnea (OSA). In our case, pulmonary hypertension was caused, successively, by congenital heart defects (a large patent ductus arteriosus and arch hypoplasia) and obstructive sleep apnea during early infancy. The congenital heart defects were surgically corrected, but persistent pulmonary hypertension was identified 2 months after the operation. This pulmonary hypertension was due to OSA, and it was relieved by nasal continuous positive airway pressure. This case is the first report of pulmonary hypertension from OSA in a young infant with RTS.

Identification of Novel Compound Heterozygous Mutations in the ACADS Gene of an Asymptomatic Korean Newborn with Short Chain Acyl-CoA Dehydrogenase Deficiency by Tandem Mass Spectrometry

Short-chain acyl-CoA dehydrogenase deficiency (SCADD; OMIM # 201470) is an autosomal recessive inborn error of mitochondrial fatty acid beta-oxidation, presenting with a variety of clinical signs and symptoms. Developmental delay, hypertonia or hypotonia, ketotic hypoglycemia, and epilepsy are most frequently reported. In general, patients diagnosed through newborn screening have shown normal growth and development in contrast to those diagnosed as a result of clinically initiated evaluations. Here, the case of an asymptomatic Korean newborn with SCADD identified by tandem mass spectrometry is reported. The patient showed an elevated concentration of butyrylcarnitine detected on newborn screening. Urinary excretion of ethylmalonic acid was elevated by urine organic acid analysis. To confirm the diagnosis of SCADD, a direct sequencing analysis of 10 coding exons and the exon-intron boundaries of the ACADS gene were performed. Genetic analysis of ACADS showed the following novel compound heterozygous missense mutations: c.277C>A (p.Leu93Ile) on exon3 and c.682G>A (p.Glu288Lys) on exon6. These results will provide further evidence of mutational heterogeneity for SCADD.

Detection rate and clinical impact of respiratory viruses in children with Kawasaki disease / 소아과

PURPOSE: The purpose of this prospective case-control study was to survey the detection rate of respiratory viruses in children with Kawasaki disease (KD) by using multiplex reverse transcriptase-polymerase chain reaction (RT-PCR), and to investigate the clinical implications of the prevalence of respiratory viruses during the acute phase of KD. METHODS: RT-PCR assays were carried out to screen for the presence of respiratory syncytial virus A and B, adenovirus, rhinovirus, parainfluenza viruses 1 to 4, influenza virus A and B, metapneumovirus, bocavirus, coronavirus OC43/229E and NL63, and enterovirus in nasopharyngeal secretions of 55 KD patients and 78 control subjects. RESULTS: Virus detection rates in KD patients and control subjects were 32.7% and 30.8%, respectively (P=0.811). However, there was no significant association between the presence of any of the 15 viruses and the incidence of KD. Comparisons between the 18 patients with positive RT-PCR results and the other 37 KD patients revealed no significant differences in terms of clinical findings (including the prevalence of incomplete presentation of the disease) and coronary artery diameter. CONCLUSION: A positive RT-PCR for currently epidemic respiratory viruses should not be used as an evidence against the diagnosis of KD. These viruses were not associated with the incomplete presentation of KD and coronary artery dilatation.

Diagnosis of Incomplete Kawasaki Disease in Infants Based on an Inflammation at the Bacille Calmette-Guerin Inoculation Site

BACKGROUND AND OBJECTIVES: This study was intended to test how the inflammation at the Bacille Calmette-Guerin (BCG) inoculation site (BCGitis) can be a useful a diagnostic feature of Kawasaki disease (KD). SUBJECTS AND METHODS: All subjects were infants at the time of admission, and had received BCG vaccination during their neonatal period. There were 54 patients with complete KD (group 1) and 29 patients with incomplete KD (group 2). All 83 patients had BCGitis during the acute phase of illness. Data regarding the coronary artery diameters in 31 age-matched controls were used for comparison. RESULTS: The 2 patient groups did not differ in clinical and laboratory variables. During the acute phase, the median z scores of the left anterior descending coronary artery (LAD) diameter were 0.20, 0.42, and -0.48 in groups 1, 2, and control respectively, and that of right coronary artery (RCA) diameters were -0.15, -0.16, and -1.17 respectively. The z scores in both patient groups were greater than those in controls (p=0.0014 in LAD and p<0.0001 in RCA between group 1 and controls; p=0.0023 in LAD and p<0.0001 in RCA between group 2 and controls). A similar pattern was observed during the subacute and convalescent phases. CONCLUSION: BCGitis is a useful feature in the diagnosis of incomplete KD in infants who received BCG vaccine during neonatal period.

Log-transformed plasma level of brain natriuretic peptide during the acute phase of Kawasaki disease is quantitatively associated with myocardial dysfunction / 소아과

PURPOSE: Brain natriuretic peptide (BNP) has been considered a biochemical marker for myocarditis in Kawasaki disease. We performed this study to determine its quantitative significance. METHODS: We attempted to correlate log-transformed BNP concentrations (log-BNP) and clinical, laboratory, and echocardiographic variables in 81 children with Kawasaki disease. Stepwise multiple linear regression analysis was used to determine the variables independently associated with log-BNP concentration. RESULTS: Serum C-reactive protein level (P<0.0001), serum alanine aminotransferase concentration (P=0.0032), white blood cell count (P=0.0030), and left ventricular mass index (P=0.0024) were positively related with log-BNP, and hemoglobin level (P<0.0001), serum albumin level (P<0.0001), Na+ concentrations (P<0.0001), left ventricular fractional shortening (P=0.0080), and peak early diastolic tissue velocity of the left ventricular basal lateral segment (P=0.0045) were negatively related to the log-BNP concentration. Multiple regression analysis showed that serum albumin concentration (R2=0.31, P=0.0098) and left ventricular mass index (R2=0.09, P=0.0004) were significantly associated with the log-BNP concentration. CONCLUSION: Elevated BNP levels during the acute phase of Kawasaki disease may be attributable to cardiac dysfunction associated with the increase in left ventricular mass, and log-BNP concentration may be a quantitative biochemical marker of myocarditis in Kawasaki disease.

Therapeutic response of cyclosporine and outcome in steroid resistant nephrotic syndrome / 소아과

PURPOSE: The aim of our study was to evaluate the therapeutic response to cyclosporine, time to remission and side effects in steroid resistant nephrotic syndrome (SRNS). METHODS: This study included 22 children with idiopathic SRNS who were treated with cyclosporine between June 1989 and August 2006. Medical records were reviewed retrospectively. RESULTS: The mean age of patients at diagnosis was 5.2+/-3.3 years. The male to female ratio was 1.2:1. Pre-treatment renal biopsies showed minimal change (MCD) in 12 (54.5%), focal segmental glomerulosclerosis (FSGS) in 8 (36.4%), membranous nephropathy (MGN) in one (4.5%) and mesangioproliferative glomerulonephritis in one (4.5%). 15 (68.2%) patients responded to cyclosporine, of whom 11 (91.6%) patients were MCD, 3 (37.5%) patients FSGS, and 1 patient MGN (MCD vs FSGS, P<0.05). The time to remission in patients who responded to cyclosporine was 31.5+/-15.2 days. Four of the 15 cyclosporine responders maintained complete remission even after cessation of the medication Seven still received cyclosporine, 2 were intermittently treated with steroids after discontinuation of cyclosporine, and two were treated with cyclosporine and steroids. The mean duration of cyclosporine therapy was 546.5+/-346.2, 1,392.9+/-439.7, 439.5+/-84.1, and 433.5+/-74.2 days, respectively. We performed post-treatment biopsies in 8 patients and partial interstitial fibrosis and tubular atrophy were found in two. CONCLUSION: The thrapeutic response of cyclosporine is good in steroid resistant nephrotic syndrome, especially in minimal change. But, there is a problem of long term cyclosporine dependency.

A Case of Scalp AV Malformation Cured by Embolization

Congenital arteriovenous malformation of the scalp is a relatively rare disease, and its treatment remains challenging because of the unpredictable behavior and high recurrence rate. We report herein a case of an 8 days old male referred for a pulsating scalp mass in the right parietal area with congestive heart failure which was found to be due to AV malformation of the scalp. Embolization of two feeding arteries arising from the right superficial temporal artery on day of life 11 resulted in a complete cure without recurrences.