Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cases, it is the most common feature described in patients who present the 5q33.3q35.1 deletion. Here, we report a case of a de novo deletion of 5q33.3q35.1, 46,XY,del(5)(q33.3q35.1) in an 11-year-old boy with mental retardation; to the best of our knowledge this is the first case in Korea to be reported. He was diagnosed with severe mental retardation, developmental delay, facial dysmorphisms, dental anomalies, and epilepsy. Chromosomal microarray analysis using the comparative genomic hybridization array method revealed a 16-Mb-long deletion of 5q33. 3q35.1(156,409,412-172,584,708)x1. Understanding this deletion may help draw a rough phenotypic map of 5q and correlate the phenotypes with specific chromosomal regions. The 5q33.3q35.1 deletion is a rare condition; however, accurate diagnosis of the associated mental retardation is important to ensure proper genetic counseling and to guide patients as part of long-term management.

PurposeChronic upper airway obstruction causes hypoxemic pulmonary vasoconstriction, which may lead to right ventricle (RV) dysfunction. Adenotonsillar hypertrophy (ATH) is the most common cause of upper airway obstruction in children. Therefore, we aimed to evaluate RV function in children with ATH.MethodsTwenty-one children (male/female, 15/6; mean age, 92.3¡¾39.0 months; age range, 4-15 years) with ATH and 21 healthy age- and gender-matched controls were included in this study. Tricuspid annular plane systolic excursion and RV myocardial performance index were measured by transthoracic echocardiography. Further, the plasma level of N-terminal of probrain natriuretic peptide (NT-proBNP), an indicator of RV function, was determined.ResultsThe snoring-tiredness during daytime-observed apnea-high blood pressure (STOP) questionnaire was completed by the patients' parents, and loud snoring was noted in the ATH group. The plasma NT-proBNP level was significantly higher in the ATH group than that in the controls (66.44±37.63 pg/mL vs. 27.85±8.89 pg/mL, P=0.001). The echocardiographic parameters were not significantly different between the groups.ConclusionWe were unable to confirm the significance of echocardiographic evidence of RV dysfunction in the management of children with ATH. However, the plasma NT-proBNP level was significantly higher in the ATH group than that in the control, suggesting that chronic airway obstruction in children may carry a risk for cardiac dysfunction. Therefore, more patients should be examined using transthoracic echocardiography. In addition, pediatricians and otolaryngologists should consider cardiologic aspects during the management of children with severe ATH.

Kawasaki disease (KD) is an immune-mediated disease which is a leading cause of acquired cardiovascular disease in developed country. Recently, tumor necrosis factor-alpha (TNF-alpha) blocker, infliximab has been considered a promising option for patients with refractory KD. Although chronic use of a TNF-alpha blocker could increase risk of opportunistic infections, a few studies have documented that use of infliximab was safe without serious adverse effects in patients with KD. We observed serious bacterial infection after infliximab treatment in an infant with refractory KD. Our patient was a 5-month-old male infant diagnosed with KD who did not respond to repeated doses of intravenous immunoglobulin. We effectively treated him with a single infusion of infliximab (5 mg/kg), but gram-negative (Acinetobacter lwoffii) septicemia developed after infliximab infusion. Therefore, we report a case of serious septicemia after treatment with infliximab, and suggest considering the risk of severe infection when deciding whether to prescribe infliximab to an infant with refractory KD.