Changes of clinical characteristics and outcomes in patients with Kawasaki disease over the past 7 years in a single center study.

PURPOSE: This single-center study was conducted to assess the changes in epidemiological and clinical characteristics and outcomes of patients with Kawasaki disease (KD) over the past 7 years. METHODS: This retrospective study included 135 children with KD, admitted to Chungnam National University Hospital, Daejeon, between 2004 and 2005 (group A, n=53) and between 2011 and 2012 (group B, n=82). Medical records were reviewed to obtain information regarding the presenting signs and symptoms, demographic characteristics, and laboratory and echocardiographic findings associated with KD. RESULTS: The hospital admission date after onset was significantly earlier in group B than in group A (P=0.008). The proportion of patients with incomplete KD was 45.3% and 65.9% in group A and B, respectively (P=0.018). The number of pretreatment coronary artery lesions (CALs) were significantly lesser in group B than in group A. (10/53 vs. 5/82, P=0.021). No significant differences was observed in the incidence of CALs at discharge, febrile phase duration, hospital stay duration, incidence of retreatment, and intravenous immunoglobulin dose between 2 groups. The total febrile phase was shorter in patients with incomplete KD than in those with complete KD in both groups. CONCLUSION: The proportion of incomplete KD has become higher. Furthermore, early admission and management of patients with KD may be related to increased incomplete KD and decreased CALs. Therefore, we believe that a diagnostic strategy for incomplete KD should be established regardless of the presence of coronary lesions.

Successful use of low molecular weight heparin in intracardiac thrombus of an extremely low birth weight infant.

The sick premature infants have high risk for thrombosis. Although therapeutic options include close observation, anticoagulation, thrombolytic therapy, and thrombectomy, guidelines for the management of neonatal arterial and venous thrombosis vary greatly among different centers. The authors report their experience using low molecular weight heparin (enoxaparin), with safe and successful resolution of right atrial thrombus, in an extremely low birth weight infant.

Clinical and radiologic evaluation of cytomegalovirus-induced thrombocytopenia in infants between 1 and 6 months of age.

BACKGROUND: Up to 90% of neonates with congenital or perinatal cytomegalovirus (CMV) infection are asymptomatic, and little is known about CMV-associated thrombocytopenia after the neonatal period. We investigated the clinical findings of a series of infants diagnosed with CMV infection and thrombocytopenia. METHODS: From July 2005 to July 2008, infants aged younger than 6 months with thrombocytopenia were screened for CMV infection, using CMV IgM. Those who were positive for CMV IgM were then tested for CMV IgG via polymerase chain reaction (PCR) for CMV and CMV pp65 Ag and urine culture. Brain magnetic resonance imaging (MRI) and otologic and ophthalmologic evaluations were also performed. RESULTS: Twenty-one patients aged between 1 and 6 months (11 boys and 10 girls) were admitted and tested for CMV infection. Six patients (28.6%) were positive for CMV IgM; these were also positive for CMV IgG, CMV PCR, and urine culture, and 4 were also positive for CMV pp65 Ag. The median platelet count at admission was 6,500/µL (range, 2,000-105,000/µL). One patient (16.7%) was diagnosed with Evans syndrome and had calcifications on brain MRI. One patient had unilateral sensorineural hearing loss. CONCLUSION: Thrombocytopenia can be the main clinical manifestation of otherwise asymptomatic CMV infection after the neonatal period, and close follow-up of neurodevelopmental sequelae is needed.

A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia.

Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by pure red cell aplasia, various congenital anomalies, and cancer predisposition. We report a novel mutation in the RPS17 gene in a Korean patient with DBA. The mutation occurred in the translation initiation codon, changing Atg to Gtg (c.1A>G), thus disrupting the natural start of the RPS17 protein biosynthesis. This is the third case of DBA from a RPS17 mutation in the literature and is the second case of a RPS17 mutation in the translation initiation codon, following c.2T>G.