Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome.

Noonan syndrome is an autosomal dominant, multisystem disorder. Autoimmune thyroiditis with hypothyroidism is an infrequent feature in patients with Noonan syndrome. A 16-year-old boy was admitted because of chest discomfort and dyspnea; an echocardiogram revealed pericardial effusion. Additional investigations led to a diagnosis of severe hypothyroidism due to Hashimoto thyroiditis. The patient was treated with L-thyroxine at 0.15 mg daily. However, during admission, he developed symptoms of cardiac tamponade. Closed pericardiostomy was performed, after which the patient's chest discomfort improved, and his vital signs stabilized. Herein, we report a case of an adolescent with Noonan syndrome, who was diagnosed with Hashimoto thyroiditis with an unusual presentation of cardiac tamponade.

Clinical Utility of Echocardiography for the Diagnosis and Prognosis in Children with Bronchopulmonary Dsyplasia.

BACKGROUND: Bronchopulmonary dysplasia (BPD) may result in chronic pulmonary artery hypertension and right ventricular (RV) dysfunction. Various echocardiographic assessments of RV dysfunction have been used to determine whether echocardiographic measurements of premature infants with BPD could provide sensitive measures of RV function that correlates with BPD severity. METHODS: Twenty-eight control subjects without BPD (non BPD group), 28 patients with mild BPD, 11 patients with moderate BPD, and six patients with severe BPD underwent echocardiograms with standard measurement such as ejection fraction by M-mode, tricuspid regurgitation pressure gradient, myocardial performance index (MPI) derived from pulse Doppler, and tissue Doppler imaging (TDI) measurements. BPD severity was classified by the NICHD/NHLBI/ORD workshop rating scale. Twenty-eight control subjects without BPD (non BPD group), 28 patients with mild BPD, 11 patients with moderate BPD, and six patients with severe BPD underwent echocardiograms with standard measurement such as ejection fraction by M-mode, tricuspid regurgitation pressure gradient, myocardial performance index (MPI) derived from pulse Doppler, and TDI measurements. BPD severity was classified by the NICHD/NHLBI/ORD workshop rating scale. RESULTS: None of the standard echocardiographic findings was significantly different between the control group and BPD groups. However, mean septal TDI-MPI of the severe BPD group (0.68 ± 0.06) was significantly (p < 0.01) higher than that of the non-BPD (0.58 ± 0.10) or the mild BPD group (0.59 ± 0.12). In addition, mean RV TDI-MPI of the severe BPD group (0.71 ± 0.13) was significantly (p < 0.05) higher than that of the non-BPD group (0.56 ± 0.08) or the mild BPD group (0.60 ± 0.125). Linear regression showed a good correlation between the severity of BPD and RV TDI-MPI (p = 0.01, R = 0.30) or septal TDI-MPI (p = 0.04, R = 0.24). CONCLUSION: Echocardiographic evaluation of RV function based on an assessment of RV TDI-MPI can provide RV dysfunction parameter in premature infants with BPD.

Chemical pleurodesis using a Viscum album extract in infants with congenital chylothorax.

UNLABELLED: Congenital chylothorax is a rare condition, but it is the most common cause of pleural effusion in neonates and infants. Here, we report on the first trials of the intrapleural instillation of an extract of Viscum album (European mistletoe) (Abnobaviscum Q®) in two infants with congenital chylothorax that was refractory to standard conservative management and thoracic duct ligation. CONCLUSION: The clinical course of both children improved with no side effects related to the extract after following up the children for 2 years and 9 months, respectively. Randomized multicenter prospective studies will help determine the effectiveness of pleurodesis with a V. album extract and the occurrence of long-term side effects with this agent.

Total anomalous pulmonary venous return in siblings.

Total anomalous pulmonary venous return (TAPVR) is a rare and critical congenital vascular anomaly that requires an early operation. However, initial symptoms of TAPVR may be non-specific, and cardiovascular findings may be minimal. The heart may not be enlarged and there is often no cardiac murmur. Without cardiac murmur, these symptoms are similar to those of respiratory distress syndrome in newborns. Therefore, a high degree of suspicion and an early diagnosis of TAPVR are important. This condition generally occurs without a family history and has a low recurrence rate, but several familial cases, including siblings, have been reported worldwide. Additionally, several chromosomal or gene abnormalities associated with TAPVR have been reported. In the case presented here, two brothers with a 6-year age gap were diagnosed with TAPVR. Surgery was performed without cardiac or neurological complications. This is the first report on TAPVR in siblings in Korea.

Procalcitonin levels in patients with complete and incomplete Kawasaki disease.

Incomplete Kawasaki disease (iKD) is considered to be a less complete form of Kawasaki disease (cKD), and several differences in the laboratory presentations of iKD and cKD have been noted. We investigated serum procalcitonin levels in patients with iKD, cKD, and other febrile diseases (a control group). Seventy-seven patients with cKD, 24 with iKD, and 41 controls admitted to our hospital from November 2009 to November 2011 were enrolled in the present study. We obtained four measurements of serum procalcitonin levels and those of other inflammatory markers from each patient. Samples were taken for analysis on the day of diagnosis (thus before treatment commenced; D0) and 2 (D2), 14 (D14), and 56 days (D56) after intravenous immunoglobulin infusion. We obtained control group data at D0. The mean D0 serum procalcitonin levels of cKD patients (0.71 ± 1.36 ng/mL) and controls (0.67 ± 1.06 ng/mL) were significantly higher than those of iKD patients (0.26 ± 0.26 ng/mL) (P = 0.014 and P = 0.041, resp.). No significant difference in mean procalcitonin level was evident among groups at any subsequent time. In conclusion, the serum procalcitonin level of patients with acute-stage cKD was significantly higher than that of iKD patients.

Random urinary calcium/creatinine ratio for screening hypercalciuria in children with hematuria.

BACKGROUND: Hypercalciuria is one of the most common causes of unexplained isolated hematuria. The diagnostic methods for hypercalciuria have not yet been standardized. The aim of this study was to assess whether random urinary calcium/creatinine ratio could be used as a screening tool for hypercalciuria in children with hematuria. METHODS: This prospective study included 264 children with primary hematuria for whom both random and 24 hr urinary evaluations were performed. Pearson correlation and ROC curve were used to assess the correlations. A multiple linear regression model was used to analyze effects of age, weight, height, body mass index, and body surface area on random urinary calcium/creatinine ratio. RESULTS: There was a moderately strong correlation between random urinary calcium/creatinine ratio and 24 hr urinary calcium excretion (r=0.584, P<0.001). The most appropriate cutoff value of random urinary calcium/creatinine ratio for the estimation of hypercalciuria was 0.075 mg/mg (sensitivity, 77.8%; specificity, 64.3%; area under the curve, 0.778). Body mass index and 24 hr urinary calcium excretion significantly affected random urinary calcium/creatinine ratio with a low coefficient of determination (r(2)=0.380, P<0.001). CONCLUSIONS: Random urinary calcium/creatinine ratio is not suitable for screening hypercalciuria in children with hematuria. Twenty-four hour urinary analysis should be performed to diagnose hypercalciuria in children with hematuria.

Transvenous proximal closure of large congenital coronary arteriovenous fistula using the single Amplatzer vascular plug in a 3-year-old girl.

Congenital coronary arteriovenous fistulas (CCAFs) are rare coronary artery abnormalities in which blood is shunted into a cardiac chamber or great vessel. If the fistula itself is large and tortuous, it is generally recommended to occlude the fistula to prevent several complications. In approaches of transcatheter occlusion, the transvenous approach is preferred over the transarterial approach. The transvenous approach would enable the cannulation of a relatively larger catheter or sheath without potential damage to the femoral vessels or normal coronary arteries, which can occur in the transarterial approach. The transvenous approach may also minimize the blind pouch after releasing the devices. Herein, we report the success of transvenous proximal closure of a CCAF using an Amplatzer vascular plug (AVP) in a 3-year-old patient with cardiomegaly. Complete occlusion was achieved by a single AVP and thrombus formation of the distal aneurysmal portion of the fistula. We suggest that this strategy of closing the proximal end with a dilated fistula using a single AVP by the transvenous approach may be a good option in treating CCAFs in a young child.