Hallermann-Streiff syndrome is a very rare congenital disorder, which is primarily characterized by the head and face abnormalities. Approximately 180 cases have been reported worldwide, including 8 cases in Korea since it was first described by Hallermann in 1893. Patients exhibit a bird-like face, hypotrichosis, atrophy of skin, dental abnormalities, proportionate nanism, and various ophthalmic disorders, including congenital cataracts and bilateral micropthalmia. As a result of many life-threatening complications, such as respiratory and cardiac difficulties, many patients die during infancy. We report here two cases of HSS diagnosed immediately after birth with literature reviews. They showed two additional characteristics, including chubby cheeks and antenatal ultrasonographic findings, which have not been mentioned in previous reports.
Atrophy ; Cataract ; Cheek ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Dwarfism ; Hallermann's Syndrome ; Head ; Humans ; Hypotrichosis ; Korea ; Microphthalmos ; Parturition ; Skin

PURPOSE: Indomethacin has been reported as the prophylaxis and initial treatment of preterm infants with patent ductus arteriosus (PDA). However, there was controversy over indomethacin treatment in full-term infants with symptomatic PDA. Therefore, we evaluate the effect of indomethacin as a treatment of full-term infants with symptomatic PDA. METHODS: A retrospective study was performed to evaluate the effectiveness of indomethacin in full-term infants who had birth weight > or =2,500 g and a gestational age > or =37 weeks with symptomatic PDA at Chonnam National University Hospital between January 2007 and December 2009. According to responsiveness of indomethacin, we classified them into three groups: 1) complete responder which were completely closed after indomethacin treatment, 2) partial responder which were incompletely closed but symptoms were improved, 3) non responder which were conducted surgical ligation because did not respond. RESULTS: Among the total 29 full-term infants treated with indomethacin, 13 (44.8%) were complete responder, 8 (27.6%) were partial responder, and 8 (27.6%) were non responder. There were no significant differences in birth weight, narrow diameter of PDA, and dose of indomethacin between three groups. However, the age at initiation of treatment using indomethacin of complete (4.8+/-4.5 days, P=0.03) and partial responder (6.3+/-2.0 days, P=0.04) were earlier than those of non responder (13.8+/-8.1 days). CONCLUSION: Indomethacin can expect an effective treatment of PDA in full-term infants prior to surgical ligation.
Birth Weight ; Ductus Arteriosus, Patent* ; Gestational Age ; Humans ; Indomethacin* ; Infant* ; Infant, Newborn ; Infant, Premature ; Jeollanam-do ; Ligation ; Retrospective Studies

PURPOSE: Benign childhood epilepsy with centrotemporal spikes (BECTS) is known to have a good prognosis, and is easily controlled with antiepileptic drugs. In this study, we evaluate the efficacy of low-dose topiramate (TPM), once at night time in children with BECTS, and compare with that of oxcarbazepine (OXC). METHODS: OXC was used as a first drug in 58 patients with BECTS at the department of pediatrics, Chonnam National University hospital from Jan. 2003 to Nov. 2010. Their medical records were reviewed, focusing on the onset age of seizure, the dosage of drugs, response to treatment and other clinical features. Since Aug. 2008 through Apr. 2011, some newly diagnosed patients with BECTS were given a low-dose (25mg) of TPM, once at nighttime. The efficacy was reviewed in 14 children, who had been followed up in the outpatient clinic for longer than twelve months. RESULTS: Forty five out of 58 (77.6%) patients were well controlled with OXC. Thirteen out of 58 (22.4%), seizures recurred, on whom TPM (n=9) or lamotrigine (n=4) was added. Nine (64.3%) of the 14 patients who were started with low dose TPM became seizure-free for at least 12 months. However, Two out of 14, the dose of TPM had to be increased up to 100 mg/day and 75 mg/day, respectively. In three, seizure was controlled with OXC. CONCLUSION: A single low-dose TPM would be as effective as the conventional OXC without any adverse effects in children with BECTS.
Age of Onset ; Ambulatory Care Facilities ; Anticonvulsants ; Carbamazepine ; Child ; Epilepsy ; Epilepsy, Rolandic ; Fructose ; Humans ; Medical Records ; Pediatrics ; Prognosis ; Seizures ; Triazines

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.
Bronchopulmonary Dysplasia ; Child* ; Diagnosis* ; Echocardiography* ; Education ; Humans ; Hypertension ; Infant, Newborn ; Infant, Premature ; Linear Models ; Prognosis* ; Pulmonary Artery ; Tricuspid Valve Insufficiency ; Ventricular Function, Right

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 (r2=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.
Adolescent ; Area Under Curve ; Body Mass Index ; Calcium/*urine ; Child ; Child, Preschool ; Creatinine/*urine ; Female ; Hematuria/*complications ; Humans ; Hypercalciuria/*complications/*diagnosis ; Linear Models ; Male ; Prospective Studies ; ROC Curve ; Sensitivity and Specificity

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.
Early Diagnosis ; Heart ; Heart Murmurs ; Humans ; Infant, Newborn ; Korea ; Recurrence ; Scimitar Syndrome* ; Siblings*

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.
Adolescent ; Cardiac Tamponade* ; Diagnosis ; Dyspnea ; Hashimoto Disease* ; Humans ; Hypothyroidism ; Male ; Noonan Syndrome* ; Pericardial Effusion ; Pericardial Window Techniques ; Thorax ; Thyroiditis, Autoimmune ; Thyroxine ; Vital Signs

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.
Aneurysm ; Arteriovenous Fistula ; Cardiomegaly ; Catheterization ; Catheters ; Child ; Coronary Angiography ; Coronary Vessel Anomalies ; Coronary Vessels ; Fistula ; Glycosaminoglycans ; Humans ; Septal Occluder Device ; Thrombosis