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Background: Severe neonatal hypoglycemia may cause irreversible neurological sequelae. Although blood glucose (BG) screening in term neonates without risk factors for hypoglycemia (non-risk neonates) is not recommended in the current guidelines, severe hypoglycemia can occur in such neonates. To evaluate the necessity of BG screening in non-risk neonates, it is important to determine the accurate incidence of severe hypoglycemia in those neonates., Methods: We conducted a 10 year survey of all normal-weight term neonates diagnosed with severe neonatal hypoglycemia who were treated at secondary- and tertiary-level neonatal centers in Toyama Prefecture, Japan, between January 2011 and December 2020., Results: During the study period, 11 cases of severe neonatal hypoglycemia (six of which occurred in non-risk neonates) were identified. The overall incidence of severe hypoglycemia was 1 in 5,827 normal-weight term births, and the incidence in non-risk neonates was 1 in 10 682 normal-weight term births. All of the cases in non-risk neonates were diagnosed as hyperinsulinemic hypoglycemia., Conclusions: This is the first population-based study to have identified the actual incidence of severe pathological neonatal hypoglycemia in non-risk neonates. The incidence was not low compared with those of the newborn screening disorders, justifying the necessity of BG screening even in non-risk neonates., (© 2022 Japan Pediatric Society.)

Background: Human calmodulin (CALM) gene mutation has been reported to be related to inherited arrhythmia syndromes, but the genotype-phenotype relationship remains unclear., Methods and Results: We report here a 4-year-old boy who had cardiac arrest while playing in a kindergarten playground. Cardiopulmonary resuscitation was initiated immediately. Eleven minutes after the cardiac arrest, ambulance crews arrived and an automated external defibrillator was attached. His heart rhythm, which was ventricular fibrillation (VF), was returned to sinus rhythm after only one shock delivery. The boy was brought to hospital by air ambulance. During transfer, electrocardiogram (ECG) showed transient VF. On arrival, chest radiograph showed a cardiothoracic ratio of 55% without pulmonary congestion. A 12-lead ECG showed a normal sinus rhythm, biphasic T wave, and prolongation of the corrected QT interval. On ECG, VF was preceded by torsade de pointes or frequent polymorphic premature ventricular contractions (PVC). Echocardiography showed a normal heart structure with decreased cardiac function. On the second day of hospitalization, ECG showed remarkable QT prolongation, T-wave alternans, and frequent PVC. Thereafter, propranolol was started. The ECG showed rapid improvement of QT prolongation and T-wave abnormality. Genetic test indicated a CALM2 mutation, and he was diagnosed with long QT syndrome-15 (LQT15)., Conclusions: CALM mutations cause long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT) and idiopathic VF. This patient with a CALM2 p.N98S mutation had both phenotypes of LQTS and CPVT., (© 2019 Japan Pediatric Society.)

Background: Blood sodium and ketone are parameters of dehydration and fasting, respectively. Little is known, however, about the postnatal changes in these parameters in healthy, term, exclusively breast-fed neonates., Methods: Capillary blood sodium, β-hydroxybutyrate (β-OHB), and glucose levels in 628 samples obtained from 392 healthy, term, exclusively breast-fed neonates during the first 12-143 h of life were examined., Results: Blood sodium and β-OHB gradually increased and reached a peak at 48-59 h of life (mean blood sodium, 142.3 ± 2.8 mEq/L; mean blood sodium increase, 3.3 mEq/L; mean β-OHB, 1.16 ± 0.46 mmol/L; mean β-OHB increase, 0.65 mmol/L), and then gradually decreased and reached a nadir at 120-143 h of life. Blood glucose gradually decreased and reached a nadir at 48-59 h of life (mean, 62.4 ± 12.2 mg/dL; mean decrease, 4.7 mg/dL), and then gradually increased and peaked at 120-143 h of life. These changes were synchronized with changes in weight-loss percentage., Conclusions: The postnatal changes in blood sodium, ketone, and glucose levels during the first 12-143 h of life are described in healthy, term, exclusively breast-fed neonates. The parameters seemed to be associated with the sufficiency of the breast-milk supply. These results can serve as normal reference values for healthy, term, exclusively breast-fed neonates during the early postnatal period., (© 2019 Japan Pediatric Society.)

Background: In pediatric patients, syncope commonly occurs as vasovagal syncope, or in epilepsy or orthostatic dysregulation. Cardiogenic syncope is rare but it is lethal, and needs to be promptly diagnosed and treated., Methods and Results: We describe the cases of 11- and 15-year-old sisters with frequent syncope during exercise and emotional stress since the age of 10 and 12, respectively. There were no abnormalities on 12-lead electrocardiogram (ECG) at rest. They were first diagnosed with orthostatic dysregulation and epilepsy. Because of recurrent exercise-induced syncope, cardiac examinations were performed. On treadmill exercise stress test, bidirectional ventricular tachycardia was induced in the 11-year-old girl, which degenerated into ventricular fibrillation; frequent polymorphic premature ventricular contractions were induced in her elder sister. They were diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT) and started on oral beta-blockers and exercise restriction., Conclusions: It is important to suspect CPVT in pediatric exercise-induced syncope, and to recognize that CPVT does not show ECG abnormalities at rest., (© 2018 Japan Pediatric Society.)

Background: Low birthweight is associated with increased risk for cardiovascular disease (CVD) in later life, but whether premature birth is also a risk factor for CVD has not been fully determined. The aim of this study was to investigate the relationship between gestational age and risk factors for CVD at school age., Methods: Using medical check-up data of school children, the relationship between gestational age and height, weight, body mass index, blood pressure, and lipid profiles at ages 9 and 12 years were investigated in children born preterm and admitted to neonatal intensive care unit at birth (n = 182; 115 boys and 67 girls). These data were also compared between preterm small for gestational age (SGA) children and preterm appropriate for gestational age (AGA) children., Results: Gestational age was positively associated with height, and inversely associated with systolic blood pressure at school age. Preterm SGA children were significantly shorter and lighter at 9 and 12 years of age compared with preterm AGA children, but there were no significant differences in any CVD risk factors between the groups., Conclusions: In preterm infants, a shorter duration of gestation is associated with higher systolic blood pressure at school age., (© 2015 Japan Pediatric Society.)

A left atrium thrombus, potentially a life-threatening complication, is an extremely rare in early infancy. Most cases are caused by mal-placement of central venous catheters or related to congenital heart diseases with left atrial blood congestion. Here we present an extremely low birth weight infant who developed a left atrial thrombus during the course of late onset circulatory dysfunction. The thrombus was successfully treated by recombinant tissue plasminogen activator. A hemodynamically unstable condition like late onset circulatory dysfunction should be taken into consideration as a potential risk condition of this rare disease., (© 2012 The Authors. Pediatrics International © 2012 Japan Pediatric Society.)