A Case of Sotos Syndrome in a Preterm Infant with Severe Bronchopulmonary Dysplasia and Congenital Heart Disease.

Sotos syndrome is an autosomal dominant genetic disorder caused by mutations in the NSD1 gene. In this study, we report a case of Sotos syndrome in a preterm infant. The main clinical manifestations were severe bronchopulmonary dysplasia, congenital heart disease, difficulty feeding, and characteristic facial appearance. The gene mutation was located at 177251854 on chromosome 5, and identified as a shear mutation, c.4765+1 G > A, which is a new mutation. The patient recovered well after symptomatic treatment. To the best of our knowledge, this is the first case of a preterm infant in whom a novel c.4765+1 G > A mutation in the NSD1 gene was identified. When premature infants present with abnormally severe bronchopulmonary dysplasia, feeding difficulties, and other congenital anomalies, Sotos syndrome should be considered.

Reference Values for Point-of-Care Echocardiographic Measurements of Preterm Infants in China.

Background: Few studies have examined the reference value of the left ventricular structure and function in preterm infants. This study was designed to establish a point-of-care echocardiographic reference range of left ventricular structure and function based on different gestational age, weight, and body surface area (BSA) for preterm infants within 7 days after birth. Methods: We retrospectively studied 489 patients with traditional echocardiographic data of left ventricular (LV) M-mode: LV end diastolic dimensions (LVED), LV end systolic dimension (LVES), end-diastolic interventricular septal thickness (IVSd), end diastolic LV posterior wall thickness (LVPWd), left atrial (LA) and aortic root (AO) diameters, and index of LA/AO, LV ejection fraction (LVEF), LV fractional shortening (LVFS), and pulsed wave Doppler: aortic valve flow rate (AV), peak mitral valve flow rate E(MV-E), peak mitral valve flow rate A(MV-A), and MV-E/A. The LV dimensions and the maximum blood flow velocities of the aortic valves and mitral valves according to gestational age, birth weight, and body surface area (BSA) are presented in percentiles tables. Percentile curves of aforesaid four cardiac measurements (LVED, LA diameter (LAD), MV-E, MV-E/A) using the R language Generalized Additive Models for Location, Scale and Shape (GAMLSS) method were developed according to different gestational ages and weights. Results: Measurements of all cardiac dimensions and Doppler maximum velocities of AV, MV-E, and MV-E/A showed a correlation with gestational age, weight, and BSA. LVED, LAD, MV-E, and MV-E/A showed a trend of increasing values with gestational age and weight on the percentile curves. Conclusion: The percentile tables and graphs of these point-of-care echocardiographic data can provide reliable reference data for Chinese neonates. Normative values are recommended as a source of reference data for the identification of potentially abnormal echocardiography.

[A clinical analysis of pericardial effusion caused by central venous catheterization in preterm infants].

OBJECTIVE: To study the clinical features of pericardial effusion caused by central venous catheterization in preterm infants. METHODS: A retrospective analysis was performed on 11 preterm infants with pericardial effusion caused by central venous catheterization. Their catheterization features, manifestations, treatment, and prognosis were analyzed. RESULTS: A total of 11 preterm infants (11/2 599, 0.42%) developed pericardial effusion, with a mean gestational age of (30.1±2.6) weeks and a mean birth weight of (1 240±234) g. Pericardial effusion mostly occurred within 4 days after central venous catheterization (10 cases, 91%). The main manifestations included poor response (6/11, 55%), cyanosis (5/11, 45%), increased respiratory rate (6/11, 55%), increased heart rate (6/11, 55%), aggravated dyspnea (5/11, 45%), and muffled heart sound (5/11, 45%). At the time of disease progression, 7 preterm infants (64%) had a deep position of the end of the catheter, 3 preterm infants (27%) had a correct position, and 1 preterm infant (9%) had a shallow position. Five preterm infants (45%) experienced cardiac tamponade, among whom 4 underwent pericardiocentesis. Seven preterm infants were given conservative medical treatment. Among the 11 children, 2 (18%) died and 9 (82%) improved. CONCLUSIONS: Pericardial effusion caused by central venous catheterization mostly occurs in the early stage of catheterization and has critical clinical manifestations. Pericardiocentesis is required for cardiac tamponade, and early diagnosis and intervention can effectively improve prognosis.

[A clinical analysis of neonatal chylous effusions].

OBJECTIVE: To study the clinical features, etiology, treatment, and prognosis of neonatal chylous effusions. METHODS: A retrospective analysis was performed for the clinical data of 21 neonates with chylous effusions. RESULTS: Among these 21 neonates, 13 had chylothorax, 2 had chyloperitoneum, 2 had chylopericardium, and 4 had chylous polyserositis. Five neonates with congenital chylous effusions were enrolled as the congenital group, which mostly occurred in the fetal period, and symptoms were observed shortly after birth. Sixteen neonates with acquired chylous effusions were enrolled as the acquired group, and the symptoms mainly appeared within 1 week after central venous catheterization (in 14 neonates) or appeared together with sepsis (in 2 neonates). Compared with the acquired group, the congenital group had significantly higher specific gravity, white blood cell count, monocyte percentage, and albumin level in effusions (P<0.05) and significantly lower levels of glucose and triglyceride (P<0.05). Central venous catheterization-induced chylous effusions were mainly associated with inappropriate position, displacement damage, and hypertonicity. Conservative treatment was the main treatment method for the neonates with chylous effusions (in 20 children), with a response rate of 85%. Compared with the acquired group, the congenital group had a significant higher proportion of neonates receiving special formula feeding, a significantly lower proportion of neonates with extubation, and a significantly longer time to the absorption of effusions (P<0.05). CONCLUSIONS: The time to the occurrence of symptoms and clinical manifestations vary with disease etiology and location in neonates with chylous effusions. Neonates with acquired chylous effusions may experience hypertonic solution effusion due to vascular injury. Conservative treatment has a marked clinical effect on neonatal chylous effusions. It appears to be more difficult to treat neonates with congenital chylous effusions than those with acquired chylous effusion.