Objective Neonatal gastric perforations (NGPs) are rare and account for 7 to 12% of all gastrointestinal perforations in the neonatal period. The etiology and prognostic factors associated with NGP remain unclear. The aim of this study is to review the cases of NGP in our neonatal intensive care unit (NICU) in the past 14 years and describe the risk factors, clinical presentation, and outcomes associated with it. Study Design A retrospective chart review of neonates with gastric perforation admitted to the NICU between June 2006 and December 2020 was performed. Data regarding their antenatal and neonatal characteristics, laboratory and radiological results, intra-operative findings, hospital course, and outcomes were recorded. Results We identified 350 patients with gastrointestinal perforation at our center during the study period of which 14 (4%; nine males and five females) patients were diagnosed with NGP during surgery. A total of 71% neonates were born preterm (range: 24–39 weeks, median: 34 weeks). Two neonates (14%) were SGA. Only one neonate received cardiopulmonary resuscitation at birth. In all neonates, except two, perforation occurred within the first 10 days of life (median: 4 days, range: 1–22 days). In total, 79% infants received feeds prior to perforation. Ten neonates had a feeding tube, and one neonate had a gastrostomy tube placed prior to perforation. Abdominal distension and pneumoperitoneum were present in all neonates. Majority of the babies had metabolic acidosis (64%) and elevated C-reactive protein (79%). Most (86%) neonates received surgical intervention within 12 hours. Overall survival in our study was 93%. Conclusion NGP is a rare entity seen mostly in preterm infants within the first 10 days of life. Clinical presentation is similar to perforation anywhere along the gastrointestinal tract and definite diagnosis requires exploratory laparotomy. With prompt recognition and surgical intervention, the overall mortality related to neonatal gastric perforation is low. Key Points

The DST gene is located on chromosome 6p and encodes for a large protein. Alternative splicing of this protein produces the neuronal (a1-a3), muscular (b1-b3), and epithelial (e) isoforms. Hereditary sensory and autonomic neuropathy (HSAN) type VI is a rare autosomal recessive disorder due to mutations affecting the a2 isoform. We present a case of HSAN-VI in a male neonate born to consanguineous parents.Genome sequencing revealed a novel homozygous variant (DST_c.1118C > T; p.

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Kabuki syndrome is a rare multiple anomalies syndrome associated with mutations in KMT2D or KDM6A. It is characterized by infantile hypotonia, developmental delay and/or intellectual disability, long palpebral fissures with everted lateral third of the lower eyelids and typical facial features. Intracranial anomalies occur infrequently in patients with KS and holoprosencephaly has only been recently described. Additionally, though congenital heart diseases are common in patients with KS, to our knowledge truncus arteriosus has never been reported in a patient with KS. We present an unusual case of KS in an infant with holoprosencephaly and truncus arteriosus with partial anomalous pulmonary venous return. Duo whole exome sequencing in our patient identified a pathogenic nonsense variant in exon 10 of KMT2D (c.2782C > T; p. Gln928*) establishing the diagnosis. This report further expands the phenotypic spectrum of patients with Kabuki syndrome and emphasizes the utility of performing large scale sequencing in neonates with multiple congenital anomalies.

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Objective A significant variability exists for diagnosis and treatment of hypotension in extremely preterm infants. Benefits of the use of vasopressors remain unclear. We wanted to identify the risk factors associated with use of vasopressors in the first week of life and their impact on outcomes of extremely preterm infants. Study Design Retrospective review of all newborns ≤28 weeks of gestational age (GA) admitted in neonatal intensive care unit from October 1, 2012 to October 31, 2015 done. Data regarding antenatal and neonatal characteristics and outcomes were recorded. Study infants were divided into two cohorts and compared based on vasopressor use. Chi-square, t-test, and multiple logistic regression were performed as appropriate and significance set at p <0.05. Results Of 213 extremely preterm infants, 90 (42.3%) received vasopressors in first week of life. The mean arterial pressure (MAP) at admission in these infants was significantly lower than that of infants who did not require vasopressors (27 ± 8 vs. 30 ± 6 mmHg, p < 0.05). Vasopressors were initiated within 24 hours in 91% of babies. After controlling for other variables, use of vasopressors was significantly higher in infants with lower birthweight (odds ratio [OR]: 3.2, 95% confidence interval [CI]: 1.6–8.3), 5-minute Apgar's score ≤5 (OR: 1.8, 95% CI: 1.2–3.12), and admission hypothermia (OR: 2.7, 95% CI: 1.3–4.9). The use of vasopressors was significantly associated with severe intraventricular hemorrhage (IVH), even after controlling for other significant variables (OR: 5.9, 95% CI: 1.6–9.3). Conclusion Lower birthweight, low 5-minute Apgar's score, and admission hypothermia are characteristics associated with early use of vasopressors in extremely preterm infants. Infants treated with vasopressors are at a higher risk of developing severe IVH. Key Points