Neonatal colonic perforation.

Neonatal colonic perforation is a rarely seen condition. Plain abdominal radiography of a 28-hour newborn consulted for vomiting and bloody stool revealed the presence of subdiaphragmatic free air, which necessitated surgical exploration. Transverse colonic perforation was detected during the exploration, and subsequently, a colostomy and appendectomy were performed. The postoperative follow-up period was uneventful. Necrotizing enterocolitis, Hirschsprung disease, and mechanical obstruction are some of the causes of colonic perforation during the neonatal period. Herein, we have shared a case of colonic perforation in an asphyctic newborn delivered after prolonged labor.

Rhinovirus as a rare cause of acute onset dilated cardiomyopathy due to myocarditis in a newborn: case report and review of the literature.

BACKGROUND: Cardiomyopathies account for 1% of cardiac diseases that mainly originate from myocarditis in the form of dilated cardiomyopathy in the neonatal period. Viruses are the main cause of myocarditis resulting in dilated cardiomyopathy. Rhinovirus is the leading cause of viral respiratory infections though it is rarely severe. CASE: We report a 17 day old newborn with acute onset dilated cardiomyopathy due to myocarditis that developed after a viral respiratory infection caused by Rhinovirus who was admitted to the emergency ward with shock due to heart failure and recovered without any complications. This is the first case reporting the causal role of rhinovirus and myocarditis in the neonatal period. CONCLUSIONS: A comprehensive approach is needed for the diagnosis of myocarditis in the case of unknown etiology and an extensive respiratory panel may be taken into consideration if there is a history or clinical symptoms of respiratory infection.

A Multicentered Study on Epidemiologic and Clinical Characteristics of 37 Neonates With Community-acquired COVID-19.

BACKGROUND: Coronavirus disease 2019 (COVID-19) primarily affects adults and spares children, whereas very little is known about neonates. We tried to define the clinical characteristics, risk factors, laboratory, and imagining results of neonates with community-acquired COVID-19. METHODS: This prospective multicentered cohort study included 24 neonatal intensive care units around Turkey, wherein outpatient neonates with COVID-19 were registered in an online national database. Full-term and premature neonates diagnosed with COVID-19 were included in the study, whether hospitalized or followed up as ambulatory patients. Neonates without severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) via reverse transcriptase-polymerase chain reaction testing or whose mothers had been diagnosed with COVID-19 during pregnancy were excluded. RESULTS: Thirty-seven symptomatic neonates were included. The most frequent findings were fever, hypoxemia, and cough (49%, 41%, 27%, respectively). Oxygen administration (41%) and noninvasive ventilation (16%) were frequently required; however, mechanical ventilation (3%) was rarely needed. Median hospitalization was 11 days (1-35 days). One patient with Down syndrome and congenital cardiovascular disorders died in the study period. C-reactive protein (CRP) and prothrombin time (PT) levels were found to be higher in patients who needed supplemental oxygen (0.9 [0.1-8.6] vs. 5.8 [0.3-69.2] p = 0.002, 11.9 [10.1-17.2] vs. 15.2 [11.7-18.0] p = 0.01, respectively) or who were severe/critical (1.0 [0.01-8.6] vs. 4.5 [0.1-69.2] p = 0.01, 11.7 [10.1-13.9] vs. 15.0 [11.7-18.0] p = 0.001, respectively). CONCLUSIONS: Symptomatic neonates with COVID-19 had high rates of respiratory support requirements. High CRP levels or a greater PT should alert the physician to more severe disease.

Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation

Neonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first six months of life. Here we report three patients with neonatal diabetes; two with isolated pancreas agenesis due to mutations in the pancreas-specific transcription factor 1A (PTF1A) enhancer and one with developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome, due to a KCNJ11 mutation. The two cases with mutations in the distal enhancer of PTF1A had a homozygous g.23508363A>G and a homozygous g.23508437A>G mutation respectively. Previous functional analyses showed that these mutations can decrease expression of PTF1A which is involved in pancreas development. Both patients were born small for gestational age to consanguineous parents. Both were treated with insulin and pancreatic enzymes. One of these patients' fathers was also homozygous for the PTF1A mutation, whilst his partner and the parents of the other patient were heterozygous carriers. In the case with DEND sydrome, a previosly reported heterozygous KCNJ11 mutation, p.Cys166Tyr (c.497G>A), was identified. This patient was born to nonconsanguineous parents with normal birth weight. The majority of neonatal diabetes patients with KCNJ11 mutations will respond to sulphonylurea treatment. Therefore Glibenclamide, an oral antidiabetic of the sulphonylurea group, was started. This treatment regimen relatively improved blood glucose levels and neurological symptoms in the short term. Because we could not follow the patient in the long term, we are not able to draw conclusions about the efficacy of the treatment. Although neonatal diabetes mellitus can be diagnosed clinically, genetic analysis is important since it is a guide for the treatment and for prognosis.

Spontaneous intracranial bleeding in a neonate with congenital afibrinogenemia.

Congenital afibrinogenemia, a very rare autosomal recessive coagulation disorder, is characterized by undetectable and extremely low antigen levels of fibrinogen in plasma. We report a male newborn with intracranial bleeding and diagnosed as congenital afibrinogenemia in the neonatal period. All members of the family were asymptomatic. Even though his sister and father showed extremely low fibrinogen levels, they did not have any symptoms. The most important finding of this case was a spontaneous intracranial hemorrhage at a very early stage of life. Another interesting point was the rapid resorption of this hemorrhage.

Indomethacin-induced colon perforation in Bartter's syndrome.

Bartter's syndrome (BS) is an inherited renal tubular disorder characterized by hypokalemia, hypochloremic metabolic alkalosis, and hyperaldosteronism with normal blood pressure. A 22-year-old woman was referred at 23 week of gestation. Polyhydramnios was detected and the chloride level of the amniotic fluid was high. The mother was treated with indomethacin from 26 to 31 week of gestation. The newborn was delivered at 34 week of gestation. At 8th day of life, indomethacin was also started for the baby. After three days, a colonic perforation developed. Indomethacin-induced colon perforation is uncommon in antenatal Bartter's syndrome. This patient indicates that administration of indomethacin in both antenatal and/or early postnatal period may be associated with colonic perforation.

Goldenhar's syndrome associated with multiple congenital abnormalities.

Goldenhar's syndrome is characterized by a combination of dermal epibulbar cysts, auricular appendices, malformation of ears, and vertebral anomalies. The average incidence ratio of Goldenhar's syndrome is estimated to be 1/5600, and the frequency of cardiovascular malformations of this syndrome is 5-58 per cent. Although the etiology of this disease is not fully understood, autosomal recessive or dominant inheritance is possible. The disease occurs as sporadic cases. Male:female ratio for the Goldenhar's syndrome is 2:1. A 72-day-old Goldenhar's syndrome case is reported who presented with multiple congenital anomalies.