Umbilical Catheter Extravasation Mimicking Necrotizing Enterocolitis in a Preterm Neonate: A Diagnostic Challenge.

Managing acute abdomen in very low birth weight (VLBW) and premature infants presents a diagnostic challenge, often necessitating a thorough assessment to discern underlying causes. Umbilical venous catheters (UVCs), commonly used in neonatal intensive care, are essential but not without risks. A 29-week premature male infant, born to a 23-year-old mother, was referred to our clinic on the 16th day of life with a suspected diagnosis of necrotizing enterocolitis (NEC). The infant had spent the first day intubated and received non-invasive respiratory support for 15 days. A 5 French UVC was inserted at the 2nd hour of life, and by the 3rd day of life, the infant transitioned to minimal enteral feeding. Between the 12th and 16th days of life, the infant initially diagnosed with NEC due to symptoms such as decreased stool passage and abdominal distension. The patient had been on a continuous course of antibiotic treatment throughout the entirety of his life, commencing on the very first day due to suspected early neonatal sepsis, followed by nosocomial sepsis during the hospitalization, and persisting with antibiotic therapy for suspected NEC. The case took a unique turn upon further evaluation after being referred to our unit. Despite a preliminary NEC diagnosis, further evaluation revealed umbilical catheter complications, leading to total parenteral nutrition extravasation. Removal of the catheter, drainage, and antibiotic adjustment resulted in improved clinical outcomes. In neonatal care, cautious management is vital when dealing with infants exhibiting abdominal symptoms. A nuanced approach, including differential diagnosis and careful antibiotic use, is essential.

Evaluation of Pediatric Maxillofacial Injury: Who Is Critical?

OBJECTIVE: Isolated facial injuries are less common among pediatric trauma patients. The literature has focused on, especially, fractures in facial injuries. There is a limited number of studies evaluating all facial injuries in childhood. The study aims to evaluate the clinical characteristics of maxillofacial injuries and to identify patients who require further intervention. METHODS: The data from pediatric patients with maxillofacial injury (<18 years) between January 2011 and December 2015 were collected. Demographic characteristics, trauma mechanisms, concomitant injuries, treatments, hospitalization, and follow-up results were recorded. RESULTS: The median age of the patients (N = 2926) was 5.0 years (2.0-10.0 years), and 63.1% were boys. Falls and motor vehicle accidents were the leading mechanism of injury. The most common injury types were lacerations (49.3%) and fractures (15.5%). One hundred thirty (0.4%) patients had concomitant injuries. Surgical treatment was performed in only 3.4% of the patients, and the mortality rate was 0.6%. Patients with concomitant injuries had more hospitalization rates, surgical treatment, and organ dysfunction. All patients who underwent cardiopulmonary resuscitation and resulted in mortality were in the concomitant injury group. CONCLUSIONS: Isolated facial injuries are unlikely to be life-threatening, and basic interventions are sufficient in most of the maxillofacial injuries. The primary issue in maxillofacial injuries is to recognize and manage concomitant injuries that can lead to organ dysfunction and mortality.

A toddler with a novel LEPR mutation.

There are numerous causes, such as environmental factors, medications, endocrine disorders, and genetic factors, that can lead to obesity. However, severe early-onset obesity with abnormal feeding behavior, mental retardation, dysmorphic features, organ-specific developmental abnormalities, and endocrine disorders suggest a genetic etiology. Mutations in genes related to the leptin-melanocortin pathway play a key role in genetic obesity. This pathway controls hypothalamic regulation of food intake. A few cases have been reported to have mutations in leptin (LEP) or leptin receptor (LEPR) genes. The cases had severe early-onset obesity, hyperphagia, and additional features, such as altered immune function, hypogonadism, and hypothyroidism. We present a 3-year-old male patient with severe early-onset obesity whose genetic analysis revealed a homozygous, novel, and pathogenic variant (c.1603+2T>C) in LEPR.

Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation.

Background Familial apo C-II deficiency is a rare hereditary disorder frequently caused by lipoprotein lipase (LPL) and APOC2 gene mutations. To date, less than 30 patients with familial apo C-II deficiency with 24 different mutations have been identified in the literature. Here, we describe two familial chylomicronemia syndrome cases in infants with two novel mutations of the APOC2 gene. Case presentation Case 1, a 46-day-old female, was admitted to our hospital for evaluation due to the lipemic appearance of the blood sample. A clinical examination revealed hepatomegaly and lipemia retinalis. Triglyceride level of 6295 mg/dL was decreased with a strict low-fat diet, medium-chain triglycerides (MCT) oil-rich formula and omega-3 fatty acid supplementation. Due to low adherence to the diet, TG elevation was detected and fresh frozen plasma (10 mL/kg/day) was administered for 2 days. A novel homozygous p.Q25X (c.73C>T) mutation in the APOC2 gene was detected. Case 2, a 10-month-old female patient, referred to our center for the differential diagnosis of hyperlipidemia as her blood sample could not be assessed due to its lipemic appearance. Laboratory examinations showed a TG level of 4520 mg/dL which was reduced with a low-fat diet, MCT oil-rich formula and omega-3 fatty acid supplementation. Hepatosteatosis and splenomegaly were determined using abdominal sonography. A novel homozygous IVS2+6T>G (c.55+6T>G) mutation in the APOC2 gene was identified. Conclusions We describe two novel homozygous mutations (p.Q25X [c.73C>T] and IVS2+6T>G [c.55+6T>G]) in the APOC2 gene in infants with hyperchylomicronemia. To the best of our knowledge, Case 1 is the youngest patient with familial apo C-II deficiency in the literature to date.