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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.

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.

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A case representing neonatal jaundice that includes direct and indirect hyperbilirubinemia was diagnosed with classical galactosemia. Even though she was initially approached as a neonatal sepsis case, after the cessation of her milk consumption, jaundice resolved, and the diagnosis was made and supported by additional diagnostic tools. It has been shared to emphasize the importance of assessment and urgent management of the disease during the neonatal period.