No abstract

Blue Rubber Bleb Nevus Syndrome is a congenital rarity that manifests as vascular malformations throughout the body, including the gastrointestinal tract. With fewer than 300 cases reported, the etiology and clinical course is poorly understood; however, the literature suggests TEK mutations on chromosome 9 result in unregulated angiogenesis. We present the case of a young female treated for anemia of unknown etiology who presented in hemorrhagic shock due to gastrointestinal hemorrhage necessitating small bowel resection, with cutaneous, intestinal, hepatic, and lingual vascular malformations associated with a single somatic pathologic TEK mutation. Although uncommon, this case suggests that Blue Rubber Bleb Nevus Syndrome should be considered in the differential of a patient with persistent anemia and cutaneous lesions, carrying the potential for multiple gastrointestinal vascular malformations progressing to hemorrhage necessitating operative management. Additionally, a severe phenotype can occur without a double-hit TEK mutation.

Introduction Sepsis prevention pathways, which often include blood and urine cultures, are common in children’s hospitals. Fever and tachycardia, signs often seen in patients with appendicitis, frequently trigger these pathways. We hypothesized that cultures were frequently obtained in children with appendicitis. Materials and Methods We conducted a single-center retrospective cohort study evaluating children with image-confirmed appendicitis from 4/1/2019 to 10/1/2020, coinciding with the initiation of sepsis prevention pathways. Factors associated with culture acquisition, as well as culture results, treatment, and outcomes were evaluated. Results Six hundred and fifty eight children presented with acute appendicitis during the 1.5-year period, with a median age of 10.67 years (interquartile range (IQR) 8.17-14.08). Cultures were obtained in 22.9%, including blood culture (BCx) in 8.1% and urine culture (UCx) in 17.9%. Culture acquisition decreased by 17.6% after sepsis protocol initiation. Blood culture acquisition correlated with fever ( P = .003) and younger age ( P = .03), whereas the attainment of BCx and UCx was associated with female sex ( P = .04, P < .0001), complicated appendicitis ( P = .0001, P = .03), and unknown diagnosis ( P < .0001, P < .0001). There were five positive UCx (4.24%); however, all remained asymptomatic despite a short antibiotic duration dictated by institutional appendicitis protocol. The one positive BCx (1.89%) was suspected contamination and not treated. Discussion The findings of this cohort suggest a low incidence of positive culture as well as lack of impact on clinical management in image-proven appendicitis and the initiation of a sepsis bundle without automatic culture acquisition may result in decreased culture attainment.