Ann M. Kulungowski

Vascular Anomalies in Pediatrics

A standardized classification system allows improvements in diagnostic accuracy. Multidisciplinary vascular anomaly centers combine medical, surgical, radiologic, and pathologic expertise. This collaborative approach tailors treatment and management of vascular anomalies for affected individuals.

Factors associated with peritoneal dialysis catheter complications in children.

BACKGROUND/PURPOSE Peritoneal dialysis (PD) is a common method of renal replacement therapy for children. However, placement of PD catheters has risk, and some are never used. METHODS We conducted a retrospective chart review of children with a PD catheter placed between 2000 and 2014. Logistic regression analyses were used to identify covariates associated with complications. RESULTS We identified 175 children with PD catheters. 110 complications developed in 80 children (45.7%). Complications including unexpected return to the operating room and peritonitis increased as the length of time a catheter was in place increased. Children who weighed <12.4 kg had 3.2 times greater odds of developing a leak (95% CI 1.21-8.63, p=0.02). Twelve children never used their PD catheters, 9 with acute kidney injury (AKI) who recovered from their disease more quickly than expected. No covariate was associated with nonuse. CONCLUSIONS Complications with PD catheters are common and increase the longer catheters are in place. Lower weight children are at greater risk of PD catheter leak. Decreased initial volumes of dialysate in smaller children may mitigate this risk. Nonuse may be reduced if dialysis is permitted the day of placement for children with AKI.

Symptomatic Congenital Hemangioma and Congenital Hemangiomatosis Associated With a Somatic Activating Mutation in GNA11.

IMPORTANCE Congenital hemangiomas are uncommon benign vascular tumors that present fully formed at birth. They are rarely associated with transient hematologic abnormalities, which are typically less severe than the Kasabach-Merritt phenomenon associated with kaposiform hemangioendotheliomas. Congenital hemangiomas are typically solitary and have not been reported to occur in a multifocal, generalized pattern. OBJECTIVE To describe a male infant born with an unusual, large vascular mass complicated by anemia, thrombocytopenia, and disseminated intravascular coagulopathy, as well as innumerable small vascular papules in a generalized cutaneous distribution. DESIGN, SETTING, AND PARTICIPANT This case report is a descriptive observation of the results of clinical, pathologic, and genetic studies performed in a single male infant observed for 2 years (May 2013 to June 2015) for vascular anomalies at a tertiary care referral center. MAIN OUTCOMES AND MEASURES Histopathologic, immunohistochemical, and genetic study results of tumor specimens and saliva. RESULTS Careful pathologic study of 3 tumor specimens revealed similar lobular proliferations of bland endothelial cells. Lesional vessels did not express GLUT1 or the lymphatic marker D2-40, whereas WT1 was expressed. A somatic c.A626C, p.Q209P mutation in the GNA11 gene was identified in tumoral tissue. CONCLUSIONS AND RELEVANCE These findings support a unifying diagnosis of congenital hemangioma for these vascular tumors. To date, this is the first-reported case of a hemangiomatosis presentation of congenital hemangioma. In addition to highlighting this novel phenotype, this case indicates the rare association of congenital hemangioma with hematologic abnormalities and verifies somatic activating mutations as the underlying cause of congenital hemangioma.

Shock index, pediatric age-adjusted (SIPA) is more accurate than age-adjusted hypotension for trauma team activation

Background. We demonstrated previously that shock index, pediatric age‐adjusted identifies severely injured children accurately after blunt trauma. We hypothesized that an increased shock index, pediatric age‐adjusted would identify more accurately injured children requiring the highest trauma team activation than age‐adjusted hypotension. Methods. We reviewed all children age 4–16 admitted after blunt trauma with an injury severity score ≥15 from January 2007–June 2013. Criteria used as indicators of need for activation of the trauma team included blood transfusion, emergency operation, or endotracheal intubation within 24 hours of admission. Shock index, pediatric age‐adjusted represents maximum normal shock index based on age. Cutoffs included shock index >1.22 (ages 4–6), >1.0 (7–12), and >0.9 (13–16). Age‐adjusted cutoffs for hypotension were as follows: systolic blood pressure <90 (ages 4–6), systolic blood pressure <100 (7–16). Results. A total of 559 children were included; 21% underwent operation, 37% endotracheal intubation, and 14% transfusion. Hypotension alone predicted poorly the need for operation (13%), endotracheal intubation (17%), or transfusion (22%). Operation (30%), endotracheal intubation (40%), and blood transfusion (53%) were more likely in children with an increased shock index, pediatric age‐adjusted; 25 children required all three interventions, 3 (12%) were hypotensive at presentation, 15 (60%) had an increased shock index, pediatric age‐adjusted (P < .001). Conclusion. An increased shock index, pediatric age‐adjusted is superior to age‐adjusted hypotension to identify injured children likely to require emergency operation, endotracheal intubation, or early blood transfusion.

Rectal biopsies for Hirschsprung disease: Patient characteristics by diagnosis and attending specialty

PURPOSE Hirschsprung disease (HD) is diagnosed with rectal biopsy. At our institution two services perform these biopsies: pediatric surgery and gastroenterology. Our objective was to review our institutional experience with rectal biopsies to diagnose HD and compare patients and outcomes between the two services. METHODS We reviewed all children undergoing a rectal biopsy for the evaluation of HD at our institution over a 10-year period. Comparisons were made using multiple logistic regression models. RESULTS We identified 518 children who underwent rectal biopsy for evaluation of HD; 451/518 (87%) were adequate and 56/518 (11%) were positive for HD. A positive biopsy was more likely with delayed passage of meconium (p<0.001), obstructive symptoms (p<0.001), trisomy 21 (p<0.001), full-term gestation (p=0.03), and male gender (p=0.02). Pediatric surgeons biopsied younger patients with more classic symptoms for HD compared to gastroenterologists. Pediatric surgeons were more likely to take adequate (OR 6.0, 95% CI 2.9-12.4, p<0.001) and positive biopsies (OR 6.7 95% CI 2.1-21.2, p=0.001) compared to gastroenterologists. CONCLUSION Infants with classic symptoms can reliably be diagnosed with HD by a pediatric surgeon. The work up for HD in older children with constipation should be a collaborative effort between pediatric surgery and gastroenterology.

Hemolysis, elevated liver enzymes, and low platelets syndrome: when is surgical help needed?

BACKGROUND Life-threatening hemorrhage is a rare event in hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome. Epidemiologic data are lacking to predict patients at risk for hemorrhage requiring surgical consultation. We sought to identify early clinical predictors of hemorrhagic complications in patients at risk for HELLP syndrome. METHODS Patients at risk for HELLP syndrome from 1997 to 2007 were identified retrospectively. Variables evaluated in at-risk women were maternal age, gestational history, hepatic transaminase levels, and platelet count. Multiple logistic regression analysis was used to identify independent predictors of poor maternal outcomes, which were defined as hemorrhage requiring transfusion of blood products, need for surgical intervention, hepatic rupture, and death. RESULTS A total of 109 at-risk women were identified. Adverse outcomes included transfusions (18%), hemorrhage interventions (8%), damage control laparotomy (2.8%), and hepatic rupture (2.8%). Maternal and perinatal mortality were .9% and 3.7%, respectively. Median transfusion requirements for women with hepatic rupture were 56 U of packed red blood cells, 26 U of fresh-frozen plasma, 18 U of platelets, and 6 U of cryoprecipitate. Multiple logistic regression analysis showed previous gestations (P = .002), platelet count (P = .01), and aspartate aminotransferase level increase (P = .04) were independent predictors of life-threatening hemorrhage. Previous gestations increased the risk of adverse outcome 3-fold. CONCLUSIONS Identifiable risk factors predictive of major hemorrhage are thrombocytopenia (<100,000 cells/microL), increase of aspartate aminotransferase level greater than 70 IU/L, and previous gestations.

Chapter 87 – Intestinal Obstruction of Neonates and Infants

1. What signs and symptoms suggest intestinal obstruction in the neonate? Signs and symptoms vary according to the location of the obstruction. Proximal intestinal obstruction leads to early bilious vomiting, typically with minimal distention. Neonates with distal intestinal obstruction often present after the first day of life with distention and bilious emesis. Bilious emesis in infants and children deserves immediate investigation. An upper gastrointestinal (UGI) contrast study will identify a surgical cause in about one-third of cases. In particular, malrotation with midgut volvulus should always be ruled out as this condition requires prompt surgical intervention.