Background Risk factors which predispose children with congenital diaphragmatic hernia (CDH) to recurrence remain poorly defined. We report a large series of recurrent CDH and ask whether prenatal patient factors or postnatal treatment variables better predict recurrence. Methods 238 neonates with unilateral CDH were repaired from 1990–2006. Data were assessed by χ2 and Mann-Whitney-U tests. Multivariate regression identified independent predictors of recurrence. Statistical significance was set at P<0.05. Results We identified 24 recurrences (10%). Median time from repair to recurrence diagnosis was 4.9 months. Patients with recurrence were older (P=0.02) and more often required abdominal wall patches at initial repair (P=0.01) compared to non-recurrence patients. Postoperative length-of-stay (LOS)(P<0.01) and morbidity (P=0.01) were greater in patients with recurrence. Use of diaphragm patch at initial repair was greater in patients with recurrence, but only approached statistical significance (P=0.05). Only two variables independently predicted recurrence by multivariate regression: abdominal (not diaphragm) wall patch during initial repair (O.R.=3.50;P=0.04) and postoperative LOS (O.R.=1.012;P=0.01). Conclusion Neonates at risk for CDH recurrence are better identified by postnatal treatment variables than by prenatal patient factors. While age at repair and diaphragm patch use are greater in recurrence patients, the only factors to independently predict recurrence were postoperative LOS and abdominal wall patch use. These data can help optimize follow-up regimens.

Femoral cannulation in pediatric patients requiring extracorporeal membrane oxygenation (ECMO) is commonly associated with distal limb ischemia. Authors have previously reported successful lower limb perfusion using various open techniques to cannulate a distal lower extremity artery at the time of initial ECMO cannulation. These procedures include open femoral artery antegrade cannulation and distal posterior tibial artery retrograde cannulation in older children and adults. Such approaches require ample vessel diameters that can accommodate an arteriotomy and catheter insertion, and therefore are of limited utility in smaller children. We hypothesized that following femoral artery cannulation for ECMO, a percutaneous technique of distal limb perfusion might offer unique advantages when treating lower extremity ischemia in small pediatric patients. We report a technique for percutaneous antegrade cannulation in a 4 year old patient shortly following her primary cannulation for venoarterial ECMO via the femoral artery.

A 5-year-old boy presented with worsening headaches for 3 months. On examination, he was found to have a hairless fatty tissue nevus of the scalp (nevus psiloliparus), subcutaneous soft tissue masses on the right side of his face, neck, mandible and right buttock and epibulbar dermoid of the right eye (choristoma) (). Magnetic resonance imaging revealed a large suprasellar mass, which was debulked and found to be a pilocytic astrocytoma. Testing was not performed for the BRAF/KIAA1549 fusion or BRAFV600E mutation. Seven years later, he was started on adjuvant chemotherapy for gradual tumor progression. Over the ensuing 3 years, he had further disease progression despite treatment with 3 frontline chemotherapy regimens: vinblastine, carboplatin/vincristine, and irinotecan/bevacizumab. Targeted sequencing of tissue from the right gluteal mass, revealed a mosaic activating FGFR1 c.1966A>G (p.Lys656Glu) mutation, absent in normal left gluteal tissue, confirming the diagnosis of encephalocraniocutaneous lipomatosis (ECCL), belonging to the family of RASopathies (including neurofibromatosis type I, Noonan syndrome, Costello syndrome), with constitutive activation of the mitogen-activated protein kinase (MAPK) pathway, and an increased risk of developing neoplasms. He was started on trametinib, a MEK inhibitor, off-label, targeting the MAPK pathway downstream from FGFR1, with stable tumor size at last follow-up, after 6 months on therapy.