Arnauld Delarue

Management of Pediatric Laryngotracheal Stenosis

In the past 6 years, 40 children underwent surgery for laryngotracheal stenosis; 32 by the external approach and 8 by endoscopic CO2 laser. Twenty-seven children (67%) were less than 5 years old at the time of treatment and 80% of the stenoses (n = 32) corresponded to an etiology that is secondary to endotracheal intubation and/or tracheotomy. By grading the stenoses according to the amount of narrowing of the lumen, the authors emphasize the interest of conservative treatment (endoscopic for grade I [less than 70%, n = 8], and treatment by external surgical methods for grade II [70% to 90%, n = 13], grade III [90% to 99%, n = 14], and grade IV [total obstruction, n = 5]). At this time, the most commonly used technique is laryngotracheoplasty with costal cartilage interposition. In this series, 88% of the patients were successfully decannulated. As for the treatment of stenosis in infants, the authors describe their recent experience of laryngotracheofissure in 7 patients as an alternative to either tracheotomy in cases of difficult extubation or laryngotracheoplasty when the child is underweight.

Sonographic diagnosis of a common pancreaticobiliary channel in children.

BackgroundA common pancreaticobiliary channel is a very rare condition, but its diagnosis is of paramount importance since it can lead to complications that can be prevented.ObjectiveTo illustrate the sonographic diagnosis of a common pancreaticobiliary channel in children referred for abdominal pain or jaundice.Materials and methodsFour children were diagnosed by ultrasonography and the diagnosis was subsequently confirmed by MRI.ResultsSonography demonstrated a pancreaticobiliary junction located in the pancreatic head above the sphincter of Oddi. This rare congenital anomaly was confirmed in all patients by MRI.ConclusionA common pancreaticobiliary channel can be diagnosed by sonography. Nevertheless, our experience is limited, and although sonography can provide an alert and can assist management, it cannot yet replace MRI.

Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A

Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with hitherto unknown syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing and bone fragility, a clinical entity we have termed O2HE (Osteo-Oto-Hepato-enteric) syndrome. Whole exome sequencing of all affected individuals and their parents identified biallelic mutations in Unc-45 Myosin Chaperone A (UNC45A), as a likely driver for this disorder. Subsequent in vitro and in vivo functional studies of the candidate gene indicated a loss of function paradigm, wherein mutations attenuated or abolished protein activity with concomitant defects in gut development and function.

Patología esofágica del niño

Resumen Como ocurre a menudo en pediatria, la patologia esofagica del nino abarca por una parte las malformaciones congenitas y por otra las enfermedades adquiridas. Entre las malformaciones se distinguen las atresias aisladas o combinadas con fistula traqueoesofagica, las fistulas traqueoesofagicas aisladas, las estenosis y los diverticulos congenitos, asi como las duplicaciones esofagicas. Con respecto a las enfermedades adquiridas del esofago, se mencionan las perforaciones, las lesiones por agentes corrosivos y las estenosis adquiridas. Se realizara una resena embriologica del eje traqueoesofagico y a continuacion se expondran las diferentes enfermedades congenitas. Por ultimo, se desarrollara un apartado referido a las enfermedades adquiridas.