Duodenal atresia with apple peel associated with congenital diaphragmatic hernia: an exceptional case and a literature review. / Atresia duodenal con apple peel asociada a hernia diafragmática congénita: un caso excepcional y revisión de la literatura.

INTRODUCTION: Duodenal atresia associated with apple peel is extremely rare. Duodenal atresia occurs as a result of absence of recanalization at an early stage, whereas intestinal atresia is seemingly due to vascular causes at later stages. The presence of abnormalities associated with diaphragmatic hernia is frequent, but association with duodenal atresia has been little explored. CASE REPORT: This is the case of a female neonate born at gestational week 31, with duodenal atresia and apple peel, associated with left diaphragmatic hernia and major heart disease. An abdominal muscle flap was performed for diaphragmatic defect closure purposes, and duodenojejunal anastomosis was carried out following resection of part of the non-viable apple peel. DISCUSSION: To our knowledge, this is the first case described with this rare association. The combination of duodenal atresia and apple peel had been previously described 11 times. However, the association of both with congenital diaphragmatic hernia had not been reported yet.

INTRODUCCION: La atresia duodenal asociada con appel peel es extremadamente infrecuente. La primera se produce por un defecto en la recanalización en etapas tempranas, mientras que la atresia intestinal parece deberse a causas vasculares en etapas más tardías. La presencia de anomalías asociadas a la hernia diafragmática es común, pero la asociación con la atresia duodenal apenas está descrita. CASO CLINICO: Presentamos un recién nacido de 31 semanas de gestación y sexo femenino, con atresia duodenal y apple peel, asociada a hernia diafragmática izquierda y cardiopatía mayor. Se realizó un flap muscular abdominal para el cierre del defecto diafragmático y anastomosis duodenoyeyunal tras la resección de parte del apple peel inviable. COMENTARIOS: A nuestro entender, es el primer caso descrito con esta asociación singular. La combinación de atresia duodenal con apple peel se ha descrito previamente en 11 ocasiones; la asociación de ambas con hernia diafragmática congénita no había sido descrita.

Multicenter prospective clinical study to evaluate children short-term neurodevelopmental outcome in congenital heart disease (children NEURO-HEART): study protocol.

BACKGROUND: Congenital heart disease (CHD) is the most prevalent congenital malformation affecting 1 in 100 newborns. While advances in early diagnosis and postnatal management have increased survival in CHD children, worrying long-term outcomes, particularly neurodevelopmental disability, have emerged as a key prognostic factor in the counseling of these pregnancies. METHODS: Eligible participants are women presenting at 20 to < 37 weeks of gestation carrying a fetus with CHD. Maternal/neonatal recordings are performed at regular intervals, from the fetal period to 24 months of age, and include: placental and fetal hemodynamics, fetal brain magnetic resonance imaging (MRI), functional echocardiography, cerebral oxymetry, electroencephalography and serum neurological and cardiac biomarkers. Neurodevelopmental assessment is planned at 12 months of age using the ages and stages questionnaire (ASQ) and at 24 months of age with the Bayley-III test. Target recruitment is at least 150 cases classified in three groups according to three main severe CHD groups: transposition of great arteries (TGA), Tetralogy of Fallot (TOF) and Left Ventricular Outflow Tract Obstruction (LVOTO). DISCUSSION: The results of NEURO-HEART study will provide the most comprehensive knowledge until date of children's neurologic prognosis in CHD and will have the potential for developing future clinical decisive tools and improving preventive strategies in CHD. TRIAL REGISTRATION: NCT02996630 , on 4th December 2016 (retrospectively registered).