Challenging Diagnosis of a Congenital Tracheal Malformation: Considerations From an Intensive Care Perspective.

Congenital tracheal stenosis is a rare airway malformation. A high index of suspicion is fundamental. The authors report a case of congenital tracheal stenosis in a 13-month-old male infant, with a challenging diagnosis from the intensive care perspective. At birth, the patient presented an anorectal malformation with a recto-urethral fistula so a colostomy with mucous fistula was performed in the neonatal period. At the age of seven months, he was admitted due to a respiratory infection, treated with steroids and bronchodilators, and discharged after three days without any complications. He underwent complete repair of tetralogy of Fallot when he was 11 months old, which was performed without any reported perioperative complications. However, at the age of 13 months, due to another respiratory infection, he presented more severe symptoms and required admission to the pediatric intensive care unit (PICU) for invasive mechanical ventilation. He was intubated on the first attempt. While monitoring the difference between peak inspiratory and plateau pressures, we observed a sustained elevated difference between pressures suggestive of increased airway resistance, thus raising the possibility of an anatomical obstruction. Laryngotracheoscopy confirmed distal tracheal stenosis (grade II) with four complete tracheal rings. In our case, the absences of perioperative challenges or complications in previous respiratory infections were not suggestive of a tracheal malformation. Furthermore, no difficulties were encountered during intubation due to the distal location of the tracheal stenosis. A careful appreciation of respiratory mechanics on the ventilator at rest and during tracheal aspirations was essential to suspect an anatomical defect.

ALCAPA syndrome: A rare etiology of cardiac arrest in a teenager.

ALCAPA syndrome is a rare congenital heart disease and a cause of myocardial ischemia in pediatric population. The authors present the case of a 10-year-old girl admitted to the emergency room after experiencing cardiac arrest at school. In the echocardiogram, the inability to identify the origin of the left coronary artery raised the hypothesis of abnormal origin of the left coronary artery from the pulmonary artery (ALCAPA). A CT-scan and a cardiac catheterization were performed confirming the diagnosis. Infants with the syndrome may have myocardial infarction and congestive heart failure. She successfully underwent cardiac surgery. Most undiagnosed patients die within the first year of life, and it is necessary to develop an extensive network of collaterals to ensure survival. ALCAPA syndrome rarely manifests in late childhood, teenagers, and adults and may be an important cause of sudden cardiac arrest.

[Neonatal tumors]. / Tumores no período neonatal.

INTRODUCTION: Tumors affecting the fetus and newborn differ from those found in older children and adults, leading to new diagnostic and therapeutic challenges. AIM: To evaluate the main clinical aspects related to neonatal tumors. MATERIAL AND METHODS: Retrospective analysis of clinical data from newborn patients admitted to the Service of Neonatology of São João Hospital between 1996 and 2006, with the diagnosis of tumor or neoplasia. RESULTS: Total = 32 cases, 16M/16F, birth weight: 3146 g (965-4590), gestational age 38 weeks (28-41), seven (22%) preterm, C-section rate 75% (n = 24), two with EXIT procedure. DIAGNOSIS: Teratoma (n = 8); lymphangioma (n = 7), neuroblastoma (n = 6), haemangioma (n = 5), other solid tumors (n = 6); acute lymphoblastic leukemia (n = 1). Prenatal diagnosis 50% (n = 16). Teratoma: immature (n = 3); mature (n = 5), sacrococcygeal location (n = 5); cervical (n = 3); total macroscopic resection (n = 8). Cystic lymphangioma: cervical location (n = 5); cervicothoracic location (n = 1); thoracoabdominal location (n = 1); total macroscopic resection (n = 7). NEUROBLASTOMA: abdominal location (n = 5); cervical location (n = 1); deletion 1p (n = 0); oncogene n-myc amplification (n = 0); stage I (n = 1); IIB (n = 1); III (n = 3); IV (n = 1). Chemotherapy (n = 5), according to the <> (n = 2), surgical resection (n = 4). Four patients remain without disease and two present with residual disease. OTHER SOLID TUMORS: Large haemangiomas (n = 5); scaly papiloma (n = 1); juvenile xanthogranuloma (n = 1); lipoblastoma (n = 1); nephroma (n = 1); nonclassified neoplasm, possible nervous sheath sarcoma (n = 1). All patients showed a good clinical evolution. Acute lymphoblast leukemia (n = 1), deceased. COMMENT: Pre-natal diagnosis allows the planning of a careful multidisciplinary approach. In these rare entities it is crucial to pursue international collaboration, ideally workgroup committees, aiming for better clinical knowledge and an improved prognosis.