Escobar Syndrome: Difficulties in Anesthesia Management

Abstract

Introduction: Escobar syndrome (multiple pterygium coli) is a rare autosomal recessive disorder which characterized by various malformations. Regarding anaesthesia management, these patients should be considered due to difficult mask ventilation and intubation and risk of malignant hyperthermia by the anesthesiologist. Case: An 11-year-old girl, with Escobar syndrome, was scheduled for orthopaedic surgery due to femur fracture. In a preoperative physical examination, the patient had revealed multiple joint flexion contractures. Neck extension of the patient was significantly limited due to the flexion contractures, and the mallampati score was 3, but the mouth opening was sufficient. Preoperative echocardiography and electrocardiogram were normal, and there was no abnormality in the complete blood count, coagulation profile and biochemical analysis. The patient was taken to the operating theatre without premedication. Following placement of IV line and preoxygenation, anaesthesia was induced with propofol, rocuronium bromide and fentanyl. After repositioning the patient to the ‘sniffing' position and applying external tracheal pressure, the trachea was intubated by the conventional laryngoscope with the help of an intubation stylet.  Anesthesia was maintained with propofol and remifentanil infusion. The duration of anaesthesia was 210 min and no problems were encountered intraoperatively. Discussion: Patients with Escobar syndrome are frequent in childhood and are characterized by multiple joint flexion contractures, pterygia of the neck, antecubital and popliteal areas, cleft palate, micrognathia, syndactyly, camptodactyly, decreased mouth openness, vertebral anomalies, and increased risk of malignant hyperthermia. In the literature, it is emphasized that anaesthesia management of patients with Escobar syndrome has challenging due to difficult intubation, difficult ventilation and the risk of malignant hyperthermia. Conclusion: In patients with Escobar syndrome, detailed physical examinations, especially cardiac and respiratory system, should be performed before the anaesthesia and necessary precautions such as difficult airway equipment should be taken in the operating theatre.