[General anesthesia for Crisponi syndrome: case report]

Abstract

Crisponi syndrome is a rare and severe heritable disorder characterised by muscle contractions, trismus, apnea, feeding troubles, and unexplained high fever spikes with multiple organ failure. Here we report perioperative care for endoscopic gastrostomy of a 17 month-old female child with Crisponi syndrome. Temperature in the surgery room was strictly monitored and maintained at 19 °C. The patient was exposed to both inhaled and intravenous anesthetic agents. Surgical and perioperative periods were uneventful. Episodes of fever in Crisponi syndrome arise from CRLF1 mutation, which differs from the physiological pathway underlying malignant hyperthermia.

Keywords: Anestesia pediátrica; Body temperature regulation; Crisponi syndrome; Hipertermia maligna; Malignant hyperthermia; Morte súbita; Pediatric anesthesia; Regulação da temperatura corpórea; Sudden death; Síndrome de Crisponi.