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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.
摘要：
Crisponi综合征是一种罕见且严重的遗传性疾病，以肌肉收缩为特征，刺耳,呼吸暂停,喂养麻烦，原因不明的高烧伴随多器官衰竭.在这里，我们报告了一名17个月大的Crisponi综合征女性儿童的内镜胃造瘘术的围手术期护理。严格监测手术室的温度并保持在19°C。患者暴露于吸入和静脉麻醉剂。手术和围手术期都很顺利。Crisponi综合征的发热发作起因于CRLF1突变,这不同于恶性高热的生理途径。
