Geral麻醉治疗CRISPONI综合征1例

IF 1 Q3 Medicine

Revista brasileira de anestesiologia Pub Date : 2020-05-01 DOI:10.1016/j.bjan.2020.01.007

Chloé Allary , Marco Caruselli , Alexandre Fabre , Frédérique Audic , Fabrice Michel

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引用次数: 1

摘要

Criponi综合征是一种罕见且严重的遗传性疾病，其特征是肌肉收缩、三体、呼吸暂停、进食困难和不明原因的高烧并伴有多器官衰竭。在这里，我们报告了一名患有Criponi综合征的17个月大的女性儿童的内镜胃造口术的围手术期护理。手术室的温度受到严格监控，并保持在19°C。患者同时暴露于吸入和静脉注射麻醉剂。手术和围手术期都很顺利。Criponi综合征的发热发作源于CRLF1突变，这与恶性热疗的生理途径不同。

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Anestesia geral para Síndrome de Crisponi: relato de caso

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.

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来源期刊

Revista brasileira de anestesiologia ANESTHESIOLOGY-

CiteScore

1.50

自引率

0.00%

发文量

审稿时长

21 weeks

期刊介绍： The Brazilian Journal of Anesthesiology is the official journal of the Brazilian Anesthesiology Society. It publishes articles classified into the following categories: -Scientific articles (clinical or experimental trials)- Clinical information (case reports)- Reviews- Letters to the Editor- Editorials. The journal focuses primarily on clinical trials, with scope on clinical practice, aiming at providing applied tools to the anesthesiologist and critical care physician. The Brazilian Journal of Anesthesiology accepts articles exclusively forwarded to it. Articles already published in other journals are not accepted. All articles proposed for publication are previously submitted to the analysis of two or more members of the Editorial Board or other specialized consultants.