General anesthesia for Crisponi syndrome: case report
| العنوان: | General anesthesia for Crisponi syndrome: case report |
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| المؤلفون: | Alexandre Fabre, Chloé Allary, Marco Caruselli, Fabrice Michel, Frédérique Audic |
| المصدر: | Brazilian Journal of Anesthesiology, Vol 70, Iss 3, Pp 299-301 (2020) Revista Brasileira de Anestesiologia, Vol 70, Iss 3, Pp 299-301 (2020) |
| بيانات النشر: | Elsevier, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Hipertermia maligna, Crisponi syndrome, Anesthesia, General, Trismus, lcsh:RD78.3-87.3, 03 medical and health sciences, Death, Sudden, Malignant hyperthermia, 0302 clinical medicine, Body temperature regulation, 030202 anesthesiology, Anesthesiology, medicine, Humans, Hyperhidrosis, Pediatric anesthesia, RD78.3-87.3, Gastrostomy, Regulação da temperatura corpórea, business.industry, Sudden death, Apnea, Facies, Infant, Anestesia pediátrica, General Medicine, Perioperative, medicine.disease, Heritable disorder, Morte súbita, Síndrome de Crisponi, lcsh:Anesthesiology, Anesthesia, Anesthetic, Perioperative care, Female, medicine.symptom, business, Hand Deformities, Congenital, medicine.drug |
| الوصف: | 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. Resumo: A Síndrome de Crisponi é uma condição clínica hereditária grave e rara caracterizada por contrações musculares, trismo, apneia, distúrbios na alimentação, picos de febre alta e inexplicável, e falência de múltiplos órgãos. Descrevemos o cuidado perioperatório de paciente pediátrica com 17 meses de idade, portadora da Síndrome de Crisponi, submetida à gastrostomia endoscópica. A temperatura da sala de cirurgia foi cuidadosamente monitorizada e mantida a 19 °C. A paciente foi submetida a agentes anestésicos inalatórios e venosos. O cuidado cirúrgico e perioperatório desenvolveram-se sem incidentes. As crises de febre na Síndrome de Crisponi originam-se de mutação no gene CRLF1, o que as diferenciam do mecanismo fisiopatológico da hipertermia maligna. |
| اللغة: | English |
| تدمد: | 0104-0014 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd14da1a5f04891c6dd9f6fba6a9ea3eTest http://www.sciencedirect.com/science/article/pii/S010400142030052XTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....dd14da1a5f04891c6dd9f6fba6a9ea3e |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 01040014 |
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