General anesthesia for Crisponi syndrome: case report
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 s...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-05-01
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| Series: | Brazilian Journal of Anesthesiology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S010400142030052X |
| _version_ | 1811203163857879040 |
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| author | Chloé Allary Marco Caruselli Alexandre Fabre Frédérique Audic Fabrice Michel |
| author_facet | Chloé Allary Marco Caruselli Alexandre Fabre Frédérique Audic Fabrice Michel |
| author_sort | Chloé Allary |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T02:51:08Z |
| format | Article |
| id | doaj.art-b5e2bc33ebbc4841b6dd0b925c652738 |
| institution | Directory Open Access Journal |
| issn | 0104-0014 |
| language | English |
| last_indexed | 2024-04-12T02:51:08Z |
| publishDate | 2020-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Brazilian Journal of Anesthesiology |
| spelling | doaj.art-b5e2bc33ebbc4841b6dd0b925c6527382022-12-22T03:51:00ZengElsevierBrazilian Journal of Anesthesiology0104-00142020-05-01703299301General anesthesia for Crisponi syndrome: case reportChloé Allary0Marco Caruselli1Alexandre Fabre2Frédérique Audic3Fabrice Michel4Aix Marseille University, APHM, La Timone Teaching Hospital, Department of Pediatric Anesthesia and Intensive Care Unit, Marseille, France; Corresponding author.Aix Marseille University, APHM, La Timone Teaching Hospital, Department of Pediatric Anesthesia and Intensive Care Unit, Marseille, FranceAix Marseille University, APHM, La Timone Teaching Hospital, Multidisciplinary Pediatric Department, Marseille, FranceAix Marseille University, APHM, La Timone Teaching Hospital, Neuropediatric Department, Marseille, FranceAix Marseille University, APHM, La Timone Teaching Hospital, Department of Pediatric Anesthesia and Intensive Care Unit, Marseille, FranceCrisponi 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.http://www.sciencedirect.com/science/article/pii/S010400142030052XSíndrome de CrisponiAnestesia pediátricaMorte súbitaRegulação da temperatura corpóreaHipertermia maligna |
| spellingShingle | Chloé Allary Marco Caruselli Alexandre Fabre Frédérique Audic Fabrice Michel General anesthesia for Crisponi syndrome: case report Brazilian Journal of Anesthesiology Síndrome de Crisponi Anestesia pediátrica Morte súbita Regulação da temperatura corpórea Hipertermia maligna |
| title | General anesthesia for Crisponi syndrome: case report |
| title_full | General anesthesia for Crisponi syndrome: case report |
| title_fullStr | General anesthesia for Crisponi syndrome: case report |
| title_full_unstemmed | General anesthesia for Crisponi syndrome: case report |
| title_short | General anesthesia for Crisponi syndrome: case report |
| title_sort | general anesthesia for crisponi syndrome case report |
| topic | Síndrome de Crisponi Anestesia pediátrica Morte súbita Regulação da temperatura corpórea Hipertermia maligna |
| url | http://www.sciencedirect.com/science/article/pii/S010400142030052X |
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