Brazilian Journal of Anesthesiology
https://bjan-sba.org/article/doi/10.1016/j.bjane.2020.04.010
Brazilian Journal of Anesthesiology
Case Report

General anesthesia for crisponi syndrome: case report

Anestesia geral para síndrome de crisponi: relato de caso

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

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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.

Keywords

Crisponi syndrome;  Pediatric anesthesia;  Sudden death;  Body temperature regulation;  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.

Palavras-chave

Síndrome de Crisponi;  Anestesia pediátrica;  Morte súbita;  Regulação da temperatura corpórea;  Hipertermia maligna.

References

1. Crisponi G. Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome? Am J Med Genet. 1996;62:365-71. -p

2. Rafiq M, Almasry S, Abdulrahman A, et al. perioperative care of a child with crisponi syndrome. Middle East J Anaesthesiol. 2016;23:563-7.

3. Bonthuis D, Morava E, Booij LHDJ, et al. Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications. Paediatr Anesth. 2009;19:212- 7.

4. Crisponi L, Crisponi G, Meloni A, et al. Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. Am J Hum Genet. 2007;80:971-81.

5. Dagoneau N, Bellais S, Blanchet P, et al. Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. Am J Hum Genet. 2007;80:966-70.

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Rev. Bras. Anestesiol.

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