ABSTRACT
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 19ºC. 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 a gastrostomia endoscópica. A temperatura da sala de cirurgia foi cuidadosamente monitorizada e mantida a 19ºC. 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.
Subject(s)
Humans , Female , Infant , Trismus/congenital , Hand Deformities, Congenital , Gastrostomy , Facies , Death, Sudden , Hyperhidrosis , Anesthesia, GeneralABSTRACT
OBJECTIVE: Sedation in neonates undergoing invasive prodedures as central venous catheterization (CVC) remains contro versial. Sevoflurane is an inhaled anesthetic whose periods of action and elimination are very short. The objective of this study was to evaluate the use of sevoflurane for sedation for central venous catheterization (CVC) in non-intubated neonates and preterms. METHODS: Thirty three (33) consecutive patients (range: 1-31 days old, 26 to 40 weeks GA, weighing 580 to 3200 g) were included over a 4 months period. Sevoflurane was progressively increased, until loss of consciousness and motor response to stimulation. FiO(2), heart rate (HR), mean arterial pressure (MAP), duration of the procedure and the ease of the procedure were recorded. RESULTS: HR was very stable, but MAP dropped significantly. No patient required intubation. The ease of the procedure was scored as average 13 times and excellent 20 times. CONCLUSION: The use of sevoflurane in neonates for CVC is feasible and achieve the goals of procedural sedation. The pharmacokinetic of sevoflurane enabled rapid adjustment of the depth of sedation. Sevoflurane appears to be a new agent at the disposal of neonatologists. Its use does not come without risks, especially for smaller preterms, which the treating clinician must anticipate.