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OBJECTIVE: Malignant hyperthermia (MH) is characterized by a state of hypermetabolism after exposure to halogenated inhalational anesthetics or succinylcholine. The aims of this study were to carry out an updated review on the subject and report an illustrative case of MH in urgent maxillofacial surgery. MATERIAL AND METHODS: A search of the PubMed/MEDLINE database using the keyword "malignant hyperthermia" was performed including articles published over the last 11 years in English, Spanish or Portuguese. Exclusion criteria were similar presentations but not associated with MH and cases not related to the use of anesthetic drugs as a trigger of the condition. CASE REPORT: A 45-year-old man (75 kg, ASA status IE) with a negative family history for neuromuscular diseases, victim of a car accident with a facial fracture, underwent surgery under balanced general anesthesia and developed signs of MH 4 h after anesthesia induction. In our patient, the causative agent was sevoflurane and the diagnosis of MH was confirmed, subsequently, by muscle biopsy. RESULTS/DISCUSSION: Overall, 44 cases of MH were found. According to the recent literature, MH shows a male predilection (3:1) and the mean age of patients is 32.2 ± 22.2 years. The most frequently cited causative agents were sevoflurane (30.5%), isoflurane (22.2%), and sevoflurane + succinylcholine (13.8%). The most common clinical indicators included hypercarbia (88.8%), hyperthermia (86.1%), and tachycardia (63.8%). Dantrolene was administered in 24 cases. The outcome was favorable in 31 cases (86.1%). The in vitro muscle contracture test (IVCT) was performed in only 15 patients and all of them tested positive. In our patient, the causative agent was sevoflurane and the diagnosis of MH was confirmed by muscle biopsy. CONCLUSION: The mortality from MH is still high and an early clinical diagnosis and specific treatment with dantrolene are necessary for a favorable outcome. A complete understanding will allow better management of patients with MH. At present, the best management is to identify susceptible patients and to avoid triggering agents, combined with vigilant monitoring.

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Malignant hyperthermia is an hypermetabolic syndrome in which the intracellular calcium receptors are altered. Patients who present compatible symptoms with this symdrome are genetically predisposed. Many of the cases have been described in the surgical area, due to the use of anesthesic drugs and neuromuscular blockers. However, there are some cases with an unknown trigger. The prevalence of the syndrome is very difficult to estimate. The diagnosis and early treatment are pronostic factors predicting the evolution of the syndrome.

La hipertermia maligna es conocida como un síndrome de estimulación masiva del metabolismo, debido a la alteración en la liberación de calcio intracelular. Muchos pacientes que presentan clínica compatible con este síndrome están genéticamente predispuestos. La mayoría de los casos se describen en el ámbito quirúrgico, con el empleo de fármacos anestésicos y determinados relajantes neuromusculares, aunque también existen casos en los que no se halla desencadenante. De prevalencia difícil de estimar, la sospecha diagnóstica y el tratamiento precoz marcan el pronóstico evolutivo de estos pacientes.

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Resumen Introducción: El síndrome de hipertermia maligna es un trastorno farmacogenético del músculo esquelético de carácter hereditario, que se caracteriza por un estado hipermetabólico relacionado con la exposición a anestésicos inhalatorios o relajantes musculares despolarizantes. Se trata de una afección infrecuente en individuos genéticamente predispuestos, con una incidencia muy baja en pediatría (1 de cada 10,000-15,000 procedimientos anestésicos). Caso clínico: Se presenta un caso de hipertermia maligna relacionado con la exposición a sevoflurano durante una cirugía de adenoidectomía en un paciente de sexo femenino de 6 años de edad. La paciente presentó taquicardia, hipercapnia e hipertermia, que precisaron la administración de dos dosis sucesivas de dantroleno sódico. La evolución posterior fue buena. Conclusiones: El síndrome de hipertermia maligna es un cuadro poco frecuente en la edad pediátrica. Se debe sospechar de forma precoz, ya que es fundamental su detección temprana para iniciar el tratamiento.

Abstract Background: Malignant hyperthermia syndrome is a hereditary pharmacogenetic disorder of skeletal muscle characterized by hypermetabolic state related to the exposure of volatile anesthetic gases or depolarizing muscle relaxants. It is an infrequent entity that occurs in genetically predisposed individuals, with a very low incidence in pediatrics (1 in 10,000-15,000 anesthetic procedures). Case report: We report a case of malignant hyperthermia related to exposure to sevoflurane during adenoidectomy surgery in a 6-year-old female. The patient presented with tachycardia, hypercapnia, and hyperthermia, requiring two successive doses of dantrolene sodium administration, with an adequate response to the treatment. Conclusions: Malignant hyperthermia syndrome is a rare condition in pediatric patients that should be detected in early stages since it is essential to initiate the treatment as soon as possible.

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Background: Malignant hyperthermia syndrome is a hereditary pharmacogenetic disorder of skeletal muscle characterized by hypermetabolic state related to the exposure of volatile anesthetic gases or depolarizing muscle relaxants. It is an infrequent entity that occurs in genetically predisposed individuals, with a very low incidence in pediatrics (1 in 10,000-15,000 anesthetic procedures). Case report: We report a case of malignant hyperthermia related to exposure to sevoflurane during adenoidectomy surgery in a 6-year-old female. The patient presented with tachycardia, hypercapnia, and hyperthermia, requiring two successive doses of dantrolene sodium administration, with an adequate response to the treatment. Conclusions: Malignant hyperthermia syndrome is a rare condition in pediatric patients that should be detected in early stages since it is essential to initiate the treatment as soon as possible.

Background: Introducción">El síndrome de hipertermia maligna es un trastorno farmacogenético del músculo esquelético de carácter hereditario, que se caracteriza por un estado hipermetabólico relacionado con la exposición a anestésicos inhalatorios o relajantes musculares despolarizantes. Se trata de una afección infrecuente en individuos genéticamente predispuestos, con una incidencia muy baja en pediatría (1 de cada 10,000-15,000 procedimientos anestésicos). Caso clínico: Se presenta un caso de hipertermia maligna relacionado con la exposición a sevoflurano durante una cirugía de adenoidectomía en un paciente de sexo femenino de 6 años de edad. La paciente presentó taquicardia, hipercapnia e hipertermia, que precisaron la administración de dos dosis sucesivas de dantroleno sódico. La evolución posterior fue buena. Conclusiones: El síndrome de hipertermia maligna es un cuadro poco frecuente en la edad pediátrica. Se debe sospechar de forma precoz, ya que es fundamental su detección temprana para iniciar el tratamiento.

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OBJECTIVE: To report on a case of malignant hyperthermia in a child after a magnetic resonance imaging of the skull was performed using sevoflurane anesthesia. CASE DESCRIPTION: A 3-year-old boy admitted to the pediatric intensive care unit after presenting clinical and laboratory findings consistent with unspecified viral meningoencephalitis. While the patient was sedated, a magnetic resonance imaging of the skul was performed using propofol followed by the administration of sevoflurane through a laryngeal mask in order to continue anesthesia. Approximately three hours after the start of the procedure, the patient presented persistent tachycardia, tachypnea, generalized muscular stiffness and hyperthermia. With a diagnostic hypothesis of malignant hyperthermia, dantrolene was then administered, which immediately induced muscle stiffness, tachycardia, tachypnea and reduced body temperature. COMMENTS: Malignant hyperthermia is a rare pharmacogenetic syndrome characterized by a severe hypermetabolic reaction after the administration of halogenated inhalational anesthetics or depolarizing muscle relaxants such as succinylcholine, or both. Although it is a potentially fatal disease, the rapid administration of continued doses dantrolene has drastically reduced the morbidity and mortality of the disease.

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ABSTRACT Objective: To report on a case of malignant hyperthermia in a child after a magnetic resonance imaging of the skull was performed using sevoflurane anesthesia. Case description: A 3-year-old boy admitted to the pediatric intensive care unit after presenting clinical and laboratory findings consistent with unspecified viral meningoencephalitis. While the patient was sedated, a magnetic resonance imaging of the skul was performed using propofol followed by the administration of sevoflurane through a laryngeal mask in order to continue anesthesia. Approximately three hours after the start of the procedure, the patient presented persistent tachycardia, tachypnea, generalized muscular stiffness and hyperthermia. With a diagnostic hypothesis of malignant hyperthermia, dantrolene was then administered, which immediately induced muscle stiffness, tachycardia, tachypnea and reduced body temperature. Comments: Malignant hyperthermia is a rare pharmacogenetic syndrome characterized by a severe hypermetabolic reaction after the administration of halogenated inhalational anesthetics or depolarizing muscle relaxants such as succinylcholine, or both. Although it is a potentially fatal disease, the rapid administration of continued doses dantrolene has drastically reduced the morbidity and mortality of the disease.

RESUMO Objetivo: Relatar um caso de hipertermia maligna em criança após exame de ressonância magnética de crânio realizada sob efeito anestésico de sevoflurano. Descrição do caso: Menino de três anos de idade, admitido na Unidade de Terapia Intensiva Pediátrica (UTIP) após apresentar quadros clínico e laboratorial compatíveis com meningoencefalite viral não especificada. Foi realizado um exame de ressonância magnética de crânio com sedação utilizando, na indução anestésica, o propofol seguido pela administração de sevoflurano por meio de máscara laríngea para manutenção anestésica. Aproximadamente três horas após o início do procedimento, o paciente apresentou taquicardia, taquipneia, rigidez muscular generalizada e hipertermia persistentes. Com hipótese diagnóstica de hipertermia maligna, foi então administrado dantrolene, que fez ceder de forma imediata a rigidez muscular, a taquicardia, a taquipneia e reduziu a temperatura corporal. Comentários: A hipertermia maligna é uma síndrome farmacogenética rara, que se caracteriza por reação hipermetabólica grave após administração de anestésicos inalatórios halogenados e/ou relaxantes musculares despolarizantes, como a succinilcolina. Apesar de ser uma doença potencialmente fatal, a rápida administração de dantrolene, junto às doses de manutenção, tem reduzido drasticamente a morbimortalidade da doença.

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PURPOSE: HyperCKemia is a persistent rise in serum creatine kinase (CK) levels of at least 1.5 times the normal value, as evidenced by a minimum of two measurements at 30-day intervals. One of the neuromuscular diseases associated with hyperCKemia is malignant hyperthermia (MH). This study investigated the susceptibility to MH in patients with hyperCKemia via in vitro contracture testing (IVCT) and a search of mutations in the RYR1 gene. METHODS: Patients in an MH centre were followed from 1997-2012, and their epidemiologic, clinical, and laboratory data were analyzed, including IVCT, muscle histochemical analysis, and next-generation sequencing molecular analysis. RESULTS: There were nine patients (eight male) in our study with a mean (SD) age of 33 (12) yr. Four patients were Caucasian and five were African Brazilian. Most complained about myalgia or cramps, but all had a normal neurological examination. They persistently presented with hyperCKemia from three months to ten years, with a mean (SD) CK value of 788 (507) IU·L-1 ranging from 210-1,667 IU·L-1. These values corresponded to a 1.5- to nine-fold increase in the normal value (mean increase, 3.7-fold). Six patients were MH susceptible (MHS) after a positive IVCT. Histopathological muscular analysis disclosed unspecified changes in four of the MHS patients. Mitochondrial proliferation was observed in the other two MHS patients and in three MH negative patients. No pathogenic mutations were identified in the RYR1 gene in the five patients evaluated. CONCLUSION: When investigating patients with idiopathic hyperCKemia, susceptibility to MH should be taken into account, and guidance should be offered to prevent anesthetic complications in the family.

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Malignant hyperthermia (MH) is a rare neuromuscular hereditary disorder, triggered in susceptible individuals by exposure to inhalational agents or succinylcholine and manifested as a hypermetabolic state. We report the case of a 22 years old male patient anesthetized with Desflurane in whom MH was suspected because of unexplained increased levels of End-Tidal carbon dioxide. Dantrolene was administered with good response. Respiratory acidosis and hyperkalemia were also detected but could be easily controlled. The postoperative period was uneventful with the exception of a superficial venous thrombosis at the dantrolene’s injection site. The patient was discharged eight days after the episode without sequela. Successful management of a malignant hyperthemia episode must include: early suspicion, asking for help and early treatment with dantrolene.

La Hipertermia Maligna es un trastorno neuromuscular hereditario infrecuente, manifestado por un estado hipermetabólico desencadenado en individuos susceptibles por la exposición a anestésicos halogenados o Succinilcolina. Se reporta el caso de un hombre de 22 años anestesiado con Desflurano, en quien el diagnóstico de Hipertermia Maligna se sospechó por la presencia de elevación inexplicada del CO2 espirado, que respondió a la suspensión del Desflurano y administración de Dantroleno. Se observó además hiperkalemia y acidosis respiratoria, que fueron fácilmente compensadas. La evolución postoperatoria fue satisfactoria, a excepción de una trombosis venosa superficial en el sitio de inyección del Dantroleno. El paciente fue dado de alta al 8avo día postoperatorio, sin secuelas. Las claves del manejo exitoso de un episodio de hipertermia maligna están en: Sospecha precoz, solicitar ayuda e inició rápido del tratamiento con Dantroleno.

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Resumen: La Hipertermia Maligna (HM), es un síndrome clínico que ocurre en pacientes susceptibles tras la exposición a un agente anestésico desencadenante. La mortalidad desciende con tratamiento específico, por lo que es fundamental su diagnóstico y tratamiento precoz. Se presenta el caso clínico de una niña de 3 años y 10 meses, en estudio por hemiparesia derecha de 3 meses de evolución. Se plantea probable enfermedad desmielinizante. Se le realizaron dos resonancias magnéticas (RNM) previas con anestesia sin incidentes. Por mala evolución de su enfermedad, se realiza nueva RNM con anestesia. A las 5 horas presenta episodio de distonías, acidosis, CPK elevada. Se interpreta como HM, se inicia tratamiento para la misma con mejoría del cuadro clínico. Presentamos este caso con el objetivo de exponer un enfoque diagnóstico y terapéutico de esta patología.

Summary: Malignant Hyperthermia (MH)is a clinical syndrome that occurs in susceptible patients after exposure to a triggering anesthetic agent. Associated mortality decreases with specific treatment, which is why its diagnosis and early treatment is essential. We present the case of a 3-year and 10-month-old girl, who presented a right hemiparesis. Possible demyelinating disease was suspected. Two previous magnetic resonance imaging (MRI) were performed under general anesthesia without complications. Due to poor evolution of his disease, new MRI is performed with anesthesia. After the procedure, she presented an episode of dystonias, acidosis, elevated CPK. It was interpreted as MH, and specific treatment was initiated instated. We present this case with the objective of exposing a diagnostic and therapeutic approach to this pathology.

Resumo: A hipertermia maligna (HM), è uma sindrome clinica que ocorre em pacientes sucetíveis devido a exposição a um agente anestésico desencadeante. A mortalidade diminui com tratamento específico, para o qual é fundamental diagnostico e tratamento precoce. Apresenta-se um caso clínico de uma criança de 3 anos e 10 meses de idade, em estudo por hemiparesia direita de 3 meses de evolução. Questiona-se provável doença desmielinizante. Foram realizadas duas ressonância magnéticas (RNM) previas, sob anestesia, sem incidentes. Devido à má evolução de sua doença, realizuo-se nova RNM sob anestesia. Cinco horas após apresentou episódios de rigidez muscular, acidose e CPK elevada. Interpretou-se como HM, iniciando-se tratamento específico, obtém-se melhoria do quadro clínico. Apresentamos este caso clínico com o objetivo de expor um enfoque diagnóstico e terapêutico desta patologia.

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La Hipertermia Maligna (HM), es un síndrome clínico que ocurre en pacientes susceptibles tras la exposición a un agente anestésico desencadenante. La mortalidad desciende con tratamiento específico, por lo que es fundamental su diagnóstico y tratamiento precoz. Se presenta el caso clínico de una niña de 3 años y 10 meses, en estudio por hemiparesia derecha de 3 meses de evolución. Se plantea probable enfermedad desmielinizante. Se le realizaron dos resonancias magnéticas (RNM) previas con anestesia sin incidentes. Por mala evolución de su enfermedad, se realiza nueva RNM con anestesia. A las 5 horas presenta episodio de distonías, acidosis, CPK elevada. Se interpreta como HM, se inicia tratamiento para la misma con mejoría del cuadro clínico. Presentamos este caso con el objetivo de exponer un enfoque diagnóstico y terapéutico de esta patología.

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