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Revista Española de Anestesiología y Reanimación (English Edition) An adult case of acute encephalopathy associated with general anaesthesia and th...
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Case report
Available online 25 September 2026

An adult case of acute encephalopathy associated with general anaesthesia and the m.11232T>C MT-ND4 variant

Encefalopatía aguda asociada a anestesia general en un paciente adulto portador de la variante m.11232T>C en el gen MT-ND4
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I. Arranz Chamorroa,
Corresponding author
irene.arranzchamorro@gmail.com

Corresponding author.
, P. Blanco-Schweizerb, E. Ruiz Pesinic, M. Busto Bustoa, T. Ticona Espinozab, J. Rodríguez Jiménezd
a Servicio de Anestesiología y Reanimación, Hospital Río Hortega de Valladolid, Valladolid, Spain
b Intensive Care Unit, Hospital Río Hortega de Valladolid, Valladolid, Spain
c Biochemistry and Molecular and Cellular Biology Department, Universidad de Zaragoza, Zaragoza, Spain
d Diagnostic Radiology Department, Hospital Río Hortega de Valladolid, Valladolid, Spain
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Abstract

We report the case of a 20-year-old woman who developed acute encephalopathy after uneventful general anaesthesia with sevoflurane, propofol, and opioids. The patient presented neurological impairment followed by metabolic acidosis and hyperlactatemia and neuroimaging findings involving the basal ganglia, brainstem, and cerebellum. Genetic testing confirmed the mitochondrial variant m.11232T>C in the MT-ND4 gene, previously described only in paediatric patients. This case could be one of the first cases described in the literature of acute encephalopathy associated with this mutation in an adult patient, possibly precipitated by exposure to volatile anesthetics. The patient’s favorable clinical and radiological evolution after intensive neuroprotective management and suboccipital decompressive craniectomy highlights the importance of early diagnosis and individualized treatment. Mitochondrial dysfunction should be considered in atypical neurological presentations following general anesthesia, especially when accompanied by lactic acidosis and unusual neuroimaging findings.

Keywords:
mtND4 mutation
m.11232T>C variant
Mitochondrial disease
Mitochondrial DNA mutation
Toxic–metabolic encephalopathy
CHANTER syndrome
Sevoflurane
Perioperative metabolic disorders and lactic acidosis
Resumen

Se presenta el caso de una mujer de 20 años que desarrolló encefalopatía aguda tras anestesia general con sevoflurano, propofol y opioides, sin incidencias intraoperatorias. La paciente presentó deterioro neurológico severo seguido de acidosis metabólica e hiperlactacidemia y hallazgos radiológicos compatibles con afectación de ganglios basales, tronco del encéfalo y cerebelo. El estudio genético confirmó la presencia de la variante mitocondrial m.11232T>C en el gen MT-ND4, previamente descrita únicamente en población pediátrica. Este caso podría ser uno de los primeros casos descritos en la literatura de encefalopatía aguda asociada a esta mutación en un paciente adulto, posiblemente precipitada por exposición a anestésicos volátiles. La evolución clínica y radiológica favourable tras neuroprotección intensiva y craniectomía descompresiva suboccipital respalda la importancia del diagnóstico precoz y del manejo individualizado. Es importante considerar la disfunción mitocondrial ante cuadros neurológicos atípicos tras anestesia general, especialmente en pacientes con hiperlactacidemia y antecedentes familiares compatibles.

Palabras clave:
Mutación MT-ND4
Variante m.11232T>C
Enfermedad mitochondrial
Mutación del ADN mitochondrial
Encefalopatía tóxico-metabólica
Síndrome de CHANTER
Sevoflurano
Trastornos metabólicos perioperatorios y acidosis láctica

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