Perioperative Anesthesia Management in Spinal Surgery in a Patient with Autosomal Recessive NDUFV1 Gene Mutation

Mitochondrial diseases are rare disorders associated with high mortality rates, particularly in childhood.Energy production in organs with high metabolic demands is primarily dependent on mitochondrial oxidative phosphorylation.Impaired oxidative phosphorylation and limited metabolic reserves lead to an increased risk of complications in this patient group during the perioperative period.Clinical findings usually appear during childhood and may include muscle weakness, lethargy, seizures, hypotonia, dysphagia, and visual impairment.Involvement of the central nervous system, cardiovascular system, skeletal muscles, and other organ systems results in increased sensitivity to anesthetic agents.Therefore, considering the depressant effects of general anesthetics, anesthesia management in individuals with mitochondrial disease is more complex and challenging.Mitochondrial enzyme deficiencies can develop due to numerous genetic and environmental factors.Ensuring normothermia, normoglycemia, and adequate respiratory support during the perioperative period are fundamental principles.However, optimal anesthesia strategies in adult patients with mitochondrial disease have not yet been clearly defined.This case presentation describes the perioperative anesthesia management of an adult patient diagnosed with Mitochondrial Complex I Deficiency, Nuclear Type 4 (c.707T>C[p.Phe236Ser], homozygous) due to an autosomal recessive NDUFV1 gene mutation.It was determined that the patient's parents are related, there is an absence of documented cases of mitochondrial disease within the family, and the patient had previously received a diagnosis of Alexander disease.Due to the progression of clinical symptoms, spinal stabilization surgery was planned.The aim of this case report is to discuss the perioperative anesthetic management and clinical challenges encountered in a rare subtype of mitochondrial enzyme deficiency for which anesthetic management has not previously been reported, in the context of the existing literature.