POLG-related mitochondrial disease is a rare mitochondrial disorder that is potentially associated with anaesthetic complications such as propofol-related infusion syndrome. A 19-year-old man with mitochondrial DNA deletions and POLG-related disorders presented for an elective robotic Heller-Dor myotomy for the treatment of oesophageal pseudo-achalasia associated with severe gastro-oesophageal reflux. The fasting period was minimised to reduce the risk of metabolic stress. The anaesthetic technique included a rapid sequence induction with propofol and rocuronium, a remifentanil and sevoflurane-based general anaesthesia with multimodal monitoring and peri-operative lactate-free intravenous fluids with added dextrose. The patient did not experience propofol-related infusion syndrome but did have delayed tracheal extubation due to residual neuromuscular blockade requiring a second dose of sugammadex. This report demonstrates the safety of single-use, low-dose propofol in this patient group. Patients with POLG-related mitochondrial disease may be at risk of prolonged neuromuscular blockade, and appropriate dosing of neuromuscular blocking agents with monitoring of neuromuscular blockade is strongly encouraged.
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| http://dx.doi.org/10.1002/anr3.12159 | DOI Listing |
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Article Synopsis
- - POLG deficiency is the most common cause of nuclear-encoded mitochondrial disorders, leading to a range of overlapping symptoms from infancy to adulthood, as seen in a study of 40 children with biallelic pathogenic variants.
- - The study identified three main clinical patterns (neurologic, hepatic, gastrointestinal), with 24 patients requiring urgent care mainly due to severe neurologic issues like seizures and epilepsy.
- - Most children with hepatic symptoms had the earliest onset and shortest survival rates, while those with gastrointestinal issues had milder symptoms and lived longer; overall, the prognosis was poor, with many fatalities occurring by age 10.
Caspase-11 drives macrophage hyperinflammation in models of Polg-related mitochondrial disease.
bioRxiv
May 2024
The Jackson Laboratory, Bar Harbor, Maine 04609, USA.
Mitochondrial diseases (MtD) represent a significant public health challenge due to their heterogenous clinical presentation, often severe and progressive symptoms, and the lack of effective therapies. Environmental exposures, such bacterial and viral infection, can further compromise mitochondrial function and exacerbate the progression of MtD. Infections in MtD patients more frequently progress to sepsis, pneumonia, and other detrimental inflammatory endpoints.
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