Background:
Polymeraze I and transcript release factor (PTRF) mutations are a newly recognized disease, which cause congenital generalized lipodystrophy associated with myopathy.
Case presentation:
A 29-year-old man (height 126 cm; weight 22 kg) with a PTRF mutation was scheduled for mandibular dentigerous cystectomy. His primary symptoms were lipodystrophy, myopathy, long QT syndrome, refractory nephrosis, and abnormal lipid metabolism. Defibrillator pads were applied soon after the patient entered the operating room. Anesthesia was induced using continuous administration of dexmedetomidine (4 μg/kg/h) for 15 min; midazolam (7 mg) was added while monitoring the bispectral index and his vital signs. Remifentanil and rocuronium were administered before endotracheal intubation. The surgeon used local anesthesia, and dexmedetomidine and remifentanil were titrated throughout the surgery. The surgery was performed uneventfully, and the patient was extubated following the administration of sugammadex and flumazenil.
Conclusion:
Patients with PTRF mutations require careful anesthetic planning. We planned to administer lipid-free, non-inhalational agents for the induction and maintenance of anesthesia. The anesthetic method used for this minor surgery was safe and effective.