[General anesthesia for a girl with Joubert syndrome].

Joubert syndrome is a rare autosomal recessive disorder, which is characterized by absence or underdevelopment of the cerebellar vermis and severe developmental delay. The other common features include ataxia, an abnormal breathing pattern, abnormal eye movements and hypotonia. We report the anesthetic management in a 13-year-old girl with Joubert syndrome, scheduled for cauterization of nasal mucosa under general anesthesia. She had episodes of tachypnea and apnea. Oral midazolam 10 mg and famotidine 20 mg were administered 30 min before surgery. Anesthesia was induced and maintained with sevoflurane and nitrous oxide in oxygen. Vecuronium 2 mg was used to facilitate tracheal intubation. Mechanical ventilation was performed with a low ventilation setting of respiratory rate 5 beats x min(-1) and peak inspiratory pressure 9 cm H2O to maintain normal end-tidal CO2. Flurbiprofen axetil 30 mg was administered intravenously for analgesia, because opioids are not recommended. After reversal of muscle relaxation by atropin 0.5 mg and neostigmine 1.5 mg, her trachea was extubated. She did not develop postoperative apnea. In this patient with Joubert syndrome, midazolam, sevoflurane, nitrous oxide and flurbiprofen axetil were used without any complications.

[Case report of dentatorubral pallidoluysian atrophy in a patient on a ketogenic diet].

We report a 16-year-old woman with dentatorubral pallidoluysian atrophy (DRPLA) on a ketogenic diet. She was scheduled for dental treatment under general anesthesia. She was diagnosed as having DRPLA at the age of 10. Medication included clonazepam, chlordiazepoxide, ethosuximide, sodium valproate and piracetam. She had been placed on a ketogenic diet at the age of 15, and seizures decreased. Preoperative laboratory data were normal except for serum cholesterol level (228 mg x dl(-1)) and blood ketones (1.8 mmol x l(-1)) with the use of Medisense Xtra. General anesthesia was induced using thiamylal, vecuronium, sevoflurane and maintained with sevoflurane and nitrous oxide-oxygen. Fluid infusion employed Solita T1 (glucose content of 2.6%: total 150 ml). Operation and general anesthesia presented no problems. We continued to infuse Solita T1 (total 350ml) for about 4 hours postoperatively. Ketogenic diet and additional medicine were started after 5 hours postoperatively. We measured perioperative and postoperative BS and blood ketones with the use of Medisense Xtra. She recovered from anesthesia without any significant complication.

[Case of myotonic dystrophy eventually diagnosed by preoperative Allen's test].

A 59-year-old woman was scheduled for resection of a parotid tumor under general anesthesia. Preoperative interview was done 7 days before the operation. Laboratory data were normal except for a slightly elevated CPK level. Though ECG showed abnormal P and T waves, exercise ECG was normal. Respiratory function test revealed decreased %VC. She did not complain of motor weakness and atrophy of distal muscles. When the anesthesiologist did Allen's test, slow relaxation of hand grip, i.e. grip myotonia, was observed. Further history taking disclosed that she had a family history of myotonic dystrophy (MD) in her son. She was diagnosed as MD by a neurologist on the day of preoperative interview, although she lacked obvious symptoms and consciousness of MD. The operation was performed as scheduled and she was anesthetized with oxygen-nitorous oxide, propofol, fentanyl and vecuronium. Vecuronium was not antagonized because of the adverse effect of neostigmine reported in MD patients. The operation and anesthesia were conducted uneventfully. Her recovery from anesthesia was so smooth that she was discharged uneventfully. In this case, careful examination led to diagnosis of MD and prevented perioperative complications associated with MD. It is important to examine patients meticulously not to miss trivial symptoms in our daily visits.