Lesch-Nyhan syndrome is a rare, x-linked, recessive disorder of
purine metabolism resulting in
hyperuricemia, spasticity, choreoathetosis,
dystonia, self-injurious behavior, and aggression, without significant
cognitive impairment.
Anesthetic management of inpatients who demonstrate classic manifestations of
Lesch-Nyhan syndrome and require surgical interventions have been described. There are no guidelines in the literature addressing the
anesthetic management of the outpatient with
Lesch-Nyhan syndrome. Specifically, sudden, unexplained death, abnormalities in respiration,
apnea, severe
bradycardia, and an increased incidence of
vomiting and chronic pulmonary aspiration may preclude this patient population from receiving
anesthesia for outpatient procedures.
General anesthesia with spontaneous ventilation was performed for diagnostic, radiographic imaging in 11 outpatients with
Lesch-Nyhan syndrome using intravenous
propofol. A bolus dose of 1.5 to 2.0 mg/kg
propofol was followed by maintenance doses of 60 to 160 mcg/kg/min. Results during and following sedation indicated end-tidal
carbon dioxide ranges between 34 mmHg and 59 mmHg. Respiratory rates were never below 10 breaths/min and no partial/complete
airway obstruction or labored breathing was clinically evident. Hemodynamics were within 30% of presedation values. No patient demonstrated
nausea,
vomiting, or pulmonary aspiration. Baseline neuropsychologic status was achieved following sedation, and patients were discharged from the hospital 35 to 90 minutes after sedation was completed. Potential risks and benefits of using
propofol in this patient population are discussed.