Mucopolisacaridosis tipo I con desenlace fatal durante un evento anestésico. Informe de un caso anatomopatológico.

Introduction: Mucopolisaccharidosis I (MPS I) is caused by deficiency of the enzyme α-L-iduronidasa which results in chronic lisosomal deposit of glicosaaminoglicanos (mucopolisacaridos) with cell, tissues and organic damage. It causes death by respiratory failure in patients between the 10 and 40 years of age. At present, the available enzymatic therapy relieves many of the signs and symptoms of this disease. Case report. A five-year-old girl, diagnosed with Type I mucopolysaccharidosis, confirmed by an a-L-iduronidase of 0.4 umol/L/h. (2.2 to 11.7) At three years of age she had ventilation tubes implanted in both timpanic membranes. Tonsillectomy was performed and ventilation tubes were implanted again at 4 years of age. This same year she was operated for correction of scoliosis. In order to perform a cerebral and cervical spine magnetic nuclear resonance she was anesthesized under oxygen (5 L/min) and 3% sevofluorane. Endotracheal intubation at 6 L/min by mask was carried out; she was given 200 mcg of atropine, 20 mcg of fentanyl, and 50 mg of propofol by vein which caused marked sinus bradycardia followed by cardiac arrest. A spontaneous 110/min heart rate took place whence a second irreversible cardiac arrest occurred. Autopsy showed abundant systemic glicosaaminoglicane deposits. Conclusion: There is great anesthetic risk for the patients with MPSI because of the shortness of their neck, infiltration of soft tissues of the upper airway, macroglosia, adenoamigdaline hypertrophy, and atlanto-occipital instability which make access to the airway route and intubation very difficult. These patients should only be put under general anesthesia in facilities where the anesthesiologists have experience in difficult airway intubation. [ABSTRACT FROM AUTHOR]