Perioperative management of a patient with Rett syndrome

Rett syndrome is a neurodevelopmental disorder that results from mutations in the genes encoding methyl-cytosine-guanosine binding protein 2 located on the X chromosome. Clinical features of central nervous system involvement include regression of developmental milestones in the late infant and early toddler stages, mental retardation, seizures and other electroencephalographic abnormalities. Given the invariable association of this degenerative disorder with orthopedic deformities including scoliosis, patients with Rett syndrome may present for anesthetic care during various surgical procedures. The complexity of the end-organ involvement, specifically the progressive nature of respiratory and cardiac involvement, makes the anesthetic care of such patients challenging. Specific perioperative concerns include potential difficulties with airway management, an underlying seizure disorder, an increased sensitivity to anesthetic agents, prolonged QT syndrome, and diabetes mellitus. We present an 11-year-old girl with Rett syndrome who required anesthetic care for posterior spinal fusion. Previous reports of anesthetic care for these patients are reviewed, the end-organ involvement discussed, and options for anesthetic care presented.