Syndromes

One of the unique aspects of pediatric medicine is that we interact with children with syndromes. Syndromes are often the result of a genetic mutation and can lead to multiorgan involvement. Resultant defects may require surgical repair, and so the anesthesiologist needs to be familiar with common, uncommon, and rare syndromes. Some, like the Pierre-Robin sequence, involve airway abnormalities that can make intubation challenging if not impossible. Many involve cardiac anomalies, and if these are not recognized, patients can be gravely harmed.

Today, I provided anesthesia for a patient with an incredibly rare genetic mutation. In looking it up, I found that only 40-some cases have been described in the literature. It demonstrates the incredible impact a single gene mutation can have; this child had developmental delay, high risk of strokes, an abnormal stature, dysplasia of the bones, an immunocompromised state, and kidney failure. Careful research of the disease in question, meticulous planning, and communication with the multidisciplinary providers were central to providing a safe and appropriate anesthetic.