[Anesthetic management involving difficult intubation in a child with Gaucher disease]

Gaucher disease is the most common of the glycolipid storage disorders caused by the deficiency of glucocerebrosidase, an enzyme which hydrolyzes glucocerebroside to glucose and ceramide. Accumulation of the substrate leads to multiorgan dysfunction involving the brain, spleen, liver, lymph node and bone marrow. In anesthetic management, gastroesophageal reflux leading to recurrent aspiration, pancytopenia and airway difficulties due to trismus, neck extension and upper airway infiltration with glucocerebroside must be considered. We report a case of a 9-year-old boy presenting developmental delay, mild pancytopenia, splenomegary gastroesophageal reflux. He was scheduled for measurement of intra-esophageal pressure, total splenectomy and Nissen fundoplication. Preoperative examination showed trismus and opisthotonic posturing. We predicted difficult airway maintenance and assessed his airway with airway radiograph. Airway narrowing was not shown. For this difficult airway, we made a special mask that has an introducer port for fiberbronchoscope. For the first time, we tried to insert a laryngeal mask, but the insertion was difficult due to trismus and narrowed oral cavity. Then, we used this special mask for the next time. Tracheal intubation was much safer by using this mask for fiberoptic intubation. In Gaucher disease, preoperative assessment of airway difficulties and preparation for this situation are necessary and anesthesiologist must be concerned about aspiration and airway difficulties.