Perioperative management of a patient with Jacobsen syndrome

Jacobsen syndrome is a genetic disorder caused by partial deletion of the long arm of chromosome 11. Less than 300 cases have been reported, with some being diagnosed as late as the 4 decade of life. Clinical features include growth and psychomotor delay, characteristic facial anomalies involving the eyes, nose, mouth and ears, skull deformities, abnormal platelet function, congenital heart defects, malformations of the renal, gastrointestinal tract, genitalia, central nervous system, and skeleton. Pathognomonic traits of most concern to the anesthesia provider are those effecting the airway, cardiovascular system, and platelet dysfunction. Given the invariable association of this chromosomal disorder with cardiac, craniofacial, ear, otorhinolaryngologic, and genitourinary malformations, patients with Jacobsen syndrome may present for anesthetic care during various surgical procedures. Primary concerns during such care including potential difficulties with airway management (due to micrognathia/retrognathia, short neck, abnormal mouth size and shape, skull shape), bleeding concerns related to platelet dysfunction, and the high incidence of associated congenital cardiac disease, makes the anesthetic care of such patients challenging. We present a 5-year-old boy with Jacobsen syndrome who required anesthetic care for urologic surgery. The perioperative implications are discussed and suggestions for anesthetic care provided.