Perioperative Care of the Adult Patient with Johanson-Blizzard Syndrome  

作　　者：John Nivar Dennerd Ovando Joe Tran Lawrence Chinn John Nivar;Dennerd Ovando;Joe Tran;Lawrence Chinn(Rutgers New Jersey Anesthesiology Residency Program, Newark, NJ, USA;Pediatric Anesthesiology at Loma Linda University Medical Center, Loma Linda, CA, USA)

机构地区：[1]Rutgers New Jersey Anesthesiology Residency Program, Newark, NJ, USA [2]Pediatric Anesthesiology at Loma Linda University Medical Center, Loma Linda, CA, USA

出　　处：《Open Journal of Anesthesiology》2023年第10期212-220,共9页麻醉学期刊（英文）

摘　　要：Johanson-Blizzard syndrome (JBS) is a rare genetic disorder characterized by multiple craniofacial abnormalities, intellectual disability, sensorineural hearing loss, pancreatic exocrine insufficiency, and involvement of other organ systems to varying degrees. Patients with JBS may require surgical intervention to address the underlying phenotypic abnormalities. The many craniofacial abnormalities found in patients with JBS are a concern for the anesthesiologist. We present the case of an adult patient with JBS who is undergoing implantation of a leadless pacemaker. Considering the many cardiac and craniofacial abnormalities in these patients, the anesthesiologist should order diagnostic tests such as echocardiography to assess cardiac function, as well as be prepared to perform advanced airway techniques for difficult airways. The anesthetic provider should be aware of the varied phenotypic expression of JBS and should individualize the anesthetic plan to each patient. Prior medical literature on the anesthetic management of these patients is scarce and limited to pediatric patients. This is the first case report addressing anesthetic concerns in an adult patient with JBS.Johanson-Blizzard syndrome (JBS) is a rare genetic disorder characterized by multiple craniofacial abnormalities, intellectual disability, sensorineural hearing loss, pancreatic exocrine insufficiency, and involvement of other organ systems to varying degrees. Patients with JBS may require surgical intervention to address the underlying phenotypic abnormalities. The many craniofacial abnormalities found in patients with JBS are a concern for the anesthesiologist. We present the case of an adult patient with JBS who is undergoing implantation of a leadless pacemaker. Considering the many cardiac and craniofacial abnormalities in these patients, the anesthesiologist should order diagnostic tests such as echocardiography to assess cardiac function, as well as be prepared to perform advanced airway techniques for difficult airways. The anesthetic provider should be aware of the varied phenotypic expression of JBS and should individualize the anesthetic plan to each patient. Prior medical literature on the anesthetic management of these patients is scarce and limited to pediatric patients. This is the first case report addressing anesthetic concerns in an adult patient with JBS.

关 键 词：Johanson-Blizzard Syndrome ANESTHESIA Difficult Intubation Pancreatic Exocrine Insufficiency Craniofacial Abnormalities 

分 类 号：R73[医药卫生—肿瘤]