Dalal Priti G, Coleman Melissa, Horst Meagan, Rocourt Dorothy, Ladda Roger L, Janicki Piotr K
Department of Anesthesiology, Penn State Hershey Medical Center, Penn State Hershey Children's Hospital, Hershey, PA, 17033, USA.
Department of Surgery, Division of Pediatric Surgery, Penn State Hershey Children's Hospital, Hershey, PA, 17033, USA.
F1000Res. 2015 Dec 10;4:1423. doi: 10.12688/f1000research.7470.1. eCollection 2015.
A 14-month-old child, recently diagnosed with Niemann-Pick disease type A, presented for a laparoscopic placement of a gastrostomy tube under general anesthesia. The disease was confirmed and further characterized by genetic testing, which revealed evidence of the presence of two known pathogenic mutations in the SMPD1 gene, and enzyme studies showed a corresponding very low level of enzymatic activity of acidic sphingomyelinase. The anesthetic management involved strategies to manage an anticipated difficult intubation and avoid post-operative ventilation.
一名14个月大的儿童，最近被诊断为A型尼曼-匹克病，在全身麻醉下接受了腹腔镜胃造口管置入术。通过基因检测确诊了该疾病并进一步明确了特征，检测发现SMPD1基因存在两个已知的致病突变，酶学研究显示酸性鞘磷脂酶的酶活性相应非常低。麻醉管理包括应对预期困难插管和避免术后通气的策略。
