An Anesthetic Experience in a Patient with Niemann-Pick Disease: A case report.
10.4097/kjae.2008.54.1.109
- Author:
Jun Hwa LEE
1
;
Woo Suk JUNG
;
Ho Yung LEE
;
A Reum KIM
;
Hee Suk YOON
;
Yung Kwon GO
Author Information
1. Department of Anesthesiology and Pain Medicine, College of Medicine, Chungnam University, Daejeon, Korea. meister@cnu.ac.kr
- Publication Type:Case Report
- Keywords:
endotracheal intubation;
Niemann-Pick disease;
propofol;
remifentanil
- MeSH:
Ataxia;
Cholesterol;
Cytosol;
Deglutition Disorders;
Female;
Gastrostomy;
Humans;
Intellectual Disability;
Intubation, Intratracheal;
Lysosomes;
Muscle Spasticity;
Myoclonus;
Neuromuscular Blockade;
Niemann-Pick Diseases;
Piperidines;
Propofol;
Respiratory Tract Infections;
Seizures;
Sphingomyelin Phosphodiesterase
- From:Korean Journal of Anesthesiology
2008;54(1):109-112
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Niemann-Pick disease (NPD) is an autosomal recessive, lipid storage disorder caused by the deficiency of the lysosomal enzyme sphingomyelinase or defective cholesterol transport from lysosome to cytosol. The clinical symptoms and signs include dysphagia, loss of motor function, hepatosplenomegaly, recurred respiratory infections, seizure, mental retardation, spasticity, myoclonic jerks and ataxia, but vary depending on the type of this disease. We report a successful anesthetic experience, including endotracheal intubation with Glidescope under propofol and remifentanil infusion without neuromuscular blockade, in a 21-year old woman with Niemann-Pick disease for wound revision of gastrostomy site.
