Korean J Anesthesiol.  2008 Jan;54(1):109-112. 10.4097/kjae.2008.54.1.109.

An Anesthetic Experience in a Patient with Niemann-Pick Disease: A case report

• Lee JH
• Jung WS
• Lee HY
• Kim AR
• Yoon HS
• Go YK

• KMID: 2236583
• DOI: http://doi.org/10.4097/kjae.2008.54.1.109

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.

Keyword

endotracheal intubation; Niemann-Pick disease; propofol; remifentanil

MeSH Terms

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
Cholesterol
Piperidines
Propofol
Sphingomyelin Phosphodiesterase