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.
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