Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures

J Child Neurol. 2012 Dec;27(12):1541-6. doi: 10.1177/0883073812437243. Epub 2012 Feb 28.

Abstract

Niemann-Pick disease type C, an autosomal recessive lysosomal storage disorder, can present with severe visceral and neurologic involvement and is associated with a significant decrease in life expectancy. As little is known about anesthetic considerations of this disease, we examined the perianesthetic course of patients with Niemann-Pick disease type C. Thirty-two patients with Niemann-Pick disease type C, median age 6.9 years (1.8-33 years), underwent 64 general anesthetics for diagnostic procedures. Perianesthetic morbidity included need for tracheal reintubation, pneumonitis, hypothermia, and seizure. Therefore, Niemann-Pick disease type C-associated neurologic and visceral involvement might have anesthetic implications that neurologists and pediatricians should be aware of and consider discussing with parents, guardians, and the patient's care team when procedures requiring anesthesia are planned. Furthermore, it is important for delivery of safe anesthesia that there is communication among care team members so that all involved understand the disease manifestation spectrum.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Anesthesia / methods*
  • Carrier Proteins / genetics
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Hypnotics and Sedatives*
  • Infant
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Membrane Glycoproteins / genetics
  • Mutation / genetics
  • Niemann-Pick C1 Protein
  • Niemann-Pick Disease, Type C / diagnosis*
  • Niemann-Pick Disease, Type C / genetics
  • Retrospective Studies
  • Young Adult

Substances

  • Carrier Proteins
  • Hypnotics and Sedatives
  • Intracellular Signaling Peptides and Proteins
  • Membrane Glycoproteins
  • NPC1 protein, human
  • Niemann-Pick C1 Protein