Ana Maria Araújo, Jorge Matos Orfão and Humberto Machado
Niemann-Pick disease type C is an autosomal recessive lysosomal storage disorder that is characterized by
severe visceral and neurologic involvement. The age of clinical onset diverges widely and the patients can present
with a wide-ranging spectrum of signs and symptoms.
As literature on anaesthetic implications of these patients is scarce, we analysed the anaesthetic management of
a 20-year old patient in a terminal progression state of the disease. The patient was admitted at our hospital for
elective bilateral submandibular sialoadenectomy owing to chronic sialorrhea.
The difficulties and challenges arising during the anaesthetic procedure are discussed and a comprehensive
analysis regarding the decision of discharging the patient at the same day of the procedure is also performed.
The main important directives for safe anesthetic management in Niemann-Pick disease type C patients are
indicated with particular relevance being attributed to the anticipation and evaluation of each case individually.