Abstract
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.
Highlights
Niemann-Pick disease type C (NP-C) comprises alterations in the cellular transport of endocytosed cholesterol and accumulation of unsterified cholesterol in lysosomes and endosomes due to mutations of either the NPC1 or the NPC2 genes
One of the upmost problems is related with lung ventilation, comprising complications associated with restrictive alterations in the lungs
Since the patient has shown no signs of liver disease, the main anaesthetic considerations were related to pulmonary disease and lung ventilation
Summary
Niemann-Pick disease type C (NP-C) comprises alterations in the cellular transport of endocytosed cholesterol and accumulation of unsterified cholesterol in lysosomes and endosomes due to mutations of either the NPC1 or the NPC2 genes. The neurologic disorders consist of cerebellar ataxia, seizures, dysarthria, dysphagia, dystonia, cataplexy and progressive dementia. Literature on anaesthetic implications on NP-C patients is scarce and few cases have been published [2,3,4]. The patient has shown full dependence while performing daily living activitie and clinical neurological manifestations, including dystonia, dysphagia, seizures, aphasia and dementia, were observed. The patient revealed a great difficulty in the elimination of salivary secretions, either because of dysphagia or decreased thoracic muscle strength. The accumulation of these secretions triggered apnea episodes and airway permeability was supported by a cough-assist therapy and a suction device. J Anesth Clin Res 6: 509. doi:10.4172/2155-6148.1000509
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
