Anesthetic consideration of Niemann-Pick Disease type C
Descrição
A known case of NPC1 requiring anesthesia for Percutaneous Endoscopic Gastrostomy is presented and a brief review about molecular basis and recent advances in this field is reviewed. Nieman-Pick disease type C is a rare, autosomal recessive, neurometabolic disorder associated with the accumulation of unesterified cholesterol in lysosomes and late endosomes. Because of multiple organ involvement and wide range of clinical manifestations, these patients will demand multiple diagnostic and therapeutic procedures requiring anesthesia. Sincepathogenesis of this disease is still unknown, further investigations on cellular and molecular basis of NPC is needed. In this report we present a known case of NPC1 requiring anesthesia for Percutaneous Endoscopic Gastrostomy and a brief review about molecular basis and recent advances in this field.
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