Anesthetic consideration of Niemann-Pick Disease type C

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.

Niemann-Pick Disease Type C, A Rare Cause of Pancytopenia: A Case

Anesthetic consideration of Niemann-Pick Disease type C

Consensus clinical management guidelines for Niemann-Pick disease

Niemann-Pick disease types A and B (NORD): Video

IJMS, Free Full-Text

IJMS, Free Full-Text

A novel strategy for delivering Niemann‐Pick type C2 proteins

Niemann-Pick disease type C: Video & Anatomy

2023 Guideline for the Management of Patients With Aneurysmal

GAA deficiency disrupts distal airway cells in Pompe disease