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.

IJMS, Free Full-Text

Anesthetic complications during general anesthesia without

Peripheral immune system modulates Purkinje cell degeneration in

Potential treatment for Niemann-Pick type C, a rare

Niemann-Pick disease type C1 is a sphingosine storage disease that

Successful Outcome of Pregnancy in Niemann–Pick Disease Type B: A

Niemann-Pick Disease Type C: Implications for Sedation and

Hyperlipidemia as a Complication of Niemann-Pick Type B Disease

Peripheral immune system modulates Purkinje cell degeneration in

Anesthetic consideration of Niemann-Pick Disease type C

Respiratory manifestations in patients with inherited metabolic

Niemann Pick disease

Movement Disorders

PDF) Recommendations on the diagnosis and management of Niemann

Targeting neurological abnormalities in lysosomal storage diseases