OrphanAnesthesia
Z. Quezado • M. Miao

Niemann-Pick Type C

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Keywords ICD 10: E75.242; Synonyms: Juvenile Niemann-Pick disease
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Summary

Niemann-Pick disease type C (NPC) is an autosomal recessive lipid lysosomal storage disorder with incidence of approximately 1:120,000 live births.

NPC involves alterations in the intracellular transport of endocytosed cholesterol and accumulation of unesterified cholesterol in lysosomes and endosomes due to mutations in either the NPC1 or NPC2 genes. Clinically, patients with NPC can present with a spectrum of neurological deficits including vertical gaze palsy, dystonia, dysphagia, seizures, and progressive dementia. With systemic disease, hepatosplenomegaly can be severe. Lung involvement can be present and often result from severe neurological impairment and associated dysphagia, recurrent aspirations, and decreased thoracic muscle strength. The disease is associated with a significant decrease in life expectancy, and unfortunately effective therapy is lacking. Given the spectrum of severity, the broad spectrum of clinical presentation, and the involvement of various organs, it is highly likely that many NPC patients will require diagnostic and therapeutic procedures during the course of their disease, which will require anaesthesia.

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