July 10, 2017 E-Pearl of the Week: Adult-onset Niemann-Pick disease type C

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July 10, 2017

Adult-onset Niemann-Pick disease type C

Niemann-Pick disease type C (NP-C) is a rare autosomal recessive lysosomal storage disease that typically presents in infancy or childhood with hepatosplenomegaly and progressive neurologic decline. NP-C can present as late as the eighth decade of life with a more slowly progressive neurodegenerative disease, characterized by neuropsychiatric symptoms and movement disorders. Symptoms can include psychosis, behavioral changes, dementia, cerebellar ataxia, myoclonus, dystonia, dysphagia, and supranuclear gaze palsy. Miglustat was the first disease-modifying therapy, and cyclodextrin is in development. 1,2,3,4


  1. Di Lazzaro V, Marano M, Florio L, De Santis S. Niemann-Pick type C: focus on the adolescent/adult onset form. Int J Neurosci 2016; 126: 963-971.
  2. Koens LH, Kuiper A, Coenen MA et al. Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C. Orphanet J Rare Dis 2016; 11: 121. 
  3. Maubert A, Hanon C, Metton JP. Adult onset Niemann-Pick type C disease and psychosis: literature review. Encephale 2013; 39: 315-319.
  4. Mishra S, Karan K, Nag D, Sengupta P. Adult onset Niemann-Pick type C disease: Two different presentations. Neurol India 2016; 64: 1044-1047. 

Submitted by Emily Hill, MD, PGY-3 Neurology Resident - Rush University. 

Dr. Hill reports no disclosures.

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