Niemann-Pick Type C Disease (NPC)

Last edited on January 28, 2021

Niemann-Pick Type C Disease (NPC) is a rare, neurodegenerative, autosomal recessive disease, with an extremely heterogeneous clinical presentation. NPC may initially present in adulthood with psychosis, and when psychosis is associated with a vertical supranuclear gaze palsy, various dyskinesias, and seizures, NPC should be suspected.^[1]

Individuals may have hepatosplenomegaly
“Cherry-red” spot on macula
Abel, L. A., Bowman, E. A., Velakoulis, D., Fahey, M. C., Desmond, P., Macfarlane, M. D., ... & Walterfang, M. (2012). Saccadic eye movement characteristics in adult Niemann-Pick Type C disease: relationships with disease severity and brain structural measures. PloS one, 7(11), e50947.

¹⁾ Josephs, K. A., Van Gerpen, M. W., & Van Gerpen, J. A. (2003). Adult onset Niemann-Pick disease type C presenting with psychosis. Journal of Neurology, Neurosurgery & Psychiatry, 74(4), 528-529.

Niemann-Pick Type C Disease (NPC)

Table of Contents

Primer

Physical Exam

References