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cl:niemann-pick-type-c [on April 25, 2020]
cl:niemann-pick-type-c [on January 28, 2021] (current)
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 ===== Primer ===== ===== Primer =====
 **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.[([[https://​www.ncbi.nlm.nih.gov/​pubmed/​12640083|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)** 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.[([[https://​www.ncbi.nlm.nih.gov/​pubmed/​12640083|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.]])]
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 ===== Physical Exam ===== ===== Physical Exam =====
 +  * Individuals may have hepatosplenomegaly
 +  * "​Cherry-red"​ spot on macula
   * [[https://​www.ncbi.nlm.nih.gov/​pmc/​articles/​PMC3511378/​|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.]]   * [[https://​www.ncbi.nlm.nih.gov/​pmc/​articles/​PMC3511378/​|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.]]