- Last edited on January 28, 2021
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cl:niemann-pick-type-c [on September 16, 2018] |
cl:niemann-pick-type-c [on January 28, 2021] |
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====== Niemann-Pick Type C Disease (NPC) ====== | ====== Niemann-Pick Type C Disease (NPC) ====== | ||
+ | {{INLINETOC}} | ||
===== 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.]])] |
===== 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.]] |