Adult onset Niemann-Pick disease type C presenting with psychosis

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Descrição

Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures. A recent case report demonstrated a delay in diagnosis of eight years when a patient with NPC presented with psychosis. This article reviewed all cases seen at the Mayo Clinic with a possible diagnosis of NPC between 1976 and 2000. Of the 52 possible cases, five had an established diagnosis of adult onset NPC. Of these, two presented with psychosis and were not diagnosed with NPC for 5 and 15 years, respectively. NPC may initially present in adulthood with psychosis, and when psychosis is associated with VSGP, various dyskinesias, and seizures, NPC should be suspected.
Adult onset Niemann-Pick disease type C presenting with psychosis
Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update - ScienceDirect
Adult onset Niemann-Pick disease type C presenting with psychosis
Full article: Cognition and anatomy of adult Niemann–Pick disease type C: Insights for the Alzheimer field
Adult onset Niemann-Pick disease type C presenting with psychosis
Niemann-Pick disease type C – topic of research paper in Biological sciences. Download scholarly article PDF and read for free on CyberLeninka open science hub.
Adult onset Niemann-Pick disease type C presenting with psychosis
PDF) Recommendations on the diagnosis and management of Niemann-Pick disease type C
Adult onset Niemann-Pick disease type C presenting with psychosis
Adult‐onset Niemann–Pick disease type C masquerading as spinocerebellar ataxia - Vo - 2022 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Adult onset Niemann-Pick disease type C presenting with psychosis
Niemann-Pick disease type C in Adults.pptx
Adult onset Niemann-Pick disease type C presenting with psychosis
IJMS, Free Full-Text
Adult onset Niemann-Pick disease type C presenting with psychosis
Niemann-Pick Disease Concise Medical Knowledge
Adult onset Niemann-Pick disease type C presenting with psychosis
IJMS, Free Full-Text
Adult onset Niemann-Pick disease type C presenting with psychosis
Niemann–Pick type C disease as proof‐of‐concept for intelligent biomarker panel selection in neurometabolic disorders - Papandreou - 2022 - Developmental Medicine & Child Neurology - Wiley Online Library
Adult onset Niemann-Pick disease type C presenting with psychosis
Niemann-Pick disease type C
Adult onset Niemann-Pick disease type C presenting with psychosis
Spectrum of Movement Disorders in Niemann-Pick Disease Type C - Tremor and Other Hyperkinetic Movements
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