Adult onset Niemann-Pick disease type C presenting with psychosis
Por um escritor misterioso
Last updated 20 setembro 2024
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.
IJMS, Free Full-Text
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update - ScienceDirect
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect, Orphanet Journal of Rare Diseases
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
A Rare Case of Late Adult-Onset Niemann-Pick Disease Type C
Psychiatric symptoms as a harbinger of adult-onset Niemann-Pick Type C - ScienceDirect
Niemann-Pick Disease Type C
Recommendations for the detection and diagnosis of Niemann-Pick disease type C
Niemann-Pick disease type C
Psychiatric symptoms as a harbinger of adult-onset Niemann-Pick Type C - ScienceDirect
Late-onset Niemann–Pick disease type C overlapping with frontotemporal dementia syndromes: a case report
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