Adult onset Niemann-Pick disease type C presenting with psychosis
Por um escritor misterioso
Last updated 07 janeiro 2025
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.
The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood
Niemann-Pick disease type C as a neurovisceral disease. Schematic
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
Spectrum of Movement Disorders in Niemann-Pick Disease Type C - Tremor and Other Hyperkinetic Movements
Niemann Pick Disease Type C - Symptoms, Causes, Treatment
Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
Niemann–Pick Disease Type C
Psychiatric symptoms as a harbinger of adult-onset Niemann-Pick Type C - ScienceDirect
Consensus clinical management guidelines for Niemann-Pick disease type C. - Abstract - Europe PMC
Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free
Diagnostic workup and management of patients with suspected Niemann-Pick type C disease - Apostolos Papandreou, Paul Gissen, 2016
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