Adult onset Niemann-Pick disease type C presenting with psychosis

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

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Spectrum of Movement Disorders in Niemann-Pick Disease Type C - Tremor and Other Hyperkinetic Movements

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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