Adult onset Niemann-Pick disease type C presenting with psychosis

Por um escritor misterioso

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
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine
Adult onset Niemann-Pick disease type C presenting with psychosis
Recommendations on the diagnosis and management of Niemann-Pick disease type C - ScienceDirect
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
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.
Adult onset Niemann-Pick disease type C presenting with psychosis
Niemann-Pick disease type C symptomatology: an expert-based clinical description, Orphanet Journal of Rare Diseases
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
Niemann–Pick Disease Type C
Adult onset Niemann-Pick disease type C presenting with psychosis
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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
Psychiatric symptoms as a harbinger of adult-onset Niemann-Pick Type C - ScienceDirect
Adult onset Niemann-Pick disease type C presenting with psychosis
White and gray matter alterations in adults with Niemann-Pick disease type C
Adult onset Niemann-Pick disease type C presenting with psychosis
Storage disorders and psychosis (Chapter 16) - Secondary Schizophrenia
Adult onset Niemann-Pick disease type C presenting with psychosis
Recommendations for the detection and diagnosis of Niemann-Pick disease type C
Adult onset Niemann-Pick disease type C presenting with psychosis
Systematic review of psychiatric signs in Niemann-Pick disease type C: The World Journal of Biological Psychiatry: Vol 20, No 4
Adult onset Niemann-Pick disease type C presenting with psychosis
PDF] Efficient Investigation and Differential Diagnosis of Childhood Onset Niemann-Pick Type C
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