Casa
niemann pick tipo c

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
PDF) Recommendations on the diagnosis and management 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
Estimated prevalence of Niemann–Pick type C disease in Quebec
Adult onset Niemann-Pick disease type C presenting with psychosis
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect, Orphanet Journal of Rare Diseases
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
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
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
Frontiers Adult-Onset Niemann–Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
Adult onset Niemann-Pick disease type C presenting with psychosis
Subtypes of Niemann-Pick Disease Subtype Prognosis
Adult onset Niemann-Pick disease type C presenting with psychosis
Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
Adult onset Niemann-Pick disease type C presenting with psychosis
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Adult onset Niemann-Pick disease type C presenting with psychosis
PDF) The adult form of Niemann-Pick 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
Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
Adult onset Niemann-Pick disease type C presenting with psychosis
Niemann-Pick disease - Breda Genetics srl Breda Genetics srl
de por adulto (o preço varia de acordo com o tamanho do grupo)