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.
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
Subtypes of Niemann-Pick Disease Subtype Prognosis
Niemann-Pick disease type C, Orphanet Journal of Rare Diseases
Mitochondrial G8292A and C8794T mutations in patients with Niemann‑Pick disease type C Corrigendum in /10.3892/br.2018.1156
PDF) The adult form of Niemann-Pick type C
Niemann–Pick disease, type C - Wikipedia
SciELO - Brazil - Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed NPC1 Allele Distinct Niemann-Pick Disease Type C Clinical, Cytological, and
Recommendations for the detection and diagnosis of Niemann-Pick disease type C
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
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