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Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult

Please always quote using this URN: urn:nbn:de:bvb:20-opus-171001
  • Niemann–Pick type C disease (NP-C) presents with heterogeneous neurological and psychiatric symptoms. Adult onset is rare and possibly underdiagnosed due to frequent lack of specific and obvious key symptoms. For both early and adolescent/adult onset, the available data from studies and case reports describe a positive effect of Miglustat (symptom relief or stabilization). However, due to the low frequency of NP-C, experience with this therapy is still limited. We describe two adult-onset cases of NP-C. In both cases, vertical supranuclear gazeNiemann–Pick type C disease (NP-C) presents with heterogeneous neurological and psychiatric symptoms. Adult onset is rare and possibly underdiagnosed due to frequent lack of specific and obvious key symptoms. For both early and adolescent/adult onset, the available data from studies and case reports describe a positive effect of Miglustat (symptom relief or stabilization). However, due to the low frequency of NP-C, experience with this therapy is still limited. We describe two adult-onset cases of NP-C. In both cases, vertical supranuclear gaze palsy was not recognized at symptom onset. Correct diagnosis was delayed from onset of symptoms by more than 10 years. The video demonstrates the broad spectrum of symptoms in later stages of the disease. Compared with published data, the treatment outcome observed in our cases after delayed initiation of Miglustat therapy was disappointing, with continuing disease progression in both cases. Thus, early treatment initiation could be necessary to achieve a good symptomatic effect. Hence, early biochemical testing for NP-C should be considered in patients suffering from atypical neurological/neuropsychological and psychiatric symptoms, even in cases of uncertainty.show moreshow less

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Metadaten
Author: Tobias Piroth, Kai Boelmans, Florian Amtage, Michel Rijntjes, Anna Wierciochin, Thomas Musacchio, Cornelius Weiller, Jens Volkmann, Stephan Klebe
URN:urn:nbn:de:bvb:20-opus-171001
Document Type:Journal article
Faculties:Medizinische Fakultät / Neurologische Klinik und Poliklinik
Language:English
Parent Title (English):Frontiers in Neurology
Year of Completion:2017
Volume:8
Issue:108
Source:Frontiers in Neurology 2017, Volume 8, Article 108. DOI: 10.3389/fneur.2017.00108
DOI:https://doi.org/10.3389/fneur.2017.00108
Pubmed Id:http://www.ncbi.nlm.nih.gov/pubmed?term=28421028
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Tag:NPC1 gene; NPC2 gene; Niemann–Pick disease type C; adult-onset; plasma oxysterols
Release Date:2019/10/15
Licence (German):License LogoCC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International