Patient with Niemann-Pick disease type C: over 20 years' follow-up
Por um escritor misterioso
Last updated 30 julho 2024
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://casereports.bmj.com/content/casereports/2017/bcr-2017-220134/F3.large.jpg)
We report a 37-year-old woman with Niemann-Pick disease type C (NPC) 1. At the age of 8 years, she presented slow running followed by both fingers dystonia at the age of 10 years. At the age of 16 years, she developed declined scholastic achievement. On her first visit at the age of 17 years, she showed dystonia, ataxic gait and vertical supranuclear gaze palsy. We suspected it was NPC. She presented atrophies in the frontal lobes, brainstem and cerebellum in a brain MRI. She presented hepatomegalies and splenomegalies in an abdominal CT. At the age of 26 years, she undertook perpetually tracheal fistula because of recurrent aspiration pneumonia. Diagnosis of NPC1 was made by filipin staining and existence of foamy cells in the bone marrow and NPC1 gene analysis. We obtained informed consent of genetic analysis. Miglustat therapy was started at the age of 32 years. Improvements in swallowing capacity and in muscle tonus were seen.
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://www.researchgate.net/publication/321741305/figure/tbl1/AS:614282312032314@1523467724974/Clinical-patient-groups-with-an-increased-risk-of-Niemann-Pick-disease-type-C-NP-C.png)
Clinical patient groups with an increased risk of Niemann-Pick
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://ars.els-cdn.com/content/image/1-s2.0-S1096719209001681-gr1.gif)
Recommendations on the diagnosis and management of Niemann-Pick
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs13023-019-1124-3/MediaObjects/13023_2019_1124_Fig3_HTML.png)
Evaluation of different suspicion indices in identifying patients
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://checkrare.com/wp-content/uploads/2020/01/Chart-Symptoms-Summarypc-11.10.20-scaled.jpg)
Niemann–Pick Disease Type C
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://onlinelibrary.wiley.com/cms/asset/9f3d778a-05f8-4ca1-80e3-34b15a61aad0/ajmga62382-fig-0002-m.jpg)
Hepatocellular carcinoma as a complication of Niemann‐Pick disease
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://www.thelancet.com/cms/attachment/040179c4-fcc2-4dea-92cc-53e6777de36c/gr1.gif)
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs13023-023-02804-4/MediaObjects/13023_2023_2804_Fig1_HTML.png)
Effects of miglustat therapy on neurological disorder and survival
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://ars.els-cdn.com/content/image/1-s2.0-S1096719221007411-gr2.jpg)
Estimating the prevalence of Niemann-Pick disease type C (NPC) in
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://0.academia-photos.com/attachment_thumbnails/44154388/mini_magick20190214-13671-1d07f4b.png?1550217173)
PDF) Recommendations on the diagnosis and management of Niemann
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://casereports.bmj.com/content/casereports/2017/bcr-2017-220134/F2.large.jpg)
Patient with Niemann-Pick disease type C: over 20 years' follow-up
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://www.frontiersin.org/files/Articles/304222/fphys-08-00982-HTML/image_m/fphys-08-00982-g001.jpg)
Frontiers Lysosomal and Mitochondrial Liaisons in Niemann-Pick
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