Patient with Niemann-Pick disease type C: over 20 years' follow-up
Por um escritor misterioso
Last updated 01 setembro 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://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs13023-018-0913-4/MediaObjects/13023_2018_913_Fig1_HTML.png)
Adult Niemann-Pick disease type C in France: clinical phenotypes
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41598-022-06112-y/MediaObjects/41598_2022_6112_Fig1_HTML.png)
Correlation of age of onset and clinical severity in Niemann–Pick
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://www.tandfonline.com/cms/asset/65fd9d02-1ef6-40d2-8881-afae8018c017/dtcr_a_5777_f0003_b.jpg)
Full article: New therapies in the management of Niemann-Pick type
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://www.neurology.org/cms/10.1212/WNL.0b013e3181e6210e/asset/776323e7-2446-4b3f-9288-7b1f04cba02e/assets/graphic/12ff3.jpeg)
White and gray matter alterations in adults with Niemann-Pick
![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://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs13023-018-0785-7/MediaObjects/13023_2018_785_Fig1_HTML.gif)
Consensus clinical management guidelines for Niemann-Pick disease
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://www.science.org/do/10.1126/science.aal0233/abs/1280x853_61007N_Hempels.jpg)
Why are people fighting over a promising treatment for a fatal
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://www.lenus.ie/bitstream/handle/10147/634397/13023_2022_Article_2200.pdf.jpg?sequence=4&isAllowed=y)
Clinical disease characteristics of patients with Niemann-Pick
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://media-cldnry.s-nbcnews.com/image/upload/newscms/2021_11/1688436/moms-advocate-for-medicine-nc-main-031621.jpg)
Parents of kids with Niemann Pick C advocate for adrabetadex
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](http://malacards.blob.core.windows.net/network-images-v5-17-5/niemann_pick_disease_type_c1_2_related_diseases.jpg)
Niemann-Pick Disease, Type C1 disease: Malacards - Research
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://pub.mdpi-res.com/ijms/ijms-20-04392/article_deploy/html/images/ijms-20-04392-g001.png?1569423130)
IJMS, Free Full-Text
![Patient with Niemann-Pick disease type C: over 20 years' follow-up](https://www.researchgate.net/publication/257184232/figure/fig2/AS:403072313511937@1473111336158/Niemann-Pick-disease-type-C-as-a-neurovisceral-disease-Schematic-representation-of-the.png)
Niemann-Pick disease type C as a neurovisceral disease. Schematic
Recomendado para você
-
A new regulatory mechanism of STARD1 in Niemann-Pick disease type C (NPC), discovered01 setembro 2024
-
Parents of twins with Niemann-Pick find a treatment01 setembro 2024
-
National Niemann-Pick Disease Foundation, Inc. - October is Global01 setembro 2024
-
Niemann-Pick disease type C. The diagram represents subtypes and01 setembro 2024
-
Niemann–Pick type C disease: cellular pathology and01 setembro 2024
-
The Importance of Newborn Screening for Niemann-Pick Disease – NNPDF01 setembro 2024
-
Diagnostic and predictive methods for a Niemann-Pick disease type01 setembro 2024
-
Niemann-Pick Disease, A Pipeline Analysis Report 201801 setembro 2024
-
Critical role for glycosphingolipids in Niemann-Pick disease type01 setembro 2024
-
White and gray matter alterations in adults with Niemann-Pick01 setembro 2024
você pode gostar
-
Atlanta Rapper Shawty Lo Dies In Horrific Car Accident – GAFollowers01 setembro 2024
-
The Game of Life 2007 Edition Milton Bradley Hasbro LIFE Board Game ages 9+01 setembro 2024
-
House Tycoon, Roblox Wiki01 setembro 2024
-
simulador de motorista de carro, Racing in Car 2, jogo de carros01 setembro 2024
-
Senpai ga Uzai Kouhai no Hanashi Episode 5 Discussion (50 - ) - Forums01 setembro 2024
-
Isekai de Cheat Skill wo Te ni Shita Ore wa Genjitsu Sekai wo mo Musou Suru - IntoxiAnime01 setembro 2024
-
Legends Arceus Research Checklist and Lookup : r/PokemonLegendsArceus01 setembro 2024
-
Ultra Hd Dragon Ball Z Wallpaper Ipad01 setembro 2024
-
pervertido kkk - Meme subido por ItachiUchiha12 :) Memedroid01 setembro 2024
-
Block Wars - Album by The Game01 setembro 2024