Patient with Niemann-Pick disease type C: over 20 years' follow-up
Por um escritor misterioso
Last updated 31 março 2025

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.

Effects of miglustat therapy on neurological disorder and survival

Niemann-Pick Disease, Type B disease: Malacards - Research

Niemann-Pick disease type C as a neurovisceral disease. Schematic

Diagnostic workup and management of patients with suspected

Treatment outcomes following continuous miglustat therapy in

PDF) Recommendations on the diagnosis and management of Niemann

At a glance: the largest Niemann-Pick type C1 cohort with 602

Niemann-Pick type C: contemporary diagnosis and treatment of a

Niemann-Pick Disease, Type a disease: Malacards - Research

Why are people fighting over a promising treatment for a fatal

Niemann–Pick Disease Type C

IJMS, Free Full-Text
Recomendado para você
-
Niemann-Pick disease type C: Video & Anatomy31 março 2025
-
Parents of twins with Niemann-Pick find a treatment31 março 2025
-
Niemann-Pick Disease, Types A and B31 março 2025
-
JCM, Free Full-Text31 março 2025
-
Niemann–Pick disease31 março 2025
-
Miglustat for treatment of Niemann-Pick C disease: a randomised31 março 2025
-
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological31 março 2025
-
Treatment outcomes following continuous miglustat therapy in31 março 2025
-
Morphology of Niemann-Pick type C metabolic storage disorder31 março 2025
-
Niemann-Pick Disease, Types C1 (D)31 março 2025
você pode gostar
-
Block Dash - Stumble Guys31 março 2025
-
What are some good free browser games that you can play online with friends? - Quora31 março 2025
-
▷ Ousama Ranking Cap 21 【JPN-LAT-CAST】【BD】31 março 2025
-
Naruto Brasil #naruto #gaming #dublador31 março 2025
-
Nintendo Freshens a Game Player - WSJ31 março 2025
-
dududuelista's Top Clips31 março 2025
-
Léo aponta que Brasileirão será a 'Copa do Mundo' do Vasco31 março 2025
-
Indie Platform Itch.io To Introduce Open Rev Sharing31 março 2025
-
Baby ABC's Baby Shower Game - Owl Baby Shower Theme for Baby Girl31 março 2025
-
Doodle Jump SpongeBob SquarePants (iOS) Now Available For Just 99 Cents – Nine Over Ten 9/1031 março 2025