Patient with Niemann-Pick disease type C: over 20 years' follow-up

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.

Niemann-Pick disease type C-presenting as persistent neonatal

Miglustat in Niemann-Pick disease type C patients: a review

Prevalence of dysphagia in Niemann-Pick disease type C (NP-C) and

Frontiers Case Report: Be Aware of “New” Features of Niemann

Morbidity and mortality in type B Niemann–Pick disease

TRIALS: A Fight for Children with Niemann-Pick Type C, a Fatal

Full article: New therapies in the management of Niemann-Pick type

Niemann-Pick Disease Type C

Confocal LASER endomicroscopy in Niemann–Pick disease type B

Recent advances in the treatment of Niemann pick disease type C: A

Niemann-Pick disease Type C - causes, symptoms, diagnosis

Miglustat in patients with Niemann-Pick disease Type C (NP-C): A

Clinical disease characteristics of patients with Niemann-Pick

IJMS, Free Full-Text

Niemann-Pick Disease Type C: Implications for Sedation and