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.

Frontiers Lysosomal and Mitochondrial Liaisons in Niemann-Pick

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

Niemann-Pick disease type C Orphanet Journal of Rare Diseases

Niemann–Pick disease type C1 (NPC1) is associated with early-onset

IJMS, Free Full-Text

Niemann-Pick disease type C clinical database: cognitive and

IJMS, Free Full-Text

Niemann- Pick Disease Type C (NPC) Market Report 2023-2033

Niemann-Pick Disease, Type C1 disease: Malacards - Research

IJMS, Free Full-Text

Treatment outcomes following continuous miglustat therapy in

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