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The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat
- Publication Year :
- 2011
-
Abstract
- Niemann-Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder characterized by defective intracellular lipid trafficking, with secondary accumulation of free cholesterol, sphingosine, and glycosphingolipids. NPC is clinically characterized by a wide spectrum of manifestations with progressive visceral and neurological involvement, including dysphagia. Neurological manifestations represent the most debilitating findings. Swallowing impairment is a frequent cause of morbidity and disability in NPC patients and progressive dysphagia may be considered a marker of neurological progression. Recently substrate reduction therapy with miglustat has been proposed for the treatment of neurological manifestations in NPC patients. This observational study reports on the long-term use of miglustat in four pediatric patients with NPC and shows the efficacy of the treatment to improve or prevent dysphagia, and persistence after 3 years of treatment or more. We used a videofluoroscopic analysis of liquid barium swallowing to provide additional information on patterns of impairment of the swallowing mechanism and to detect aspiration. In three patients showing dysphagia and aspiration we observed the improvement of the swallowing function and the sustained absence of barium aspiration in the airways after miglustat treatment, while the patient with normal swallowing function at baseline did not show any deterioration. We suggest that the videofluoroscopic study of swallowing should be routinely used to monitor the effects of treatment on swallowing ability in NPC patients.
- Subjects :
- Male
medicine.medical_specialty
1-Deoxynojirimycin
Video Recording
Gastroenterology
Central nervous system disease
Swallowing
Internal medicine
Miglustat
otorhinolaryngologic diseases
Genetics
medicine
Humans
Substrate reduction therapy
Enzyme Inhibitors
Child
Genetics (clinical)
Demography
Niemann–Pick disease, type C
Esophageal disease
business.industry
digestive, oral, and skin physiology
Infant
Niemann-Pick Disease, Type C
medicine.disease
Dysphagia
Deglutition
Endocrinology
Fluoroscopy
Female
medicine.symptom
Deglutition Disorders
business
Niemann–Pick disease
medicine.drug
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....105174c4121d95c9e7b09ed71d28e23a