title: The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat.
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.
authors.affiliation: Department of Pediatrics, "Federico II" University, Naples, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Fecarotta
authors.forename: Michele
authors.initials: M
authors.lastname: Amitrano
authors.forename: Alfonso
authors.initials: A
authors.lastname: Romano
authors.forename: Roberto
authors.initials: R
authors.lastname: Della Casa
authors.forename: Diana
authors.initials: D
authors.lastname: Bruschini
authors.forename: Luca
authors.initials: L
authors.lastname: Astarita
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Parenti
authors.forename: Generoso
authors.initials: G
authors.lastname: Andria
mesh_terms: D017485:1-Deoxynojirimycin / Q000031:analogs & derivatives* / Q000627:therapeutic use; D002648:Child; D003679:Deglutition / Q000502:physiology*; D003680:Deglutition Disorders / Q000150:complications / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000503:physiopathology*; D003710:Demography; D004791:Enzyme Inhibitors / Q000627:therapeutic use*; D005260:Female; D005471:Fluoroscopy; D006801:Humans; D007223:Infant; D008297:Male; D052556:Niemann-Pick Disease, Type C / Q000150:complications / Q000000981:diagnostic imaging* / Q000188:drug therapy* / Q000503:physiopathology; D014741:Video Recording
chemical_list: D004791:Enzyme Inhibitors; D017485:1-Deoxynojirimycin; C059896:miglustat