International Journal of Pediatrics / 2015 / Article / Tab 5

Review Article

Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician

Table 5

Summary of treatment strategy in NP-C patients.

Type of treatment

() Symptomatic treatment
(a) Gastrointestinal sign
(i) Dysphagia(i) Diet softening and thickening
(ii) Gastrostomy
(ii) Heavy drooling of saliva(i) Oral atropine
(iii) Diarrhea with Miglustat(i) Antidiarrheal agent and reducing dietary sucrose, maltose, and lactose
(b) Neurological sign
(i) Seizures
(i) Antiepileptic drugs
(ii) Cataplexy
(i) Tricyclic antidepressants or CNS stimulants
(iii) Dystonia
(i) Anticholinergic drugs
Trihexyphenydil, benzodiazepines, and
Gamma-aminobutyric acid
(iv) Insomnia(i) Melatonin
(v) Sleep apnea(i) Positive airway pressure
(vi) Spasticity(i) Physiotherapy
(vii) Behavioral or speech problems or schooling difficulties(i) Referring to psychiatric team and special schooling

() Disease-specific treatment(i) Miglustat (Zavesca)
(ii) Tissue and organ transplantation (bone morrow, liver, and hematopoietic stem cells)
(iii) Cholesterol-lowering agents

() New ongoing treatment(i) Histone deacetylase inhibitors
(ii) 2-Hydroxy--cyclodextrin