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 |
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