Niemann-Pick disease Type C

Introduction: Neimann-Pick disease type C is a neurovisceral lysosomal cholesterol trafficking and lipid storage disorder.NP-C is a rare inherited autosomal recessive disease caused by mutations in one of two genes: NPC1(%95) or NPC2(%5) which lead to impaired intracellular lipid trafficking and accumulation of cholestrol and glycosphingolipids in the brain and other tissues.The clinical signs and symptoms of NP-C can develop at any age,and significant phenotypic heterogeneity is frequently observed in NP-C. Diagnosis can be delayed for years due to heterogeneous presentation. Suspicion Index screening tool developed to aid clinicians in early identification of patients ranking specific symptoms whithin and across domains, including family members who have NP-C to provide a risk prediction score to identify patient who should undergo testing for NP-C.Signs and symptoms of NP-C can be grouped into three categories: visceral,neurological and psychiatric. these include,but are not limited to,neonatal cholestatic jaundice , hepatosplenomegaly, vertical supranuclear gaze palsy(VSGP), gelastic cataplexy, ataxia,dysphagia, dysarthria, dystonia,cognitive impairment and psychosis.The differential diagnosis may include other lipidoses,idiopathic neonatal hepatitis and other cause of cholestatic icterus should be considered in neonates and,conditions with cerebellar ataxia,dystonia,cataplexy and supranuclear gaze palsy in older children and adults.NP-C can be diagnosed with clinical presentation and the complexity of the cell biology(fillipin),biochemical biomarkers and molecular genetics.Current treatment is directed toward the specific symptoms apparent in each individual. Miglustat(Zavesca) may be able to slow the progression of neurological symptoms associated with NP-C.

کلیدواژه ها:

Neimann-pick disease type C ، Neurovisceral ، NP-C genes ، Miglustat