title: A case report of 'variant' biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options.
abstract: Niemann-Pick disease type C is a rare hereditary disorder caused by mutation-disrupted metabolism of cholesterol and low-density lipoprotein (LDL). In most patients, symptoms begin in childhood with severe clinical progression. We present a patient with heterozygote mutations 3001A>G and 3019C>G with late onset of the disease and positive response to treatment with miglustat. Behaviour and educational problems in childhood were probably related to the disease diagnosed later.
authors.affiliation: Department of Neurology, Medical University of Warsaw, Warszawa, Poland. zygmunt.jamrozik@wum.edu.pl
authors.forename: Zygmunt
authors.initials: Z
authors.lastname: Jamrozik
authors.forename: Piotr
authors.initials: P
authors.lastname: Szczudlik
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Lugowska
authors.forename: Stefan
authors.initials: S
authors.lastname: Weiß
authors.forename: Arndt
authors.initials: A
authors.lastname: Rolfs
authors.forename: Barbara
authors.initials: B
authors.lastname: Czartoryska
authors.forename: Hubert
authors.initials: H
authors.lastname: Kwieciński
mesh_terms: D017485:1-Deoxynojirimycin / Q000008:administration & dosage / Q000031:analogs & derivatives*; D004791:Enzyme Inhibitors / Q000008:administration & dosage*; D006801:Humans; D008297:Male; D052556:Niemann-Pick Disease, Type C / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics / Q000378:metabolism; D010641:Phenotype; D055815:Young Adult
chemical_list: D004791:Enzyme Inhibitors; D017485:1-Deoxynojirimycin; C059896:miglustat