title: A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome.
abstract: A 40-year-old man was referred to our hospital because of vertical supranuclear gaze palsy, frequent sudden loss of muscle tonus and ataxia for several years. He had a history of prolonged neonatal jaundice. He was given a diagnosis of autism in his childhood, followed by a diagnosis of schizophrenia in his teenage. He also developed a savant skill of calendar calculating. (123)I-IMP-SPECT showed decreased cerebral blood flow in the left frontotemporal lobe as often seen in savant syndrome. Although genetic analysis of NPC1 and NPC2 revealed no pathogenic mutation, filipin staining of cultured fibroblasts from his biopsied skin revealed a certain amount of intracellular cholesterol storage pattern, indicating a variant biochemical phenotype of Niemann-Pick disease type C (NPC). The diagnosis of adulthood onset NPC is difficult and challenging, especially for neurologists, because the symptoms and signs are not as clear as those in the classical childhood onset NPC and this subtype is not yet widely known. However, the diagnosis can be made by a combination of filipin staining of fibroblast and/or gene analysis. As a disease-specific therapy for NPC has been approved in Japan, the diagnosis of NPC is of significance.
authors.affiliation: Department of Neurology, Kyoto University Graduate School of Medicine.
authors.forename: Mio
authors.initials: M
authors.lastname: Hamatani
authors.forename: Naoto
authors.initials: N
authors.lastname: Jingami
authors.forename: Kengo
authors.initials: K
authors.lastname: Uemura
authors.forename: Naoe
authors.initials: N
authors.lastname: Nakasone
authors.forename: Hisanori
authors.initials: H
authors.lastname: Kinoshita
authors.forename: Hodaka
authors.initials: H
authors.lastname: Yamakado
authors.forename: Haruaki
authors.initials: H
authors.lastname: Ninomiya
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Takahashi
mesh_terms: D000328:Adult; D001321:Autistic Disorder / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D005347:Fibroblasts; D005372:Filipin; D005820:Genetic Testing; D006801:Humans; D008297:Male; D052556:Niemann-Pick Disease, Type C / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D010641:Phenotype; D012559:Schizophrenia / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D013194:Staining and Labeling; D013577:Syndrome; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D005372:Filipin