title: Magnetic resonance spectroscopy in Niemann-Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatin.
abstract: Niemann-Pick type C is an autosomal-recessive, neurovisceral storage disorder that results from defective cholesterol esterification. Cholesterol-lowering agents have been demonstrated to decrease hepatic lipids in Niemann-Pick type C patients. The objective was to determine the effects of cholesterol-lowering agents on neurologic features and to develop a noninvasive method of monitoring clinical response. A 9-month-old boy with progressive hepatosplenomegaly and neurodevelopmental delay was studied. Water-suppressed proton magnetic resonance spectra from a supraventricular volume of central white and gray matter revealed an abnormal lipid signal. The patient was treated with cholesterol-lowering agents (i.e., cholestyramine, lovastatin). Repeat standardized neurodevelopmental assessments (Peabody and Griffith scales) at 13 and 19 months were normal and magnetic resonance spectra no longer detected the previously observed lipid resonance. Early treatment of Niemann-Pick type C patients with cholesterol-lowering agents appeared to have short-term beneficial effects. Magnetic resonance spectra provided a noninvasive means of monitoring CNS response.
authors.affiliation: Department of Neurology/NeuroSurgery, McGill University, Montreal, Canada.
authors.forename: M
authors.initials: M
authors.lastname: Sylvain
authors.forename: D L
authors.initials: DL
authors.lastname: Arnold
authors.forename: C R
authors.initials: CR
authors.lastname: Scriver
authors.forename: R
authors.initials: R
authors.lastname: Schreiber
authors.forename: M I
authors.initials: MI
authors.lastname: Shevell
mesh_terms: D001921:Brain / Q000187:drug effects* / Q000378:metabolism / Q000473:pathology; D002791:Cholesterol, Dietary / Q000008:administration & dosage; D002792:Cholestyramine Resin / Q000008:administration & dosage* / Q000009:adverse effects; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003131:Combined Modality Therapy; D005500:Follow-Up Studies; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007223:Infant; D050356:Lipid Metabolism; D008148:Lovastatin / Q000008:administration & dosage* / Q000009:adverse effects; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009483:Neuropsychological Tests; D009542:Niemann-Pick Diseases / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics
chemical_list: D002791:Cholesterol, Dietary; D002792:Cholestyramine Resin; D008148:Lovastatin