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Text
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<a href="http://doi.org/10.1016/0887-8994(94)90028-0" target="_blank" rel="noreferrer">http://doi.org/10.1016/0887-8994(94)90028-0</a>
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Title
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Magnetic resonance spectroscopy in Niemann-Pick disease type C: Correlation with diagnosis and clinical response to cholestyramine and lovastatin.
Publisher
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Pediatric Neurology
Date
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1994
Subject
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Chromosome Disorders; Humans; Male; Follow-Up Studies; Longitudinal Studies; Magnetic Resonance Imaging; Combined Modality Therapy; infant; Lipid Metabolism; Neuropsychological Tests; Brain/drug effects/metabolism/pathology; Cholesterol; Cholestyramine/administration & dosage/adverse effects; Chromosome Aberrations/genetics; Dietary/administration & dosage; Genes; Lovastatin/administration & dosage/adverse effects; Magnetic Resonance Spectroscopy; Niemann-Pick Diseases/diagnosis/drug therapy/genetics; Recessive/genetics
Creator
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Sylvain M; Arnold DL; Scriver CR; Schreiber R; Shevell MI
Description
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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.
1994
Identifier
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<a href="http://doi.org/10.1016/0887-8994(94)90028-0" target="_blank" rel="noreferrer">10.1016/0887-8994(94)90028-0</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
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Journal Article
1994
Arnold DL
Backlog
Brain/drug effects/metabolism/pathology
Cholesterol
Cholestyramine/administration & dosage/adverse effects
Chromosome Aberrations/genetics
Chromosome Disorders
Combined Modality Therapy
Dietary/administration & dosage
Follow-up Studies
Genes
Humans
Infant
Journal Article
Lipid Metabolism
Longitudinal Studies
Lovastatin/administration & dosage/adverse effects
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy
Male
Neuropsychological Tests
Niemann-Pick Diseases/diagnosis/drug therapy/genetics
Pediatric Neurology
Recessive/genetics
Schreiber R
Scriver CR
Shevell MI
Sylvain M