Magnetic resonance spectroscopy in Niemann-Pick disease type C: Correlation with diagnosis and clinical response to cholestyramine and lovastatin.

Magnetic resonance spectroscopy in Niemann-Pick disease type C: Correlation with diagnosis and clinical response to cholestyramine and lovastatin.

Sylvain M; Arnold DL; Scriver CR; Schreiber R; Shevell MI

Pediatric Neurology

1994

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

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

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