MAGNETIC-RESONANCE SPECTROSCOPY IN NIEMANN-PICK DISEASE TYPE-C - CORRELATION WITH DIAGNOSIS AND CLINICAL-RESPONSE TO CHOLESTYRAMINE AND LOVASTATIN

Niemann-Pick type C is an autosomal-recessive, neurovisceral storage d isorder that results from defective cholesterol esterification. Choles terol-lowering agents have been demonstrated to decrease hepatic lipid s in Niemann-Pick type C patients. The objective was to determine the effects of cholesterol-lowering agents on neurologic features and to d evelop a noninvasive method of monitoring clinical response. A 9-month -old boy with progressive hepatosplenomegaly and neurodevelopmental de lay was studied. Water-suppressed proton magnetic resonance spectra fr om a supraventricular volume of central white and gray matter revealed an abnormal lipid signal. The patient was treated with cholesterol-lo wering 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 detect ed the previously observed lipid resonance. Early treatment of Niemann -Pick type C patients with cholesterol-lowering agents appeared to hav e short-term beneficial effects. Magnetic resonance spectra provided a noninvasive means of monitoring CNS response.