AN MRI AND MRS STUDY OF PELIZAEUS-MERZBACHER-DISEASE

Earlier reports on T-2-weighted magnetic resonance imaging (MRT) in th e classical form of Pelizaeus-Merzbacher disease seemed to divide the patterns of the high-intensity lesions in the white matter into three subtypes: type I, diffusely hemispheric and corticospinal; type II, di ffusely hemispheric without brainstem lesions; and type III, patchy in the hemispheres, The four boys presented in our study, between 10 and 17 years of age, with classical Pelizaeus-Merzbacher disease, who all had a duplicated proteolipid protein gene, invariably manifested type I despite their various clinical severities. Follow-up MRI after an i nterval of 5 years and proton magnetic resonance spectroscopy was perf ormed in three of the patients. The white matter on the last MRI was u nchanged in volume and the distribution of high-intense areas. Proton magnetic resonance spectroscopy revealed no abnormal peaks. These resu lts were consistent with the lack of definite neurologic regression in the last 5 years and with the pathologic characteristics of well-pres erved axons and the absence of sclerosis. Further study is required to precisely determine whether the patterns of MRI findings can Be divid ed into subtypes corresponding to those of proteolipid protein gene ab normalities. (C) 1998 by Elsevier Science Inc. All rights reserved.