Abstract
CNS “damage” in certain genetic metabolic diseases is recognized in part by neuropathological abnormalities in non-survivors. One universal characteristic in infants is spongy demyelination (SDI) of cerebral white matter (myelin). The relationship to specific biochemical events is unknown. Hydrogen proton MR sensitive to changes in myelin signal (MRS) is a non-invasive technique highly applicable to the in-vivo study of dysmyelination at all ages. Preliminary studies in several metabolic disorders with/without therapy (Tx) at different ages demonstrates:
MR performed on a superconducting .35 Tesla unit with spin echo technique, spin-spin relaxation time (T2) weighted imaging sequences(repetition time TR), 2000 msec.:echo time (TE) 56 ms, proved most sensitive, These MR findings provide a better understanding of metabolic dysmyelination and the therapeutic CNS response.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Allen, R., Gebarski, S. & Aisen, A. 1657 MAGNETIC RESONANCE (MR) BRAIN IMAGING IN GENETIC METABOLIC DISEASES: DIAGNOSTIC AND THERAPEUTIC IMPLICATIONS. Pediatr Res 19, 387 (1985). https://doi.org/10.1203/00006450-198504000-01681
Issue Date:
DOI: https://doi.org/10.1203/00006450-198504000-01681