MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis.

ABSTRACT:

Background and purpose

Infantile neuronal ceroid lipofuscinosis is a devastating neurodegenerative storage disease caused by palmitoyl-protein thioesterase 1 deficiency, which impairs degradation of palmitoylated proteins (constituents of ceroid) by lysosomal hydrolases. Consequent lysosomal ceroid accumulation leads to neuronal injury, resulting in rapid neurodegeneration and childhood death. As part of a project studying the treatment benefits of a combination of cysteamine bitartrate and N-acetyl cysteine, we made serial measurements of patients' brain volumes with MR imaging.

Materials and methods

Ten patients with infantile neuronal ceroid lipofuscinosis participating in a treatment/follow-up study underwent brain MR imaging that included high-resolution T1-weigh

SUBMITTER: Baker EH 

PROVIDER: S-EPMC5309144 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature