American Journal of Neuroradiology, Vol 14, Issue 2 449-451, Copyright © 1993 by American Society of Neuroradiology
ARTICLES |
MR findings in oculocerebrorenal syndrome
WJ Carroll, WW Woodruff and TE Cadman
Department of Radiology, Geisinger Medical Center, Danville, PA 17822.
Oculocerebrorenal syndrome is an X-linked recessive disorder characterized by congenital ocular abnormalities, mental retardation, renal disease, and metabolic bone disease. We report a case of oculocerebrorenal syndrome and, using T1-, proton density-, and T2- weighted imaging sequences, are able to characterize two distinct white matter abnormalities: one lesion is punctate and has signal characteristics that parallel that of cerebrospinal fluid; a second lesion, found in association with the first, consists of patchy white matter abnormalities that are hypointense on T1-weighted images but hyperintense on proton density- and T2-weighted images.
This article has been cited by other articles:
 |
|
 |
|
  A. Yuksel, E. Karaca, and M. S. Albayram Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, and Facial Dysmorphism in a Case of Lowe Syndrome with Novel OCRL1 Gene Mutation J Child Neurol, January 1, 2009; 24(1): 93 - 96. [Abstract] [PDF]
|
|