MR findings in oculocerebrorenal syndrome.
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.
Carroll
W J
WJ
Department of Radiology, Geisinger Medical Center, Danville, PA 17822.
Woodruff
W W
WW
Cadman
T E
TE
D001921:Brain / Q000473:pathology*; D002648:Child; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis*