MRI and proton spectroscopy in Lowe syndrome

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder chara cterized by major abnormalities of eyes, nervous system, and kidneys. We re port two patients with typical intracranial lesions on MRI. The proton spec troscopy study of the periventricular white matter showed a moderate elevat ion of the signal at 3.56 ppm in the patient with cystic lesions. This reso nance is usually assigned to myo-inositol and interpreted as a glial marker . In our patient it could also represent a true accumulation inside the cys ts of phosphatidylinositol 4,5-biphosphate which is not degraded in patient s with Lowe syndrome.