title: MRI and proton spectroscopy in Lowe syndrome.
abstract: The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. We report two patients with typical intracranial lesions on MRI. The proton spectroscopy study of the periventricular white matter showed a moderate elevation of the signal at 3.56 ppm in the patient with cystic lesions. This resonance is usually assigned to myo-inositol and interpreted as a glial marker. In our patient it could also represent a true accumulation inside the cysts of phosphatidylinositol 4,5-biphosphate which is not degraded in patients with Lowe syndrome.
authors: Department of Neuroradiology and Magnetic Resonance, University Children's Hospital, Zurich, Switzerland. jacques.schneider@kispi.unizh.ch
authors: J F
authors: JF
authors: Schneider
authors: E
authors: E
authors: Boltshauser
authors: T J
authors: TJ
authors: Neuhaus
authors: C
authors: C
authors: Rauscher
authors: E
authors: E
authors: Martin
mesh_terms: D001921:Brain / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003560:Cysts / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D007223:Infant; D007294:Inositol / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis* / Q000235:genetics; D019269:Phosphatidylinositol 4,5-Diphosphate / Q000378:metabolism; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome
chemical_list: D019269:Phosphatidylinositol 4,5-Diphosphate; D007294:Inositol