| MRI and proton spectroscopy in Lowe syndrome. | |
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MedLine Citation:
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PMID: 11315202 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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J F Schneider; E Boltshauser; T J Neuhaus; C Rauscher; E Martin |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Neuropediatrics Volume: 32 ISSN: 0174-304X ISO Abbreviation: Neuropediatrics Publication Date: 2001 Feb |
Date Detail:
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Created Date: 2001-04-20 Completed Date: 2001-09-20 Revised Date: 2008-01-16 |
Medline Journal Info:
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Nlm Unique ID: 8101187 Medline TA: Neuropediatrics Country: Germany |
Other Details:
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Languages: eng Pagination: 45-8 Citation Subset: IM |
Affiliation:
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Department of Neuroradiology and Magnetic Resonance, University Children's Hospital, Zurich, Switzerland. jacques.schneider@kispi.unizh.ch |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Brain
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pathology Cerebral Ventricles / pathology Child Child, Preschool Cysts / diagnosis, genetics Diagnosis, Differential Follow-Up Studies Humans Infant Inositol / metabolism Linkage (Genetics) / genetics Magnetic Resonance Imaging* Magnetic Resonance Spectroscopy* Male Oculocerebrorenal Syndrome / diagnosis*, genetics Phosphatidylinositol 4,5-Diphosphate / metabolism Sex Chromosome Aberrations / genetics X Chromosome |
| Chemical | |
Reg. No./Substance:
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0/Phosphatidylinositol 4,5-Diphosphate; 6917-35-7/Inositol |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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