| Fragile X syndrome and cerebral perfusion abnormalities: single-photon emission computed tomographic study. | |
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MedLine Citation:
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PMID: 17156695 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X syndrome is an inherited disorder caused by a defective gene on the X chromosome. It is associated with developmental or behavioral symptoms and various degrees of mental retardation. Morphologic abnormalities and altered perfusion of various brain areas can underlie these functional disturbances. The aim of this study was to investigate the cerebral perfusion state in patients with fragile X syndrome using single-photon emission computed tomography (SPECT). Structural and functional assessment was also performed by magnetic resonance imaging (MRI) and electroencephalography (EEG). Eight boys with cytogenetically confirmed fragile X syndrome (mean age 8.8 +/- 4.4 years, range 5-18 years), were included. All patients had mental retardation, with a mean IQ of 58.9 +/- 8.8 (range 40-68), and additional neurobehavioral symptoms. SPECT revealed cerebral perfusion abnormalities in six patients (75%), most commonly in the frontoparietotemporal area and prominent in the right hemisphere. The SPECT and EEG findings were concordant: hypoperfused areas in SPECT corresponded to regions of persistent slow-wave paroxysms on EEG. On the other hand, cranial MRI was abnormal qualitatively only in two patients (25%) showing cerebellar and vermal hypoplasia and cerebral hemispheric asymmetry. Our results indicate that cerebral perfusion abnormalities, which are correlated with electrophysiologic findings but not necessarily with anatomic abnormalities, can underlie the pathogenesis of the clinical findings observed in fragile X syndrome. |
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Authors:
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Nimet Kabakus; Mustafa Aydin; Haluk Akin; Tansel Ansal Balci; Abdullah Kurt; Ersoy Kekilli |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of child neurology Volume: 21 ISSN: 0883-0738 ISO Abbreviation: J. Child Neurol. Publication Date: 2006 Dec |
Date Detail:
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Created Date: 2006-12-12 Completed Date: 2007-02-23 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: Canada |
Other Details:
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Languages: eng Pagination: 1040-6 Citation Subset: IM |
Affiliation:
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Department of Pediatric Neurology, Firat University Faculty of Medicine, Elazig, Turkey. nimetkabakus@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Brain / abnormalities, physiopathology, radionuclide imaging* Cerebral Arteries / physiopathology Cerebrovascular Circulation / physiology Cerebrovascular Disorders / physiopathology, radionuclide imaging* Child Child, Preschool Electroencephalography Fragile X Syndrome / physiopathology, radionuclide imaging* Functional Laterality / physiology Humans Magnetic Resonance Imaging Male Mental Retardation / genetics, physiopathology, radionuclide imaging* Predictive Value of Tests Tomography, Emission-Computed, Single-Photon* |
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