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Enhanced perfusion in eyes and cerebral perfusion defects in a patient with Fragile X Syndrome
Tansel Ansal Balci1, Ismail Ciftci, Nimet Kabakus
1Department of Nuclear Medicine, Firat University Medical Faculty, Elazig, Turkey. tansel_balci@yahoo.com
Insights
Brain SPECT imaging revealed unusual orbital uptake and cerebral hypoperfusion in a child with Fragile X syndrome (FXS). This suggests SPECT is valuable for detecting brain abnormalities in FXS, even with normal MRI findings.
Area of Science:
- Neuroscience
- Radiology
- Genetics
Background:
- Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability.
- Standard neuroimaging like MRI may not reveal all functional brain abnormalities in FXS.
- Brain perfusion imaging offers insights into cerebral blood flow and metabolic activity.
Purpose of the Study:
- To investigate brain perfusion using SPECT in a pediatric patient diagnosed with Fragile X syndrome.
- To evaluate the utility of Technetium-99m hexamethyl propylene amine oxime (99mTc-HMPAO) SPECT in identifying FXS-related brain changes.
- To correlate SPECT findings with MRI and ophthalmologic examinations.
Main Methods:
- A 6-year-old boy with FXS underwent brain perfusion SPECT using 99mTc-HMPAO.
- Ophthalmologic examination and Magnetic Resonance Imaging (MRI) were performed.
- SPECT images were analyzed for cerebral perfusion patterns and orbital uptake.
Main Results:
- SPECT demonstrated diffuse bilateral 99mTc-HMPAO uptake in the orbits.
- Cortical perfusion defects were observed, specifically hypoperfusion in the right parietal and left temporal lobes.
- MRI revealed cerebellar and vermian hypoplasia but no orbital abnormalities; ophthalmologic exam was normal.
Conclusions:
- Unusual orbital 99mTc-HMPAO uptake in FXS may relate to visual-motor abnormalities or transient increased ocular blood flow.
- SPECT imaging successfully identified cerebral hypoperfusion in FXS, complementing normal MRI findings.
- 99mTc-HMPAO SPECT is a valuable tool for detecting brain abnormalities in children with Fragile X syndrome.
Abstract:
Fragile X syndrome (FXS) is known as the most common form of inherited mental retardation. In our study, brain perfusion single photon emission computed tomography (SPECT) was performed in a 6 year-old boy diagnosed with FXS. Diffuse bilateral uptake of Technetium-99m hexamethyl propylene amine oxime (99mTc-HMPAO) was noted in his orbits, as well as cortical perfusion defects (hypoperfusion in the right parietal and the left temporal lobe). Ophthalmologic examination showed no pathological findings. Magnetic resonance imaging (MRI) revealed no abnormality in the orbital structures, although hypoplasia of cerebellum and vermis was visualized. Since the patient was crying during the injection, the increased blood flow or the increased metabolism of the eyes and/or ocular muscles may be responsible for this orbital finding. Alternatively, the enhanced uptake of HMPAO in the orbits may reflect the pathology associated with FXS, because patients with FXS might have visual-motor abnormalities. To the best of our knowledge, there has been no report documenting such an orbital uptake of HMPAO. Moreover, the visualization of decreased cerebral perfusion, with the normal findings of MRI, indicates that brain SPECT imaging with HMPAO is helpful for detecting brain abnormalities in children with FXS.
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