Turner syndrome MRI

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Akash Daswaney, M.B.B.S[2]

Cardiac MRIs are helpful in screening/detecting the following cardiac abnormalities and functional MRIs have been used to study neural pathways responsible for poor visual spatial skills and executive function.

• Functional MRIs have been used to study neural pathways responsible for poor visual spatial skills and executive function.
• Important insights revealed by functional MRIs include:
  • Visuospatial deficits (visuo-spatial function, visuomotor learning and spatial working memory) in Turner syndrome is hypothesized to be independent of hormone deficiencies and due to abnormalities in parieto-occipital mechanisms/morphology along with volumetric differences in the superior parietal lobule and the postcentral gyrus.
  • Executive skill deficiencies are said to be due to abnormalities in the prefrontal-striatal pathways.
  • Reduced white matter in the frontal parietal pathways and defects in neurodevelopment and connectivity in these regions are responsible for the inability of Turner syndrome patients to link visuo-spatial functioning with executive functioning when performing complex tasks.
  • The patient is able to compensate for this deficiency whilst performing simple tasks by recruiting fronto-parietal resources. This recruitment is not possible during complicated tasks. ^[1]
  • One study suggested that volumetric differences in the amygdala were responsible for poor facial recognition and judgement. Poor connectivity between the amygdala and fusiform and aberrant development in the orbitofrontal cortex and superior temporal sulcus further contribute to this
• A study using brain MRIs to document morphological changes in Turner syndrome patients found significantly smaller volumes in the cerebral hemispheres, the hippocampus, the lenticular nuclei, the thalamic nuclei and parietal occipital brain matter. ^[2]
• Cardiac MRI is helpful in screening the following cardiac abnormalities: ^[3]
  1. Coarctation of aorta
  2. Ventricular septal defect
  3. Bicuspid aortic valve
  4. Aortic dissection
  5. Aortal dilation
  6. Aortic aneurysm
  7. Ischemic heart disease
  8. Atherosclerosis
  9. Elongated transverse aortic arch
  10. Pulmonary venous anomalies
  11. Hypoplastic left heart syndrome
  12. Infective endocarditis

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