Presentation
Deterioration in frontal executive function, planning and organization. Some expressive language difficulty (more than receptive). Reduced attention. Sister, mother and uncle with MND and dementia
Patient Data
There is volume loss in the frontal lobes seen both as widening of the interhemispheric and lateral sulci, associated with ex vacuo dilatation of the lateral ventricles anteriorly. Minor chronic small vessel ischemic change. No corticospinal tract hyperintensity. Mesial temporal lobes are preserved.
RADIOPHARMACEUTICAL: 99mTc ECD, 714 MBq
These studies show severe hypoperfusion in the left posterior frontal and anterior temporal lobes along the Sylvian fissure as well as in the left superior temporal gyrus. Similar but milder lesions are seen in the right cerebral hemisphere. No definite abnormality is seen in the precuneus posterior cingulate regions. There is also hypoperfusion of the basal ganglia and midbrain but not the cerebellum.
Genetic testing
The patient went on to have genetic testing and was found to be FTD-MND C9orf72 positive.
This moderate regional volume loss of the frontal lobes bilaterally, right worse than left, slightly more pronounced than previously. Mild volume loss of the left temporal lobe. The remainder of the cerebral volume is within normal limits for age. Bilateral frontal reduced relative cerebral blood flow on ASL perfusion.
Mild periventricular white matter hyperintensity is likely due to mild chronic small vessel disease.
No high FLAIR signal along the corticospinal tracts to suggest imaging features of motor neuron disease.
Conclusion: Slightly progressed frontal lobe volume loss since the previous study, compatible with the given diagnosis of frontotemporal dementia. No imaging features of motor neuron disease.
Case Discussion
Increasingly the overlap between various frontotemporal dementia subtypes and other neurodegenerative diseases is being recognized. In this instance, FTD-MND was confirmed by the identification of C9ORF72 mutation.
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