Presentation
History of seizures 10 years ago on antiepileptic drugs. Currently she is complaining of apathy and staring look. History of remote thyroidectomy . The patient on l thyroxine.
Patient Data
Bilateral abnormal signal involving the basal ganglia and to less extent the thalami. They elicit slight high signal on T1 WI and high signal on T2 & FLAIR WI with no diffusion restriction.
On SWI images, there's blooming effect involving the basal ganglia and the dentate nuclei.
On CT scan, calcifications are profound involving the basal ganglia, thalami, subcortical white matter and cerebellar dentate nuclei.
Case Discussion
In this case the signal changes involving the basal ganglia and thalami might be mysterious as they don't elicit high signal on T1 WI as expected. The only clue for Fahr disease was the use of susceptibility weighted imaging with characteristic signal loss.
It's very important to remember that the MRI appearance varies depending on the degree of calcification and the stage of the disease and can be remarkably normal in appearance even when CT changes are profound, unless susceptibility weighted imaging is obtained.
Fahr syndrome, also known as bilateral striatopallidodentate calcinosis, is characterized by abnormal vascular calcium deposition, particularly in the basal ganglia, cerebellar dentate nuclei, and white matter, with subsequent atrophy.
It can be either primary (usually autosomal dominant) or secondary to a large number of underlying illnesses or metabolic disturbances.
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