Fahr disease (FD) is a well-defined rare neurodegenerative disease that is characterized by idiopathic bilateral symmetric extensive striopallidodentate calcifications. The patients may present with diverse manifestations, most commonly movement disorder, cognitive impairment, and ataxia. Computed tomography (CT) is considered to be critical for accurate diagnosis because it is difficult to reliably identify calcifications by routine magnetic resonance imaging (MRI). Susceptibility-weighted imaging (SWI) is a relatively new 3D gradient-echo (GE) MR sequence with special phase and magnitude processing. SWI phase images can recognize calcifications definitively with higher sensitivity compared to other MRI sequences. In this article, we present two cases of FD with different manifestations and neuroimaging in different age groups and genders, which were diagnosed by SWI and confirmed with CT, and we discuss the contribution of SWI in the diagnosis of FD. In conclusion, we suggest integrating SWI with MRI protocol to identify calcifications in suspicion of neurodegenerative disorders.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559979PMC
http://dx.doi.org/10.3978/j.issn.2223-4292.2015.04.01DOI Listing

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Article Synopsis
  • * A 60-year-old man without prior health conditions experienced first-time generalized seizures and loss of consciousness, prompting a hospital visit where a brain scan revealed calcifications.
  • * He was diagnosed with epilepsy due to FD after meeting specific criteria, and he responded positively to antiepileptic medication, highlighting the need for careful diagnosis in similar cases.
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