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Familial Fahr's disease presenting with Parkinsonism in a young male
Nazia Dildar1, Hamid Akram1, Imran Masood Qasmi1
1Department of Radiology, Armed Forces Institute of Radiology and Imaging (AFIRI), Rawalpindi.
Abstract:
Fahr's syndrome is a rare idiopathic neurodegenerative disorder which can present with wide spectrum of symptoms. It is characterized by bilateral symmetrical dystrophic intracranial calcification. It most commonly involves basal ganglia. A 30 years old male patient presented with progressive speech slurring and tremors of the right upper limb for last five years. His brain imaging studies revealed findings of extensive dystrophic calcification. He had an elder sister who had progressive limb weakness, tremors and speech slurring. Her brain imaging studies also showed same findings. On the basis of family history, neuroimaging findings and laboratory investigations, patient was diagnosed with the case of familial Fahr's disease. Fahr's disease should be considered as an important differential diagnosis in cases of Parkinsonism refractory to the treatment.
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