Dildar Nazia, Akram Hamid, Qasmi Imran Masood, Qureshi Muhammad Nazir, Khan Sara
Department of Radiology, Armed Forces Institute of Radiology and Imaging (AFIRI), Rawalpindi.
J Coll Physicians Surg Pak. 2014 May;24 Suppl 2:S104-6.
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.
法尔氏综合征是一种罕见的特发性神经退行性疾病,可表现出广泛的症状。其特征为双侧对称性营养不良性颅内钙化。最常累及基底神经节。一名30岁男性患者在过去五年中出现进行性言语不清和右上肢震颤。他的脑部影像学检查显示有广泛的营养不良性钙化。他有一个姐姐,患有进行性肢体无力、震颤和言语不清。她的脑部影像学检查也显示了相同的结果。根据家族史、神经影像学检查结果和实验室检查,该患者被诊断为家族性法尔氏病。在治疗难治性帕金森病的病例中,应将法尔氏病视为重要的鉴别诊断。