Fahr's disease in two siblings in a family: A case report

作者:Wang, Hong; Shao, Bei*; Wang, Liuqing; Ye, Qiang
来源:Experimental and Therapeutic Medicine, 2015, 9(5): 1931-1933.
DOI:10.3892/etm.2015.2356

摘要

Idiopathic basal ganglia calcification, also known as Fahr's disease, is a rare neurological disease characterized by basal ganglia calcification, Parkinsonism and psychiatric symptoms. The majority of patients with Fahr's disease are adults. The present study describes the cases of two patients with Fahr's disease. The patients were brother and sister and their parents were close relatives. The onset age of Fahr's disease in these two patients was early, with the onset age of the brother being in the teens and the sister in early childhood. The patients exhibited different clinical manifestations. The main symptoms of the male patient were Parkinson's disease appearance and the loss of the ability to carry out simple calculations, while the main symptoms of the female patient were grand mal seizures and cerebellar ataxia. Although the two patients had distinct clinical manifestations, they both had similar intracranial multiple calcifications. The computed tomography scan remains the main method used in the diagnosis of Fahr's disease. Following treatment with dopamine and a dopamine receptor agonist, the extra-pyramidal symptoms of the male were significantly relieved. The female patient was administered antiepileptic drugs and there was no recurrence of epilepsy following treatment.