Clinical and CT features of Fahr disease: a report of 2 families / 中华放射学杂志

ABSTRACT

Objective To explore the clinical manifestations, CT features, and inheritance pattern of Fahr disease. Methods Head CT was scanned and serum calcium and phosphorum were measured in 14 persons from 2 families, and the 2 families' history was investigated. Results The serum calcium and phosphorum were normal in the 14 persons. There were 8 cases of Fahr disease, and the head CT showed local or diffuse calcium deposition in bilateral basal ganglia, subcortex, and thalamus, respectively. The inheritance pattern of the 8 cases of Fahr disease in the two families showed holandric inheritance, The clinical symptom and sign included seizures, irritability, mental retardation or no abnormal findings. Conclusion Fahr disease is a hereditary disease characterized by idiopathy and calcium deposition in the central nervous system. The clinical feature is various and head CT is an important examination in the diagnosis of Fahr disease.