Imaging in Fahr's disease: how CT and MRI differ?

To cite: Govindarajan A. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2013-201523 DESCRIPTION A 30-year-old man presented with gradually progressive spasticity of all limbs and dementia for 1 month. A CT scan showed extensive symmetric calcifications involving subcortical white matter of the cerebrum and cerebellum (figure 1), bilateral basal ganglia, thalamus (figure 2) and dentate nucleus (figure 3). An MRI showed the calcifications as T1 hyperintensities and gradient hypointensities. The T2 and fluid-attenuated inversion recovery (FLAIR) images showed ill-defined hyperintense foci in bilateral centrum semiovale (figure 1). MR spectroscopy showed no lactate peak. Blood investigations revealed normal serum levels of calcium, phosphorus and parathyroid hormone. Initial and secondary blood and urine screening showed no evidence of mitochondrial disease. The diagnostic criteria for Fahr’disease is ▸ Bilateral calcification of the basal ganglia; ▸ Progressive neurological dysfunction; ▸ Age of onset is typically fourth or fifth decade, may present earlier in life; ▸ Absence of biochemical and somatic features suggestive of a mitochondrial or metabolic disease; ▸ Absence of an infectious, toxic, or traumatic cause; ▸ Family history. This patient satisfied the first five criteria and was diagnosed with Fahr’s disease. In MRI, most of the calcific foci were underestimated and some were undetected. But T2 and FLAIR images showed hyperintensities in the