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Fahr Disease


KEY FACTS

Terminology

  • Fahr disease (FD)

    • a.k.a. cerebrovascular ferrocalcinosis, bilateral striopallidodentate calcification

  • Rare degenerative neurological disorder

    • Extensive bilateral basal ganglia (BG) calcifications (Ca++)

    • ± progressive dystonia, parkinsonism, neuropsychiatric manifestations

Imaging

  • Bilateral symmetric Ca++ in BG, thalami, dentate nuclei, and cerebral white matter on CT

Top Differential Diagnoses

  • Normal (physiologic)

    • Symmetrical BG Ca++ in middle-aged, elderly patients

  • Pathologic BG Ca++ (e.g., endocrinological)

Pathology

  • FD is often familial yet heterogeneous

  • Characteristic feature: Diffuse neurofibrillary tangles with calcification (a.k.a. Fahr-type calcification)

Clinical Issues

  • Most common signs/symptoms

    • Neuropsychiatric disturbance

    • Cognitive impairment (subcortical dementia)

    • Extrapyramidal movement disorders

  • Ca++/P metabolism, parathyroid hormone levels normal

  • Bimodal pattern of clinical onset

    • Early adulthood (schizophrenic-like psychosis)

    • 6th decade (extrapyramidal syndrome, subcortical dementia)

Diagnostic Checklist

  • BG Ca++ if < 50 years old merits investigation

Axial NECT in patient with Fahr disease demonstrates classic extensive calcifications in the basal ganglia
and thalami
.

Axial T2* GRE MR in the same patient shows low signal in the basal ganglia
. This appearance on T2* GRE is due to a combination of calcification and iron deposition.

Axial T1 MR in the same patient shows T1 shortening in the basal ganglia
. T1 shortening is typical and is secondary to the presence of Fahr-type calcification.

Axial T1 MR in the same patient shows similar T1 shortening in the thalami
. This corresponds to the calcification seen on CT. Fahr disease is a degenerative neurological disorder that manifests as bilateral symmetric calcifications in the basal ganglia, thalami, dentate nuclei, and cerebral white matter.

TERMINOLOGY

Abbreviations

  • Fahr disease (FD)

Synonyms

  • Familial idiopathic basal ganglia calcification

  • Bilateral striopallidodentate calcification

  • Idiopathic familial cerebrovascular ferrocalcinosis

Definitions

  • Rare degenerative neurological disorder

    • Extensive bilateral basal ganglia (BG) calcifications (Ca++)

    • Can lead to progressive dystonia, parkinsonism, neuropsychiatric manifestations

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