Fahr Disease

Fahr Disease

48 year-old-male patient presented with slurring of speech and generalised weakness. Metabolic tests were normal.

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Observation and interpretation

Axial NCCT Brain:

  • Extensive nearly symmetrical calcification of the bilateral basal ganglia – caudate, putamina, globus pallidus.
  • Bilateral symmetrical calcification also seen involving thalami and dentate nuclei of cerebellum.

Principal Diagnosis

Fahr Disease

Differential Diagnosis

Secondary causes of basal ganglia calcification:

  • Endocrinopathies (hypoparathyroidism, pseudo-hypoparathyroidism and pseudo-pseudo-hypoparathyroidism)
  • Inherited causes like mitochondrial disorders
  • CNS infections
  • Vasculitis (SLE)
  • CO poisoning
  • Radiation

Further Management

  • Refer to neurologist.
  • Steady progress of disease is seen – no specific treatment is currently beneficial.
  • Further metabolic tests (if not done) – parathormone, calcium levels.
  • In secondary causes (Fahr Syndrome), aim of treatment is to control underlying disorder

Teaching Points

  • Fahr disease is characterized by excessive calcium deposition in the basal ganglia structures, dentate nuclei and subcortical white matter.
  • Diagnostic criteria include basal ganglia calcifications, absence of features suggesting mitochondrial or metabolic aetiology, family history, absence of trauma, infection, or toxins as an aetiology, progressive CNS dysfunction, presentation in the fourth or fifth decade of life.

References

  • Govindarajan, A. (2013). Imaging in Fahr’s disease: how CT and MRI differ? Case Reports, 2013(nov27 1), bcr2013201523–bcr2013201523. doi:10.1136/bcr-2013-201523 (https://doi.org/10.1136/bcr-2013-201523)
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