Fahr's Disease With Late Onset: A Case Report

Saba Iqbal1, Mahmoud Nassar1, Howard Chung1

  • 1Internal Medicine, Icahn School of Medicine at Mount Sinai/NYC (New York City) Health+Hospitals/Queens, New York, USA.

Cureus
|April 25, 2022
PubMed

Insights

Fahr's disease, a rare genetic disorder, involves calcium deposits in the brain, leading to cognitive and motor impairments. This case highlights its late-onset presentation in an elderly patient with complex health issues.

Area of Science:

  • Neurology
  • Genetics
  • Radiology

Background:

  • Fahr's disease is a rare, autosomal dominant neurological disorder.
  • It is characterized by idiopathic calcification primarily in the basal ganglia and cerebral cortex.
  • Symptoms can include motor deficits, cognitive decline, and seizures.

Observation:

  • A 77-year-old male presented with confusion, altered mental status, dystonia, tremor, and hallucinations.
  • Computed tomography (CT) scan revealed calcifications in the dentate nuclei, basal ganglia, and subcortical frontal and occipital lobes.
  • The patient's daughter noted speech changes and confusion.

Findings:

  • The patient was diagnosed with late-onset Fahr's disease.
  • The findings confirm the association between basal ganglia calcification and neurological symptoms.
  • This case underscores the heterogeneity of Fahr's disease presentation.

Implications:

  • Fahr's disease should be considered in geriatric patients presenting with cognitive impairment and movement disorders.
  • Early diagnosis and management can potentially improve patient outcomes.
  • Further research into the genetic and pathogenic mechanisms of Fahr's disease is warranted.

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