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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.
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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