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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.
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.
Abstract:
Fahr's disease is a rare genetically dominant disease. It is characterized by the idiopathic deposition of calcium in the basal ganglia and cerebral cortex. The condition may cause motor impairment, impaired muscle tone, dementia, seizures, impairment of eye movements, speech, abnormal hand movements, cognitive impairment, and ataxia. The thalamus, white matter, and basal ganglia can be involved. A 77-year-old man with multiple comorbidities presented with a complaint of increasing confusion, altered mental status, dystonia, tremor, and hallucinations. The patient's daughter reported that he sounded confused and inappropriate in his speech. A computerized tomography (CT) scan of the head without contrast revealed a "dense calcification of the dentate nuclei and the basal ganglia" and "subcortical calcification of the frontal and occipital lobes." The patient was diagnosed with late-onset Fahr's disease. Fahr's disease is caused by idiopathic calcification of the bilateral basal ganglia. A wide variety of symptoms are associated with this condition. Fahr's disease should be considered in the differential diagnosis in geriatric patients suffering from cognitive impairment and movement disorders.
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