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Silent stone: Idiopathic presentation of Fahr's disease
John K Jung1, Ismail Zazay1, James R Burmeister2
1John Sealy School of Medicine, University of Texas Medical Branch, Galveston, TX, USA.
Insights
This case report highlights an idiopathic, asymptomatic Fahr's disease case. Extensive brain calcifications were found incidentally on CT scans in a patient with no neurological symptoms, emphasizing the importance of recognizing radiographic findings.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Fahr's disease is a rare neurodegenerative disorder characterized by bilateral brain calcifications.
- It often presents with movement, cognitive, or psychiatric symptoms, but asymptomatic cases may be underdiagnosed.
Abstract:
Fahr's disease is a rare neurodegenerative disorder that involves bilateral calcifications within the brain, most notably affecting areas such as the basal ganglia, thalami, and cerebellum. It is typically identified through its association with movement abnormalities, cognitive decline, or psychiatric symptoms; however, asymptomatic cases may be underrecognized, with studies suggesting a substantial proportion of patients remain without symptoms.³ In this report, a 45-year-old male came to the emergency department after experiencing a fall, complaining of rib pain and dizziness. During his trauma workup, a noncontrast computed tomography scan of the head incidentally revealed widespread bilateral calcifications in the basal ganglia, thalami, subcortical white matter, and cerebellar dentate nuclei. Subsequent magnetic resonance imaging supported the computed tomography findings, offering a clearer view of the extent of the calcifications. Laboratory tests, including assessments of calcium, phosphate, parathyroid hormone, magnesium, vitamin D, and thyroid function, returned normal results. Furthermore, comprehensive neurological and psychiatric evaluations found no abnormalities. Despite the extensive radiological evidence of brain calcification, the patient had no clinical symptoms. There was also no relevant family history of Fahr's disease. These findings point to an idiopathic, asymptomatic form of the disease. This case emphasizes the importance of recognizing radiographic findings in the absence of clinical symptoms. Although identification and follow-up of such cases is often suggested, there is currently no evidence that this improves patient outcomes. Moreover, documenting asymptomatic cases helps expand understanding of the disease's variability, natural course, and prognostic implications.
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