SAGE open medical case reports · 2025
Silent stone: Idiopathic presentation of Fahr's disease.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Jung John K, Zazay Ismail, Burmeister James R, Khan Abdul
Аннотация
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.