Incidental Diagnosis of Fahr's Disease Following Severe Traumatic Brain Injury: A Case Report.
Hadi Ebrahimi, Ali Holakoo, Seyyed Ebrahim Hejazian, Hamed Ahmadian, Amir Hosein Zohrevand, Morteza Sharifzadeh
Abstract
Open AccessFahr's disease is a rare idiopathic neurodegenerative disorder characterized by symmetrical calcifications in the basal ganglia and cerebellar dentate nuclei. Although it may present with diverse neuropsychiatric symptoms, a significant number of cases remain asymptomatic and are only identified incidentally through neuroimaging performed for unrelated medical issues. We present a case of a 43-year-old woman who was brought to the emergency department following a high-impact motor vehicle accident. Brain CT, performed as part of trauma assessment, revealed extensive findings consistent with severe traumatic brain injury, including cerebral edema, contusions, cisternal compression, and skull base fractures. Incidentally, bilateral symmetrical calcifications were noted in the basal ganglia and dentate nuclei-findings unrelated to acute trauma. Subsequent metabolic and endocrine evaluation ruled out secondary causes, confirming a diagnosis of Fahr's disease. This case highlights the diagnostic importance of incidental neuroimaging findings in the acute trauma setting. Although often overshadowed by life-threatening injuries, such calcifications warrant further evaluation to distinguish Fahr's disease from secondary calcification due to metabolic or infectious etiologies. Recognizing Fahr's disease is essential, as it carries implications for long-term neurological surveillance, genetic counseling, and family screening. It is worth mentioning that there is ongoing controversy regarding the most appropriate terminology for this condition, including terms such as Primary Familial Brain Calcification (PFBC) and Primary Bilateral Brain Calcification (PBBC), each of which has its own advantages and limitations. In conclusion, incidental detection of Fahr's disease during emergency neuroimaging emphasizes the need for clinical vigilance and a thorough diagnostic approach, even in critical care settings.