Case Presentation: A 40-year-old male with no medical history presented to the ED for confusion. His partner revealed that the patient had been drinking his own urine with salt, part of a home detoxification regimen. His partner denied any prior episodes of confusion and denied any known family history or genetic disorders. He was afebrile with normal vitals. Notable labs included: sodium >180 mmol/L (ref 136-145), creatinine 2.1 mg/dL (ref 0.67-1.17), hemoglobin 19.9 gm/dL (ref 13.7-17.5), hematocrit 61.4% (ref 40-50), CPK 3,310 U/L (ref 0-175). Calcium, phosphorus, and parathyroid hormone levels were unremarkable. Patient was only able to state his name and did not have focal neurologic deficits. Computed tomography (CT) of his head showed extensive areas of degenerative mineralization in bilateral basal ganglia, thalamic nuclei, dentate nuclei in the cerebellum, within the brainstem as well as within bilateral supratentorial white matter. Neurology was consulted for concern of Fahr’s syndrome.Hypernatremia and rhabdomyolysis were treated with intravenous fluids. Creatine and CPK normalized. Urine drug screen was negative. Encephalopathy improved, but he was only able to report his name and location. He continued to have mild bradyphrenia and dysarthria. Magnetic resonance imaging (MRI) of the brain demonstrated prominent diffuse calcifications. He was discharged home with plan for outpatient neurology follow-up and genetic counseling.
Discussion: Fahr’s syndrome, characterized by extensive intracranial calcifications primarily in the basal ganglia, is a rare condition with clinical manifestations ranging from extrapyramidal symptoms, memory disorders, and movement disorders [Saleem et al. 2013]. Although basal ganglia calcifications could be incidental findings in asymptomatic patients, the presence of neuropsychiatric symptoms in tandem with characteristic intracranial findings suggests a diagnosis of Fahr’s syndrome [Donzuso et al. 2019].Secondary Fahr’s disease, also known as Fahr’s syndrome, refers to acquired conditions associated with infectious, toxic, and endocrine etiologies. In these conditions, metabolic dysfunction results in an abnormal calcium-to-phosphorus ratio, which consequently leads to calcified deposits [Donzuso et al. 2019].Genetic Fahr’s disease, also referred to as primary familial brain calcification, is diagnosed in the absence of metabolic or other underlying causes. These cases are associated with gene mutations of SLC20A2; other genes such as PDGFRB, PDGFB, and XPR1 have also been implicated [Li et al. 2022, Chen et al. 2023].In our patient, the sudden onset neuropsychiatric symptoms, lack of family history, and absence of progressive decline is suggestive of secondary Fahr’s disease. However, the persistence of encephalopathy despite correction of metabolic insults requires additional investigation about the genesis of his degenerative intracranial calcifications.
Conclusions: Recognizing Fahr’s syndrome, a rare intracranial disease, is crucial as its nonspecific presentation, including altered mental status, can mimic other neuropsychiatric conditions. Early identification of this rare disorder allows for comprehensive care to avoid additional insults and worsening neuropsychiatric symptoms.
