SHM Converge Scientific Abstract ePoster Gallery-Brain Fog: A Case of Fahr's Syndrome and Altered Mental Status

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This case report describes a 40-year-old man who presented with altered mental status and confusion. He was oriented only to his name, gave tangential answers, and at times spoke in both English and Russian. Collateral history revealed that he had been attempting “home detoxification” by drinking his own urine mixed with extra salt.<br /><br />Initial evaluation showed severe hypernatremia (sodium 180 mmol/L), acute kidney injury, elevated BUN and creatinine, leukocytosis, hemoconcentration, and elevated creatine phosphokinase. Calcium, phosphorus, parathyroid hormone, and toxicology testing were unremarkable. Neurologic examination showed no focal deficits. CT and MRI of the brain revealed extensive bilateral intracranial calcifications involving the basal ganglia, thalamus, cerebellum, brainstem, and white matter, consistent with Fahr’s syndrome.<br /><br />The discussion explains that Fahr’s syndrome is a rare disorder marked by idiopathic or secondary calcification in deep brain structures and may present with neuropsychiatric symptoms such as memory problems, movement disorders, extrapyramidal findings, or altered mental status. Secondary cases are often related to metabolic, endocrine, or toxic abnormalities, especially disturbances in calcium-phosphorus balance, while primary Fahr’s disease is a diagnosis of exclusion and may be associated with genetic mutations such as SLC20A2, PDGFRB, and XPR1.<br /><br />The patient’s hypernatremia was corrected gradually with dextrose 5% in water, leading to normalization of sodium and kidney function. His encephalopathy improved, though mild bradyphrenia and dysarthria persisted at discharge. He was sent home with outpatient neurology follow-up and genetic counseling.<br /><br />The key message is that Fahr’s syndrome should be considered when intracranial calcifications are found alongside neuropsychiatric symptoms, since early recognition can help guide care and prevent further neurologic decline.

Asset Subtitle

Noah J. Choi

Meta Tag

Author List Dana Toy, Noah J. Choi

Category Clinical Vignettes

Concept Fahr Syndrome

Concept Intracranial Calcification

Concept Basal Ganglia

Concept Hypernatremia

Concept Encephalopathy

Distinguished Non-Finalist

Presenter Organization University of California San Diego, School of Medicine

Presenting Author Noah J. Choi

Track Adult

Keywords

Fahr syndrome

intracranial calcifications

hypernatremia

altered mental status

encephalopathy

basal ganglia calcification

acute kidney injury

neuropsychiatric symptoms

brain CT MRI

genetic counseling

Fahr Syndrome

Intracranial Calcification

Basal Ganglia

Hypernatremia

Encephalopathy