Fahr's disease: a rare manifestation of a metabolic disease
Keywords:
seizures, movement disorders, neurological disorderAbstract
Introduction: Fahr disease is a rare neurological disorder characterized by bilateral and symmetrical cerebral calcifications, mainly involving the basal ganglia, which may be associated with neurological and neuropsychiatric manifestations. Its diagnosis requires exclusion of secondary causes of cerebral calcification and metabolic abnormalities.
Objective: To present a case of bilateral cerebral calcification compatible with Fahr disease, clinically manifested by a seizure.
Clinical case: A 62-year-old woman with a history of arterial hypertension and type 2 diabetes mellitus, treated with enalapril, hydrochlorothiazide, and metformin, was admitted to the emergency department after a generalized tonic-clonic seizure that resolved spontaneously. Physical examination revealed stupor, bilateral nonreactive miosis, right hemiparesis, and myoclonus of the left upper limb. Laboratory tests showed no relevant metabolic abnormalities, except hyperglycemia. Non-contrast computed tomography of the brain revealed bilateral and symmetrical calcifications involving the basal ganglia, periventricular regions, cerebellum, and other brain structures, with no evidence of hemorrhagic or ischemic lesions. After secondary causes were excluded, a diagnosis of Fahr disease was established. The patient received anticonvulsant treatment and showed favorable clinical progression, with improvement of the neurological manifestations. She was discharged seven days after admission and scheduled for outpatient follow-up.
Conclusions: Fahr disease should be considered in the differential diagnosis of patients with neurological manifestations of unclear etiology and bilateral symmetrical cerebral calcifications. Brain computed tomography is a tool for its identification, while exclusion of metabolic and secondary causes is essential for establishing the diagnosis.
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