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Recurrent Seizures in an Adolescent Female With Extensive Intracranial Calcifications: A Case Report of Fahr's Syndrome Secondary to Hypoparathyroidism. | LitMetric

Fahr's syndrome is a rare, progressive, neuropsychiatric disorder characterized by bilateral and symmetrical calcifications over the basal ganglia and other parts of the brain, leading to a wide range of clinical manifestations ranging from neurologic symptoms of movement disorders, seizures, and cerebellar dysfunction to neuropsychiatric symptoms such as dementia, psychosis, and mood disorders. The widespread calcific deposits within the brain tissue that characterize Fahr's syndrome develop secondary to different underlying conditions such as parathyroid disorders, brain infections, and toxic exposures. Hypoparathyroidism, a rare disorder of calcium and phosphate metabolism, is the most commonly identified etiology of Fahr's syndrome. In this case, we report a case of a 17-year-old female patient who presented with status epilepticus. Her past medical history was positive for intermittent episodes of generalized tonic-clonic seizures for the past year. Upon presentation, she had a decreased level of consciousness with a Glasgow Coma Scale score of 9 (eye-opening = 2, verbal response = 2, motor response = 5). Chvostek's and Trousseau's signs were positive. Initial laboratory workup revealed severe hypocalcemia, hyperphosphatemia, and markedly low parathyroid hormone levels. Computed tomography of the brain showed extensive, bilateral, symmetrical calcifications over the basal ganglia, thalami, corona radiata, and dentate nuclei. She was subsequently diagnosed with Fahr's syndrome secondary to hypoparathyroidism and was managed with calcium gluconate, vitamin D, and sodium valproate, which improved her condition. A slit lamp examination of the eyes revealed a bilateral posterior subcapsular cataract more severe in the right eye, for which small incision cataract surgery was performed on her right eye. This case report underscores the importance of considering a diagnosis of Fahr's syndrome in adolescent patients with a history of seizures and unexplained intracranial calcifications on brain imaging. It also emphasizes the necessity of thorough clinical assessment and laboratory tests to identify the underlying cause, as the treatment of Fahr's syndrome primarily focuses on identifying and managing the underlying etiology.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11896603PMC
http://dx.doi.org/10.7759/cureus.78780DOI Listing

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