Fahr syndrome with hypoparathyroidism causing refractory epilepsy
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Drug resistant epilepsy
Basal Ganglia

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Mora-Garzón, E. R. ., Restrepo Valencia, C. A., Parra Santacruz, C. P., & Rodas Restrepo, V. (2022). Fahr syndrome with hypoparathyroidism causing refractory epilepsy. Revista Colombiana De Endocrinología, Diabetes &Amp; Metabolismo, 8(4). https://doi.org/10.53853/encr.8.4.717


Introduction: Primary hypoparathyroidism is characterized by inappropriately low or
absent levels of parathyroid hormone (PTH) which leads to chronic hypocalcemia, and cause neuro-muscular disturbances predominantly.
Purpose: A case of a patient with primary hypoparathyroidism is presented in order to show its clinical characteristics, diagnostic criteria and differential pathologies. The importance of an early diagnosis and a timely treatment that has an impact on the prognosis and quality of life of the patients is evidenced.
Case presentation: We present the case of a 23 years old woman with history of drug
resistant epilepsy that began at 2 months of age, she received multiple anticonvulsant drugs but seizures continue, at the age of 22 years old we documented basal ganglia and frontal calcifications. She was referred to endocrinology. Phosphocalcium profile studies showed severe hypocalcemia, hyperphosphatemia and suppressed PTH.
Discussion and conclusion: The diagnosis of Fahr syndrome associated with primary
hypoparathyroidism was made. Therefore treatment with calcium carbonate and calcitriol was established, achieving control of seizures and finally suspension of anticonvulsant drugs. These findings suggest including primary hypoparathyroidism as a differential diagnosis in patients with refractory epilepsy.

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