Pseudohypoparathyroidism type Ia manifesting as intractable epilepsy in a 23-year-old female

摘要

Abstract: Pseudohypoparathyroidism is a rare disorder of calcium metabolism that involves target organ resistance to the action of the parathyroid hormone. As a result, calcium levels may become dangerously low, sometimes leading to seizures and other symptoms. We present a case of a 23-year-old Somalian female on antiepileptic therapy presenting with intractable epilepsy. She was subsequently found to have pseudohypoparathyroidism type Ia. She had multiple reasons accounting for loss of seizure control, including worsening hypocalcemia from resistance to the parathyroid hormone; vitamin D deficiency, which could have resulted from lack of exposure to direct sunlight and her antiepileptic medication; and extensive calcium deposition in the brain due to pseudohypoparathyroidism. The patient was stabilized with intravenous therapy and oral calcium, vitamin D, and calcitriol. Her antiepileptic therapy was changed to a medication that did not interfere with vitamin D metabolism or contribute to worsening hypocalcemia.