Intractable Rare Dis Res. 2020;9(3):166-170. (DOI: 10.5582/irdr.2020.03014)

Pseudohypoparathyroidism presenting with seizures: a case report and literature review

Najim M, Hammamy R, Ashour M, Imameldin A


Symptomatic hypocalcemia is frequently encountered in the Emergency Department, necessitating admission. It has a variety of underlying etiologies, with hypoparathyroidism and vitamin D deficiency being the most common. However, rarer etiologies such as pseudohypoparathyroidism, as was present in the current case, should not be overlooked. Reported here is a case of a young female patient presenting with generalized tonic clonic seizures. Electrocardiography revealed a prolonged QT interval which pointed towards a metabolic cause, and this was confirmed by laboratory results which indicated a low calcium level. A parathyroid pathology was obvious as the phosphate level was elevated. Pseudohypoparathyroidism, rather than hypoparathyroidism, was identified since the parathyroid hormone level was elevated. Other relevant differential diagnoses were excluded. The patient was treated with intravenous calcium initially and given regular oral calcium, calcitriol, and sevelamer.

KEYWORDS: hypocalcemia, pseudohypoparathyroidism, seizures

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