Congenital hypoparathyroidism misdiagnosed as infantile seizure

Abstract

The occurrence of seizure in children is a common neurologic dysfunction and finding the underlying aetiology is critically important as it determines the prognosis and outcome of the seizure and also guides therapeutic strategies. Parathyroid hormone (PTH) plays key role in the complex controlling mechanisms regulating calcium and phosphate balance. An insufficient circulating PTH level is a common cause of hypocalcaemia. A 3-months-old infant was referred to our endocrine unit with recurrent seizures, body stiffness, noisy breathing and bilateral cataract. He was previously been diagnosed as epilepsy in a syndromic child. Biochemical investigation revealed hypoparathyroidism, brain MRI was suggestive of decrease myelination for age, EEG revealed normal study, and a diagnosis of congenital hypoparathyroidism was confirmed. After calcium and vitamin D replacement, the infant improved and was seizure free off antiepileptic therapy. This case therefore explores an unusual case of seizure disorder. It further highlights the fact that not all epilepsies are cryptogenic or genetic epilepsy, therefore treatable acute symptomatic etiologies should be adequately searched.