Case Report: Diagnostic challenge between epileptic seizure and tetany in Albright hereditary osteodystrophy

Albright hereditary osteodystrophy (AHO) is an epigenetically inherited condition resulting in end-organ resistance to parathyroid hormone (PTH) and consequent hypocalcemia, leading to tetany and seizures. AHO-driven calcification of the basal ganglia can often be visualized on computed tomography (CT).

We report the case of a 36-year-old patient with AHO presenting with epileptic seizure vs. tetany, with an analysis of non-contrast head CT. An adult patient presented with bilateral clenching of fists, progressing to motor weakness, atonic loss of upright posture, and diffuse clonic shaking. The patient's history included alcohol use disorder with generalized tonic-clonic seizures on withdrawal. A physical examination revealed short stature, round facies, short fourth metacarpal bones, and subcutaneous calcifications on the right extremities. Laboratory tests showed leukocytosis with neutrophilic predominance, hypokalemia, hypocalcemia, hyperphosphatemia, and elevated PTH. A non-contrast head CT showed marked bilateral basal ganglia calcifications. An EEG showed generalized slowing with no epileptiform activity. This presentation is consistent with tetany secondary to poor medication adherence in the setting of AHO.

Tetany in the setting of AHO may mimic epileptic seizure because of hypocalcemia causing clonus. Home medication adherence, early disease diagnosis, and prompt electrolyte correction are critical to the management of AHO.