Paroxysmal dyskinesia and epilepsy in pseudohypoparathyroidism.

ABSTRACT:

Background

Paroxysmal kinesigenic dyskinesia (PKD) and epilepsy share common pathogenic mechanisms but their pathophysiological connections remain unknown. Our study reports an individual with both disorders as a consequence of pseudohypoparathyroidism (PHP). This observation suggests potential shared pathophysiological mechanisms between PKD and epilepsy.

Methods

We report the case of a 15-year-old male with pre-diagnosed PKD and symptomatic epilepsy. We recorded the symptoms and carried out comprehensive biochemical, genetic, imaging, and EEG analyses to examine the characteristics and potentially shared etiology of these conditions.

Results

In this case, the patient's PKD and symptomatic epilepsy were secondary to pseudohypoparathyroidism (PHP). The patient had a s

SUBMITTER: Zhang C 

PROVIDER: S-EPMC7549567 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature