Paroxysmal dyskinesia and epilepsy in pseudohypoparathyroidism

Abstract

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Characterizing Cerebral Imaging and Electroclinical Features of Five Pseudohypoparathyroidism Cases Presenting with Epileptic Seizures

“…In clinical practice, only approximately 23% of PHP patients were subjected to ASM treatment according to a large cohort study with the Chinese population [4]. Meanwhile, we also noticed some case reports showing that the seizures were controlled after normalization of serum calcium [12,15]. These collective results suggested that ASM treatment could not be necessary for PHP patients with infrequent seizures.…”

“…While seizures have been defined to be clinically relevant to PHP and calcification of basal gan-glia (BG), the odds for the most common neurological disturbances, including seizures, were similar in patients with and without BG calcification [11]. Some previous works have linked seizures to the decreasing GABAergic inhibition [12], while others have linked calcification to the seizure [13]. To investigate this issue, we retrospectively analyzed the clinical symptoms, biochemical imaging by magnetic resonance imaging (MRI) and computed tomography (CT) tests, and electroencephalogram (EEG) manifestations of 5 PHP patients with seizures to examine these conditions' characteristics and potentially shared etiology.…”

Paroxysmal Kinesigenic Dyskinesia Secondary to Pseudohypoparathyroidism Responding to Correction of Calcium

“…Only a few cases have been published in the literature showing an association of PKD and PHP (Table 1). In all of the previous cases reported in the literature, the age of presentation was between 10 and 27 years, with equal distribution of both sexes 2–8 …”

“…In all of the previous cases reported in the literature, the age of presentation was between 10 and 27 years, with equal distribution of both sexes. [2][3][4][5][6][7][8] Basal ganglia calcifications are common in PHP, but why basal ganglia are susceptible for calcification is still not known. The causal association of basal ganglia calcification and paroxysmal dyskinesia is also not well understood.…”

Case Report: A Case of Concomitant Paroxysmal Kinesigenic Dyskinesia and Epilepsy: Can We Treat Two Birds With One Stone?

“…Treatment failure was mainly reported in homozygous or compound heterozygous PRRT2 mutation carriers (11,12). Importantly, effective treatments to control both PKD and epilepsy remain undetermined, as shown in Table 1 (3)(4)(5)(13)(14)(15)(16)(17)(18)(19). Allergic reactions to certain AEDs like carbamazepine or oxcarbazepine further limited their use in such patients.…”