A case report of PRRT2 mutation-associated familial convulsions with paroxysmal choreoathetosis syndrome

Abstract

Diagnostics and differential diagnostics of inherited metabolic diseases in children have still been complicated. The diagnostic difficulties are due to the fact that the diseases are orphan and their recognition is not always timely. Objective. To improve the diagnosis of familial convulsions with paroxysmal choreoathetosis syndrome caused by the PRRT2 gene mutation based on a comparison with glucose transporter type I deficiency syndrome (Glut1 Deficiency Syndrome). Materials and methods. The clinical case of PRRT2 mutation-associated familial convulsions with paroxysmal choreoathetosis syndrome was recognized based on own observations in the process of differential diagnostics with the Glut1 Deficiency syndrome. The patient received inpatient treatment in the Kyiv City Pediatric Clinical Hospital No 1. Results. The main clinical symptoms of PRRT2 mutation-associated familial convulsions with paroxysmal choreoathetosis syndrome and clinically similar diseases, in particular Glut1 Deficiency syndrome, include attacks of seizures, movement disorders: paresis, plegia, paroxysmal dyskinesias, ballismus, tremor, athetosis, dystonia, and ataxia. It has been shown that attacks of seizures, paroxysmal choreoathetosis, hypoglycemia and hypoglycorrhachia episodes are common for these syndromes. The importance of anamnestic data analysis, results of clinical and genetic testing for differential diagnostics between similar inherited syndromes has been established. Conclusions. Differential diagnostics of movement disorders accompanied by attacks of seizures in patients includes clarifying the etiology. Therefore, additional paraclinical methods for diagnosis identification have to be prescribed after child’s clinical examination. The differential diagnosis between PRRT2 mutation-associated familial convulsions with paroxysmal choreoathetosis syndrome and Glut1 Deficiency syndrome is particularly relevant in case of hypoglycemia and hypoglycorrhachia. Anamnestic data analysis, clinic examination and genetic results assessment are necessary to confirm a correct diagnosis.

Keywords

• seizures
• glucose transporter type i
• children