Clinical characteristics of a case of developmental and epileptic encephalopathy caused by PPP3CA gene mutation and literature review
10.3760/cma.j.cn113694-20220507-00366
- VernacularTitle:PPP3CA基因突变致发育性癫痫性脑病1例临床特点并文献复习
- Author:
Xin LI
1
;
Lingyu PANG
;
Yakun DU
;
Suzhen SUN
Author Information
1. 河北省儿童医院神经内一科 河北省小儿癫痫与神经疾病重点实验室，石家庄050031
- Keywords:
PPP3CA gene;
Developmental and epileptic encephalopathy;
Calcineurin;
Case reports
- From:
Chinese Journal of Neurology
2023;56(2):158-163
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To improve clinicians′ understanding of developmental and epileptic encephalopathy (DEE) caused by PPP3CA gene mutation. Methods:Clinical data of a patient with DEE diagnosed in the First Department of Neurology, Hebei Children′s Hospital in September 2018 were collected. The whole-exome sequencing of the proband′s family was performed, and the characteristics of gene mutation were analyzed. Literature review was carried out based on the reported cases related to PPP3CA gene. Results:The proband, a 3 months and 20 days old girl, was admitted to the hospital with a history of paroxysmal confusion with extremities shaking for 2 days. The clinical manifestations included frequent epilepsy seizures and hypoevolutism. Brain magnetic resonance imaging showed that the bilateral frontotemporal extracerebral space was slightly wider. The video electroencephalography showed hyperarrhythmia and a cluster of spastic seizures. Whole exome sequencing of the family revealed that the proband had a heterozygous de novo frameshift truncating mutation in the PPP3CA gene: c.1255-1256delAG (p.Ser419Cysfs*31). From the establishment of the database to May 2022, 8 foreign literatures and 1 Chinese literature were retrieved, and a total of 21 children with PPP3CA gene mutation were reported, with clinical developmental delay, cognitive dysfunction and abnormal electroencephalography activity. Conclusions:The frameshift truncating mutation of the PPP3CA gene (c.1255-1256delAG) is the hereditary etiology of this patient. For cases of frequent seizures with poor efficacy of antiepileptic drugs, and developmental delay, genetic testing should be performed to confirm diagnosis and treatment.
