てんかんジャーナル

Background: Early infantile epileptic encephalopathy 75 (EIEE75) is a very rare form of epileptic encephalopathy due to mitochondrial disease, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Early infantile epileptic encephalopathy 75 is an autosomal recessive form characterized by onset of severe refractory seizures in the first months of life. The aim of the study is to compare our clinical case with previous reported cases in aspect of clinical features, MRI finding and genetic finding, and to highlights the importance of WES analysis for the diagnosis of rare disease.

Materials and Methods: The parents of our patient gave their written consent to carry out the investigations reported. One year old child product of consanguineous marriage presented at age of 5-months due to global developmental delay and epilepsy, MRI show diffuse brain atrophy. Collecting data from all reported cases due to PARS2 gene mutation leading to EIEE 75 and comparing study with our Libyan case was done.

Results: WES identified the homozygous variant c. 499G >A p(Ala167Thr) in PARS2 gene (OMIM:618437). Both parents carry the same gene in heterozygous state. As we comparing our case and the previous reported 8 cases, all are identical phenotypically, put the gene of our patient is a new mutation in homozygous state.

Conclusion: The EIEE 75 is very rare disease, there are only 8 reported cases worldwide, the disease may be under estimated, farther researches are indicated to highlights all area of it.