Abstracts: Chromosomal abnormalities in patients suffering from epilepsy

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Abstract;
Objective ;The object of this study to detect the chromosomal abnormalities in patients suffering from epilepsy through chromosomal study , also to evaluate the correlation between these results with physical and intellectual disabilities. Patients and methods The present study conducted on 50 epileptic pediatric patients, 29 males and 21 females their ages ranged between 6 months and 11 years . Patients were selected from pediatric neurology out-clinic in El- Minia University Hospital , in the period from December 2002 to August 2003. All patients were diagnosed as having epilepsy based on the detailed clinical symptomatology of seizures. The patients were subjected to careful history taking, Complete general and neurological examination, Electroencephalography (EEG),Computerized tomography on brain (C.T.) and Chromosomal study by studying G- banded to facilitate the identification of structural abnormalities . 50 cases of pediatric epileptic patients that were divided in to 2 groups: Group 1 included 20 epileptic patient with normal physical and intellectual developments. Group 2 included 30 epileptic patient with intellectual disabilities and /or physical abnormalities. RESULST ; There were 4 cases show chromosomal abnormalities among the group 2 of patients .1st patient karyotyping was distal deletion of the long arm of chromosome 1 . 2nd patient karyotyping shows ring chromosome 20. 3rd &4th patients karyotyping analysis show distal deletion of the long arm of chromosome 6.
Conclusion; We concluded that epileptic patients not in need for chromosomal study, karyotype analysis should be performed in a child or adulthood complained from seizures with dysmorphic features and/ or intellectual disability.

author: Samir Tamer Abdullah*, Ibrahim Mohamed Marie* , Essam Ahmed El Gendi** and Ashraf Anter Mohamed*

address:
Dr samir Tamer Abdullah ,departement of pediatrics Al-MINYA university hospital, AL-MINYA, EGYPT.





Note: Neurology