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العنوان
Inborn Errors of Metabolism
in Children with Drug Resistant Epilepsy /
المؤلف
Elnemr, Samar Mohamed Elsayed.
هيئة الاعداد
باحث / سمـر محمد السيد النمـر
مشرف / حـــامـد محمــود شـتـلـة
مشرف / منـة الله أسامــة شطــا
مشرف / شيماء جاد راغب عبد الباقي
تاريخ النشر
2018.
عدد الصفحات
120.p:
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
طب الأطفال ، الفترة المحيطة بالولادة وصحة الطفل
تاريخ الإجازة
23/4/2018
مكان الإجازة
جامعة عين شمس - كلية الطب - Pediatrics
الفهرس
Only 14 pages are availabe for public view

from 120

from 120

Abstract

Background: Epilepsy is a common children’s neural disease that is largely controlled by anti-epileptic drugs. Nevertheless, children experience repeated attacks that develop into drug resistant epilepsy. Studies suggest that epilepsy fails to come quickly under control with medicines in about one-third of cases, but the true frequency depends upon the definition of uncontrolled ”intractable, refractory ”or” drug resistant epilepsy ”. Aim of the Work: To detect the inherited metabolic abnormalities in children with drug resistant epilepsy to provide early diagnosis and treatment. Patients and Methods: Descriptive study was conducted in neurology clinic-Ain Shams University pediatric hospital. It included 30 (12 male and 18 female) patients with intactable epilepsy in the period from February 2017 to December 2017. Patients with drug resistant epilepsy (failure of adequate trials of two tolerated and appropriately chosen and used AED schedules (whether as monotherapies or in combination) to achieve sustained seizure freedom). Even an individual with one seizure per year can be regarded as treatment resistant. Results: The study was conducted on 30 patients 12 males and 18 females, all patients presented with drug resistant epilepsy (failure of adequate trials of two tolerated and appropriately chosen and used AED schedules (whether as monotherapies or in combination) to achieve sustained seizure freedom). All included patients were subjected to full history talking and clinical examination and investigated by serum lactate, serum ammonia, arterial blood gases, Extended Metabolic Screen using tandem mass spectrometry and urinary organic acids. Conclusion: Background history and clinical presentation followed by stepwise laboratory investigation is necessary to identify metabolic disorders. Early and appropriate intervention can reduce neuro disability in many situations.