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العنوان
Diagnosis of Nonatal Seizures of
Inherited Metabolic origin/
الناشر
Zenab Abdel-Samie Abdel-Wadood Abdel-Rahman،
المؤلف
Zenab Abdel-Samie Abdel-Wadood ،Abdel-Rahman
هيئة الاعداد
باحث / Zenab Abdel-Samie Abdel-Wadood ،Abdel-Rahman
مشرف / Sawsan Abdel-Hady ،Hassan.
مشرف / Hanna Mohamed ،Abu Elghar.
مشرف / Fatma Ahmed ،El-Mougy.
تاريخ النشر
2010.
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
طب الأطفال ، الفترة المحيطة بالولادة وصحة الطفل
تاريخ الإجازة
1/1/2009
مكان الإجازة
جامعة القاهرة - كلية الطب - طب الاطفال
الفهرس
Only 14 pages are availabe for public view

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Abstract

Background: Neonatal seizures are a common symptom in a great
number of metabolic disorders, so it is important to entertain the
possibility of an IMD in any neonate presenting with seizures early and
diagnose it rapidly, allowing the opportunity for effective intervention as
there are many effective treatments, which greatly enhance the chance of
a better outcome.
Objective: To establish the prevalence of inherited metabolic diseases
among babies diagnosed with neonatal convulsions at NICU Cairo
University, for early detection, better diagnosis and proper management,
thus increasing awareness of these diseases as a cause.
Methodology: The present study included 24 neonates presenting with
seizures admitted at NICU Cairo University hospital during the period of
three months from 1st June to 31th August 2009.Full history, thorough
examination , selective metabolic screening and basic metabolic
investigations for evaluation were done.
Results: Detection of a significant rate (16.7%) with inborn error of
metabolism. 4 babies had metabolic derangements, Biochemical genetic
diagnosis could be formulated in only 2 neonates: Propionic Acidemia,
and Urea Cycle Defect.
Key words: Metabolism-Inherited- Inborn errors-Neonatal Seizures-
Screening