Thesis (M.Sc.) -Cairo University, 2022.

Bibliography: pages 105-131.

Aims and Objectives: The aim of this study is to detect different clinical
presentations of neurological affection in Egyptian children with FMF
regarding their MEFV gene mutations and phenotype-genotype correlations.
Patients and methods: This study was enrolled on 300 FMF patients,
who were diagnosed according to new pediatric criteria for FMF. They
were subjected to full history, clinical examination, rheumatologic and
neurological evaluation.
Results: The mean age of the 142 male and 158 female patients was
10.35 years, ranging from 3–15 years old. The most common neurological
manifestations were headache in 45.3% of cases, 85.29% of them had a
recurrent nature and 14.7% had persistent daily headache. Eight percent of
the cases suffered from convulsions, 70.8% of them had febrile convulsions
and 29.1% had epilepsy. Paresethesia present in 25.3% of cases, while 9%
of cases complained from tremors and 11.3% of cases complained from
breath holding. 5% of cases complained from syncope. There is statistical
significant difference between headache and genotype as headache
present more with heterozygous ( P=0.026). There is statistical significant
difference between headache and disease severity as all severe cases
complained from persistent daily headache (ISSF) P=0.000. There is
correlation between headache and compliance to colchicine as 91.3% of
patients who did not complain from headache were compliant to
colchicine. Eighty percent of severe cases suffered from parethesia


p=0.010 and 86.6% patients who did not suffer from parethesia were
compliant to colchicine p=0.000. There is correlation between tremors
and disease severity as 80% of cases with severe disease suffered from
tremors p=0.000. Also 80% of severe cases suffer from breath holding
p=0.001.While 80% of cases suffered from syncope was with moderate
disease, p=0.017.
Conclusion: The prevalence of epilepsy and febrile seizures among FMF
children was significantly higher than the general population. FMF
patients with severe disease according to ISSF had significant frequency
of headache, paresthesia, breath-holding, syncope and tremors.

حهذه دراسة مقطعية تحليلية اشتملت على 300 طفل تم تشخيصهم بمرض حمى البحر المتوسط وفقًا لمعايير جديدة لطب الأطفال لمرض حمى البحر المتوسط ومتابعتهم في عيادة الروماتيزم ، مستشفى الأطفال ، جامعة القاهرة على مدى ستة أشهر تبدأ من أبريل 2021 حتى أكتوبر 2021. لهدف من هذه الدراسة هو الكشف عن العروض السريرية المختلفة للعاطفة العصبية لدى الأطفال المصريين الذين يعانون من مرض الحمى الروماتيزمية فيما يتعلق بطفرات جينية MEFV وارتباطات النمط الظاهري بين النمط الجيني.

أظهرت المظاهر العصبية بين الحالات المدروسة أن الصداع هو أكثر الأعراض شيوعاً في 45.33٪ حالة ، 85.2٪ منهم ذو طبيعة متكررة و 14.7٪ منهم يعانون من صداع يومي مستمر. بينما اشتكى 4.7٪ من الحالات من الصداع النصفي. 8٪ من الحالات عانى من تشنجات ، و 70.8٪ منهم يعانون من تشنجات حموية و 29.2٪ يعانون من الصرع. 25.3٪ من الحالات اشتكى من تنميل الاطراف ، بينما 9٪ من الحالات اشتكى من الرعشة و 11.3٪ من الحالات اشتكى من حبس النفس. 5٪ من الحالات شكا من الإغماء.
تظهر دراستنا أن الصداع والرنح يظهران بشكل أكبر مع طفرة متغايرة الزيجوت

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Text in English and abstract in Arabic & English.