Photosensitive Epilepsy and Polycystic Ovary Syndrome as Manifestations of MERRF
المؤلف
المصدر
Case Reports in Neurological Medicine
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-4، 4ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-09-29
دولة النشر
مصر
عدد الصفحات
4
التخصصات الرئيسية
الملخص EN
Objectives.
Although endocrinologic involvement and epilepsy are frequent features of myoclonic epilepsy with ragged-red fibers (MERRF), polycystic ovary syndrome (PCOS) and photosensitive epilepsy have not been reported.
Case Report.
A 32-year-old female was diagnosed with MERRF at age 19 y upon presence of the four canonical features and the variant m.8344A > G in MT-TK (tRNA (Lys)) (blood heteroplasmy rate: 50%).
She experienced recurrent photosensitive focal and generalised seizures since age 19 y, which could be triggered by flickering light or by looking at small stones, leaves, or dirty snow on the ground.
Since the last 42 months, she was seizure-free upon levetiracetam (4000 mg/d), clonazepam (1.5 mg/d), and topiramate (25 mg/d).
Additionally, she suffered from secondary amenorrhoea since adolescence.
She was married between ages 19 y and 25 y but did not get pregnant.
PCOS was diagnosed and treated with desogestrel plus estradiol.
Nonetheless, the course was progressive, particularly with regard to ataxia, myocloni, and myopathy.
Conclusions.
The phenotypic spectrum of MERRF is broader than anticipated and may additionally include PCOS and photosensitive epilepsy.
PCOS in MERRF may respond to hormone substitution and photosensitive epilepsy to levetiracetam, clonazepam, and topiramate.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Finsterer, Josef. 2020. Photosensitive Epilepsy and Polycystic Ovary Syndrome as Manifestations of MERRF. Case Reports in Neurological Medicine،Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1149006
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Finsterer, Josef. Photosensitive Epilepsy and Polycystic Ovary Syndrome as Manifestations of MERRF. Case Reports in Neurological Medicine No. 2020 (2020), pp.1-4.
https://search.emarefa.net/detail/BIM-1149006
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Finsterer, Josef. Photosensitive Epilepsy and Polycystic Ovary Syndrome as Manifestations of MERRF. Case Reports in Neurological Medicine. 2020. Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1149006
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1149006
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر