کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3037755 1184429 2011 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination
چکیده انگلیسی

A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months. Electroencephalograms revealed hypsarrhythmia, and magnetic resonance imaging identified delayed myelination and a hypoplastic corpus callosum. Various antiepileptic treatments, including adrenocorticotropic hormone therapy, were ineffective, although transient seizure control was achieved by a ketogenic diet and clorazepate dipotassium. However, seizures with epileptic foci at the bilateral posterior temporal areas re-aggravated and remained intractable; severe psychomotor delay persisted. This case indicated that infantile spasms in CFC syndrome can be difficult to control and may be accompanied by severe psychomotor retardation and abnormal myelination.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain and Development - Volume 33, Issue 2, February 2011, Pages 166–169
نویسندگان
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