کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3037735 1184428 2011 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome
چکیده انگلیسی

A 3-months-old boy presented with partial seizures that soon evolved into infantile spasms. Magnetic resonance imaging revealed bilateral perisylvian polymicrogyria with right-sided predominance. ACTH therapy successfully controlled epilepsy and electroencephalograms were normalized. Conventional G-banded chromosomal analysis was performed due to his distinctive features and a derivative chromosome 1 derived from parental balanced translocation with a karyoptype of 46,XY,der(1)t(1;4)(p36.23;q35) was detected. Fluorescent in situ hybridization analysis confirmed the deleted region of 1p36 as large as 8.6 Mb. This is the first delineation of concurrent complications of infantile spasms and polymicrogyria in patient with 1p36 deletion. 1p36 deletion syndrome should be broadly recognized as a differential diagnosis of regional polymicrogyria and/or infantile spasms.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain and Development - Volume 33, Issue 5, May 2011, Pages 437–441
نویسندگان
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