|
|
Iranian Journal of Neonatology، جلد ۷، شماره ۱، صفحات ۷۵-۷۹
|
|
|
| عنوان فارسی |
|
|
| چکیده فارسی مقاله |
|
|
| کلیدواژه‌های فارسی مقاله |
|
|
| عنوان انگلیسی |
X-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report |
|
| چکیده انگلیسی مقاله |
Background: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. XLAG is responsible for a severe neurological disorder of neonatal onset in boys. A gyration defect consisting of anterior pachygyria and posterior agyria with a moderately thickened brain cortex, dysplastic basal ganglia, and complete agenesis of the corpus callosum are consistently found on magnetic resonance imaging (MRI). Females related to affected boys may have epilepsy and mental retardation or display agenesis of corpus collosum on MRI. These findings can indicate an X-linked semi-dominant inheritance. Case presentation: The patient was a one-day-old term neonate admitted to our neonatal intensive care unit due to refractory seizure. He was the second child of the family, born to non-consanguineous and healthy parents. His midface was slightly hypoplastic with long and smooth philtrum; the neonate had ambiguous genitalia, as well. Hormonal investigation demonstrated elevated serum 17OH-progesterone, dehydroepiandrosterone sulfate, and testosterone levels. Chromosomal analysis showed a normal male karyotype (46, XY). Brain computed tomography scan showed a typical pattern of lissencephaly with a posterior-to-anterior gradient of severity consisting of frontal pachygyria, posterior agyria, and absence of corpus collosum |
|
| کلیدواژه‌های انگلیسی مقاله |
Ambiguous genitalia, Corpus callosum, Lissencephaly, Seizure |
|
| نویسندگان مقاله |
علیرضا جشنی مطلق | alireza jashni motlagh
assistant professor, school of medical sciences, alborz university of medical sciences, karaj, iran
یداله زاهدپاشا | yadollah zahedpasha
professor, school of medical sciences, babol university of medical sciences, babol, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی بابل (Babol university of medical sciences)
موسی احمدپور کچو | mousa ahmadpourkacho
associate professor, school of medical sciences, babol university of medical sciences, babol, iran
سازمان اصلی تایید شده: دانشگاه علوم پزشکی بابل (Babol university of medical sciences)
|
|
| نشانی اینترنتی |
http://ijn.mums.ac.ir/article_6671.html |
| فایل مقاله |
فایلی برای مقاله ذخیره نشده است |
| کد مقاله (doi) |
|
| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
|
| نوع مقاله منتشر شده |
گزارش موارد نادر |
|
|
|
برگشت به:
صفحه اول پایگاه |
نسخه مرتبط |
نشریه مرتبط |
فهرست نشریات
|