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پروپیونیک اسیدمی: یافته های تصویربرداری و تشخیص در بیماریهای نورومتابولیک

کریم زاده, پروانه ، جعفری, نرجس ، احمدآبادی, فرزاد ، جبه داری, ساینا ، تقدیری, محمدمهدی ، شربت دارعلایی, محمد ، غفرانی, محمد ، تنکابنی, سید حسن (1392) پروپیونیک اسیدمی: یافته های تصویربرداری و تشخیص در بیماریهای نورومتابولیک. Iranian journal of child neurology ــ 8 (1). ص.ص.61-58. شاپا 1735-4668

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آدرس اینترنتی رسمی : http://journals.sbmu.ac.ir/index.php/ijcn/article/...


عنوان انگليسی

Propionic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder

خلاصه انگلیسی

Objective Propionic acidemia is one of the rare congenital neurometabolic disorders with autosomal recessive inheritance. This disorder is caused by a defect in the propionyl-CoA carboxylase enzyme and can be presented with life-threatening ketoacidosis, lethargy, failure to thrive, and developmental delay. Materials & Methods The patients diagnosed as having propionic acidemia in Neurology Department of Mofid Children’s Hospital in Tehran, Iran, between 2002 and 2012 were include in our study. This disorder was confirmed by clinical manifestations, neuroimaging findings, and neurometabolic assessment in the reference laboratory in Germany. Our study was conducted to define the sex, age, gender, past medical history, developmental status, clinical findings, and neuroimaging manifestations in 10 patients with propionic acidemia. Results Seventy percent of patients were offspring of consanguineous marriages. In this study, only one patient had microcephaly at birth, but at detection time, 30% of patients had head circumference and weight below the 3rd percentile. The patients were followed for approximately 5 years and this follow-up showed that the patients with early diagnosis had a more favorable clinical response. Neuroimaging findings included brain atrophy, white matter and globus pallidus involvement. Conclusion Finally we suggest that early diagnosis and treatment have an important role in the prevention of disease progression.

نوع سند :مقاله
زبان سند : انگلیسی
نویسنده اول :پروانه کریم زاده
نویسنده :فرزاد احمدآبادی
نویسنده مسئول :سید حسن تنکابنی
ضریب تاثیر و نمایه مجلات:Indexed in: PubMed/Pubmed Central , EMBASE , Scopus , ISC(Islamic World Science Citation Center) , CABI(Bibliographic database) , IMEMR (Index Medicus for Eastern Mediterranean Region) , Index Copernicus , EBSCO (CINAHL) , Proquest (CSA: In Neuroscience Database) , DOAJ , Google scholar , SID(Scientific Information Database) Iranmedex , Magiran , IranJournal (RiceSt
کلیدواژه ها (انگلیسی):Propionic acidemia; Neurometabolic disorder; Developmental delay; Early detection
موضوعات :WL سیستم عصبی
WS بیماریهای کودکان
بخش های دانشگاهی :دانشكده پزشكي > گروه اطفال ، پزشکی اجتماعی
کد شناسایی :5283
ارائه شده توسط : دکتر فرزاد احمدآبادی
ارائه شده در تاریخ :15 اسفند 1392 12:58
آخرین تغییر :23 خرداد 1397 12:02

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