how to cite this article: mozafari h, taghikhani m, khatami sh, alaei mr, vaisi-raygani a, rahimi z. chitotriosidase activity and gene polymorphism in iranian patients with gaucher disease and sibling carriers. iran j child neurol. autumn 2016; 10(4):62-70. abstract objective chitotriosidase (ct) activity is a useful biomarker for diagnosis and monitoring of gaucher disease (gd). its applicatio...

duplication of inferior vena cava (ivc) is a rare fi nding in radiologic studies and its coincidence with thrombosis is even rarer. here we described a rare case with duplication of ivc and symptomatic venous thrombosis of her lower extrimity.

background :according to numerous studies, fms-like tyrosine kinase 3, internal tandem duplication, and the d835 mutation are associated with a poor prognostic clinical outcome in acute myeloid leukemia patients. detection of the fms-like tyrosine kinase 3 mutation in patients who present with normal karyotype acute myeloid leukemia helps in both the understanding of the disease and the treatme...

An anatomical variant of the extrahepatic bile duct is presented, as true gallbladder duplication. Congenital malformations are categorized into positional and morphologic abnormalities, duplication being included in latter.The accepted classification Boyden's. Based on relationship cystic with vesicular body, he described “vesica fellea divisa” (bilobed vesicle that drains a single shares comm...

gastric duplication cysts comprise 2-7% of gastrointestinal duplications, rare congenital malformations that can be present at almost any part of the alimentary tract. they mostly present with gastrointestinal obstruction symptoms, ulceration, and painless hemorrhage. symptoms include nausea, vomiting, and fullness sensation. gastric duplications are mostly cystic in shape. herein, we present a...

 Abstract A 2.5 year old girl is presented with both hands constriction bands leading to distal amputations and the rare deformity of shoulder duplication in the right side accompanying constriction skin marking over the affected shoulder. The cephalomedial scapula articulated with the clavicle and the caudolateral scapula articulated with humeral head. The most important physical finding which...