Publication at First Faculty of Medicine |
2009
Abstract
2-year old girl with craniofacial dysmorphy, strabismus, inverted nipples, unusual fat pads, musle hypotonia and psychomotor delay is presented in this work. Laboratory analyses showed hepatopathy and koagulopathy.
Systemic involvement with typical finding in physical examination supported the suspicion on congenital disorder of glycosylation - CDG syndrome. The most common type CDG Ia syndrome was diagnosted in our patient.
CDG syndrome belongs to the differential diagnosis of each multisystemic disease. The diagnostics is available at our department.