Pediatr. praxi. 2009;10(5):329-330
Girl with congenital disorder of glycosylation - case report
- Klinika dětského a dorostového lékařství 1. LF UK a VFN, Praha
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 diagnosed in our patient. CDG syndrome belongs to the differential diagnosis of each multisystemic disease. The diagnostics
is available at our department.
Keywords: disorders of glycosylation, CDG Ia syndrome, psychomotor delay.
Published: December 1, 2009 Show citation
References
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