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Congenital disorder of glycosylation type II: Case report
(Bayrakol Medical Publisher, 2021) Durmaz, Sevda Canbay; Ozbag, Davut; Solgun, Selma; Canbay, Ali; Tanriverdi, Cem Gurkan
Congenital disorder of glycosylation (CDG) is an inherited metabolic disease characterized by defects in the synthesis of glycan groups of glycoproteins and glycolipids. In this study, we present the clinical, pathological and physical evaluation of a 10-year-old female patient who is still alive and has been diagnosed with CDG type 2, accompanied by musculoskeletal, heart, liver, lung involvement, vision and hearing problems, dysmorphic facial findings, as well as the affected central nerve system. The necessary measures were taken considering all possibilities and the fact that she did not have a clear diagnosis at a very early age and was diagnosed after a comprehensive evaluation. In particular, the physical treatment process, which started at a very early age, substantially prevented the delayed musculoskeletal, respiratory and circulatory problems by extending over a period of time. In this context, we think that our case is rare in the literature.