A Case with Congenital Disorder of Glycosylation with COG5 Gene Mutation: A Case Report from the Tertiary Care Center of Bangladesh

Abstract Congenital disorders of glycosylation (CDG) is a group of rare, clinically and genetically heterogeneous, multisystem disorders, predominantly affecting the nervous system. There is deficient glycosylation of glycol conjugates along with deficient synthesis of glycosyl phosphatidyl inositol anchors. Most of the disorders are autosomal recessive. CDG encompass many diseases with various presentations, and they may involve one or more than one systems. We report a case, a 20-month-old girl, the second issue born out of a consanguineous marriage. She had developmental delay (motor, speech, and cognition), ataxia, failure to thrive, microcephaly, hypotonia, seizure, behavioral abnormality, and stereotype hand movement. The genetic study showed mutation of Oligomeric Golgi Complex 5 gene. On the basis of the clinical features and genetic study, we diagnosed the case with CDG.