title: Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome.
abstract: The carbohydrate-deficient glycoprotein (CDG) syndrome in its most severe form (neonatal olivopontocerebellar atrophy) is a life-threatening multisystem disease. We report a neonate who was referred for cardiological assessment because of respiratory distress, a murmur and episodes of desaturation. After initial spontaneous improvement he presented at 9 weeks with evidence of a severe hypertrophic obstructive cardiomyopathy (HOCM). The diagnosis of CDG syndrome was suggested by the characteristic dysmorphic features, hypotonia, visual inattention and severe failure to thrive; it was confirmed by electrophoresis of serum transferrin. HOCM can be a feature of the CDG syndrome, in addition to the (previously reported) pericardial effusions.
authors.affiliation: Division of Biochemistry and Metabolism, Institute of Child Health, London, UK.
authors.forename: P T
authors.initials: PT
authors.lastname: Clayton
authors.forename: B G
authors.initials: BG
authors.lastname: Winchester
authors.forename: G
authors.initials: G
authors.lastname: Keir
mesh_terms: D001797:Blood Protein Electrophoresis; D001835:Body Weight; D001921:Brain / Q000000981:diagnostic imaging; D002239:Carbohydrate Metabolism, Inborn Errors / Q000097:blood / Q000150:complications* / Q000000981:diagnostic imaging; D006332:Cardiomegaly / Q000209:etiology; D002312:Cardiomyopathy, Hypertrophic / Q000097:blood / Q000000981:diagnostic imaging / Q000209:etiology*; D004569:Electroencephalography; D006023:Glycoproteins / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009849:Olivopontocerebellar Atrophies / Q000097:blood / Q000150:complications* / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed
chemical_list: D006023:Glycoproteins