caa a22 4500 469044152 CHVBK 20180323132819.0 cr unu---uuuuu 170328e19921101xx s 000 0 eng 10.1007/BF01800221 doi (NATIONALLICENCE)springer-10.1007/BF01800221 Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome [Elektronische Daten] [P. Clayton, B. Winchester, G. Keir] Summary: 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. SSIEM and Kluwer Academic Publishers, 1992 Clayton P. Division of Biochemistry and Metabolism, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London aut Winchester B. Division of Biochemistry and Metabolism, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London aut Keir G. Institute of Neurology, WC1, London, UK aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/6(1992-11-01), 857-861 0141-8955 15:6<857 1992 15 10545 https://doi.org/10.1007/BF01800221 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01800221 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Clayton P. Division of Biochemistry and Metabolism, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London aut NATIONALLICENCE 700 1- Winchester B. Division of Biochemistry and Metabolism, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London aut NATIONALLICENCE 700 1- Keir G. Institute of Neurology, WC1, London, UK aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/6(1992-11-01), 857-861 0141-8955 15:6<857 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer