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Carbohydrate‐deficient glycoprotein syndrome 1b: A new answer to an old diagnostic dilemma
Author(s) -
Kelly DF,
Boneh A,
Pitsch S,
Gold H,
Fietz M,
Nelson P,
Oliver MR
Publication year - 2001
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1046/j.1440-1754.2001.00671.x
Subject(s) - medicine , glycoprotein , dilemma , biochemistry , epistemology , philosophy , chemistry
: A patient with carbohydrate‐deficient glycoprotein syndrome type 1b (CDGS1b) is reported. The patient presented at 5 months of age with failure to thrive, prolonged diarrhoea, hepatomegaly and elevated serum liver transaminases. Liver biopsy showed steatosis. A low serum albumin and elevated serum liver transaminases persisted throughout childhood during which he had repeated infectious illnesses. From the age of 10 years he had oesophageal and duodenal ulceration together with recurrent bacterial cholangitis. Liver biopsy demonstrated hepatic fibrosis. CDGS1b was suspected, supported by the finding of a protein‐losing enteropathy and finally confirmed by showing a reduced phosphomannoseisomerase activity. This case illustrates a rare condition with a wide range of presentations.