Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic.
OBJECTIVE
The typical signs and symptoms of congenital disorders of glycosylation (CDG) include dysmorphy, failure to thrive, and neurologic abnormalities. However, more and more children diagnosed at a young age are not dysmorphic and do not have neurologic involvement. The authors studied the gastrointestinal and other clinical manifestations of CDG type Ia, Ib, and Ic.


METHODS
As of January 2003, 17 children were identified with CDG at the authors' institution. The medical records of the patients were reviewed.


RESULTS
Five children had CDG Ia, three children CDG Ib, and nine children CDG Ic. Age at diagnosis ranged from 2 months to 15 years. Failure to thrive was present in 80% of patients with CDG Ia, in 66% of those with CDG Ib, and in 11% of those with CDG Ic. Five children had protein-losing enteropathy (two CDG Ia, two CDG Ib, and one CDG Ic). Hepatomegaly was present in 40% of patients with CDG Ia, in 66% of those with CDG Ib, and in 11% of those with CDG Ic. In CDG Ic, hepatomegaly was transient. In CDG Ia, histologic analysis of the liver showed swollen hepatocytes, steatosis, and fibrosis. In CDG Ib, hamartomatous collections of bile ducts were seen. In one patient with CDG Ib, the clinical picture was restricted to congenital hepatic fibrosis for more than a decade.


CONCLUSIONS
The study confirms the heterogeneity of the clinical picture in children with CDG type Ia, Ib, and Ic. Children with protein-losing enteropathy should be tested for CDG. Protein-losing enteropathy can be caused, not only by CDG Ia and Ib, but also by type Ic. Children with congenital hepatic fibrosis should be tested for CDG, even in the absence of other symptoms. In CDG Ib, histologic analysis of the liver showed hamartomatous collections of bile ducts (Meyenburg complex).
Damen
Gerard
G
Department of Pediatric Gastroenterology, Erasmus MC/Sophia Children Hospital, Rotterdam, the Netherlands. g.damen@erasmusmc.nl
de Klerk
Hans
H
Huijmans
Jan
J
den Hollander
Jan
J
Sinaasappel
Maarten
M
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000410:Alanine Transaminase / Q000097:blood; D001778:Blood Coagulation Disorders / Q000097:blood / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000145:classification / Q000150:complications / Q000235:genetics / Q000473:pathology; D004386:Duodenum / Q000473:pathology; D005183:Failure to Thrive / Q000453:epidemiology* / Q000209:etiology; D005260:Female; D005964:Glucosyltransferases / Q000172:deficiency; D006031:Glycosylation; D006529:Hepatomegaly / Q000453:epidemiology / Q000209:etiology; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology*; D008103:Liver Cirrhosis / Q000151:congenital / Q000453:epidemiology; D008297:Male; D008358:Mannose / Q000627:therapeutic use; D008359:Mannose-6-Phosphate Isomerase / Q000172:deficiency; D009426:Netherlands / Q000453:epidemiology; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency; D011504:Protein-Losing Enteropathies / Q000453:epidemiology* / Q000209:etiology; D012189:Retrospective Studies
D005964:Glucosyltransferases; C489364:glucosyltransferase I; D000410:Alanine Transaminase; D008359:Mannose-6-Phosphate Isomerase; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase; D008358:Mannose