Journal of Inherited Metabolic Disease

, Volume 31, Issue 3, pp 450–456

Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps

  • É. Morava
  • H. Wosik
  • J. Kárteszi
  • M. Guillard
  • M. Adamowicz
  • J. Sykut-Cegielska
  • K. Hadzsiev
  • R. A. Wevers
  • D. J. Lefeber
Original Article

DOI: 10.1007/s10545-008-0822-0

Cite this article as:
Morava, É., Wosik, H., Kárteszi, J. et al. J Inherit Metab Dis (2008) 31: 450. doi:10.1007/s10545-008-0822-0

Summary

Congenital disorder of glycosylation type I (CDG I) represent a rapidly growing group of inherited multisystem disorders with 13 genetically established subtypes (CDG Ia to CDG Im), and a high number of biochemically unresolved cases (CDG Ix). Further diagnostic effort and prognosis counselling are very challenging in these children. In the current study, we reviewed the clinical records of 10 CDG Ix patients and compared the data with 13 CDG Ix patients published in the literature in search for specific symptoms to create clinical subgroups. The most frequent findings were rather nonspecific, including developmental delay and axial hypotonia. Several features were found that are uncommon in CDG syndrome, such as elevated creatine kinase or arthrogryposis. Distinct ophthalmological abnormalities were observed including optic nerve atrophy, cataract and glaucoma. Two subgroups could be established: one with a pure neurological presentation and the other with a neurological-multivisceral form. The first group had a significantly better prognosis. The unique presentation of microcephaly, seizures, ascites, hepatomegaly, nephrotic syndrome and severe developmental delay was observed in one child diagnosed with CDG Ik. Establishing clinical subgroups and increasing the number of patients within the subgroups may lead the way towards the genetic defect in children with a so far unsolved type of the congenital disorders of glycosylation. Raising awareness for less common, non-CDG specific clinical features such as congenital joint contractures, movement disorders or ophthalmological anomalies will encourage clinicians to think of CDG in its more unusual presentation. Clinical grouping also helps to determine the prognosis and provide better counselling for the families.

Copyright information

© Springer Science+Business Media B.V. 2008

Authors and Affiliations

  • É. Morava
    • 1
    • 5
  • H. Wosik
    • 2
  • J. Kárteszi
    • 3
  • M. Guillard
    • 1
  • M. Adamowicz
    • 4
  • J. Sykut-Cegielska
    • 4
  • K. Hadzsiev
    • 3
  • R. A. Wevers
    • 1
  • D. J. Lefeber
    • 1
  1. 1.Laboratory of Paediatrics and Neurology and the Department of PaediatricsRadboud University Nijmegen Medical CentreNijmegenThe Netherlands
  2. 2.Medical University in LodzLodzPoland
  3. 3.Department of Medical Genetics and Child DevelopmentUniversity of PécsPécsHungary
  4. 4.Department of PaediatricsUniversity of WarsawWarsawPoland
  5. 5.Department of PediatricsRadboud University Nijmegen Medical CentreNijmegenThe Netherlands