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Congenital disorder of glycosylation type Ia presenting with hydrops fetalis
  1. J M van de Kamp1,*,
  2. D J Lefeber2,*,
  3. G J G Ruijter3,
  4. S J Steggerda4,
  5. N S den Hollander5,
  6. S M Willems6,
  7. G Matthijs7,
  8. B J H M Poorthuis8,
  9. R A Wevers9
  1. 1Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands
  2. 2Laboratory of Neurology and Pediatrics, University Medical Centre St Radboud, Nijmegen, The Netherlands
  3. 3Department of Clinical genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
  4. 4Department of Pediatrics, Leiden University Medical Centre, Leiden, The Netherlands
  5. 5Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
  6. 6Department of Pathology, Leiden University Medical Centre, Leiden, The Netherlands
  7. 7Center for Human Genetics, University of Leuven, Leuven, Belgium
  8. 8Department of Medical Biochemistry, Academic Medical Center, Universiteit van Amsterdam, Amsterdam, The Netherlands
  9. 9Laboratory of Neurology and Pediatrics, University Medical Centre St Radboud, Nijmegen, The Netherlands
  1. Correspondence to:
 MrsJ M van de Kamp
 Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, The Netherlands; jm.vandekamp{at}vumc.nl

Abstract

There is a growing awareness that inborn errors of metabolism can be a cause of non-immune hydrops fetalis. The association between congenital disorders of glycosylation (CDG) and hydrops fetalis has been based on one case report concerning two sibs with hydrops fetalis and CDG-Ik. Since then two patients with hydrops-like features and CDG-Ia have been reported. Two more unrelated patients with CDG-Ia who presented with hydrops fetalis are reported here, providing definite evidence that non-immune hydrops fetalis can be caused by CDG-Ia. The presence of congenital thrombocytopenia and high ferritin levels in both patients was remarkable. These might be common features in this severe form of CDG. Both patients had one severe mutation in the phosphomannomutase 2 gene, probably fully inactivating the enzyme, and one milder mutation with residual activity, as had the patients reported in literature. The presence of one severe mutation might be required for the development of hydrops fetalis. CDG-Ia should be considered in the differential diagnosis of hydrops fetalis and analysis of PMM activity in chorionic villi or amniocytes should also be considered.

  • CDG, congenital disorders of glycosylation
  • PMM, phosphomannomutase

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Footnotes

  • * These authors contributed equally to this manuscript

  • Published Online First 8 December 2006

  • Competing interests: None declared.

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