European Journal of Pediatrics

, Volume 158, Issue 9, pp 734–739

Haemolytic uraemic syndrome and pulmonary hypertension in a patient with methionine synthase deficiency

  • P. Labrune
  • J. Zittoun
  • I. Duvaltier
  • P. Trioche
  • J. Marquet
  • P. Niaudet
  • M. Odièvre
METABOLIC DISEASES

DOI: 10.1007/s004310051190

Cite this article as:
Labrune, P., Zittoun, J., Duvaltier, I. et al. Eur J Pediatr (1999) 158: 734. doi:10.1007/s004310051190

Abstract

An 18-month-old girl presented with macrocytic megaloblastic anaemia followed by haemolytic uraemic syndrome. Metabolic investigations led to the identification of an inborn error of cobalamin metabolism consisting of defective methylcobalamin biosynthesis, probably cobalamin G, since methionine synthase activity was decreased under standard reducing conditions. Despite treatment, pulmonary hypertension progressively developed and responded to oxygen therapy. Renal involvement evolved to terminal failure and haemodialysis, while pulmonary hypertension was controlled by oxygen therapy. Such clinical manifestations have never been reported in association with a defect of methylcobalamin and thus of methionine biosynthesis.

Conclusion A congenital abnormality of cobalamin metabolism was suspected then confirmed in the presence of typical haematological features associated with unusual clinical manifestations such as progressive renal failure and pulmonary hypertension.

Key words Haemolytic uraemic syndrome Pulmonary hypertension Cobalamin Methylcobalamin Methionine synthase 

Copyright information

© Springer-Verlag Berlin Heidelberg 1999

Authors and Affiliations

  • P. Labrune
    • 3
  • J. Zittoun
    • 1
  • I. Duvaltier
    • 3
  • P. Trioche
    • 3
  • J. Marquet
    • 1
  • P. Niaudet
    • 2
  • M. Odièvre
    • 3
  1. 1.Laboratoire d'Hématologie, Hôpital Henri Mondor, Créteil, FranceFR
  2. 2.Service de Néphrologie Pédiatrique, Hôpital des Enfants Malades, Paris, FranceFR
  3. 3.Service de Pédiatrie, Hôpital Antoine Béclère, BP 405, F-92141 Clamart Cedex, France, e-mail: philippe.labrune@abc.ap-hop-paris.fr, Tel.: +33-1-45 37 44 40, Fax: +33-1 45 37 40 20FR

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