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Case report
Dehydrated hereditary stomatocytosis with transient perinatal ascites
  1. A P Basu1,
  2. P Carey1,
  3. T Cynober2,
  4. M Chetty3,
  5. J Delaunay2,
  6. G W Stewart3,
  7. S Richmond1
  1. 1Sunderland Royal Hospital, Sunderland SR4 7TP, UK
  2. 2Service d’Hématologie, d’Immunologie et de Cytogénétique, Hôpital de Bicêtre, 94275 Le Kremlin-Bicêtre, France
  3. 3Department of Medicine, University College London, London WC1E 6JJ, UK
  1. Correspondence to:
    Dr Richmond, Neonatal Unit, Sunderland Royal Hospital, Sunderland SR4 7TP, UK;
    Sam.Richmond{at}ncl.ac.uk

Abstract

The case is reported of a mother and baby with dehydrated hereditary stomatocytosis and perinatal ascites, an autosomal dominant condition not previously reported in Britain. Recognition is important for the management of pregnancy and for avoidance of splenectomy which, if performed, can predispose the patient to fatal thromboembolic events.

  • stomatocytosis
  • ascites
  • OMIM 603528

https://doi.org/10.1136/fn.88.5.F438

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