Affordable Access

deepdyve-link deepdyve-link
Publisher Website

Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life.

Authors
  • Stoddart, Michael T1
  • Connor, Philip
  • Germeshausen, Manuela
  • Ballmaier, Matthias
  • Steward, Colin G
  • 1 Imperial College School of Medicine, London, UK.
Type
Published Article
Journal
Pediatric Blood & Cancer
Publisher
Wiley (John Wiley & Sons)
Publication Date
Sep 01, 2013
Volume
60
Issue
9
Identifiers
DOI: 10.1002/pbc.24566
PMID: 23625800
Source
Medline
Keywords
License
Unknown

Abstract

Congenital amegakaryocytic thrombocytopenia (CAMT) is characterised by neonatal thrombocytopenia, with reduced or absent bone marrow megakaryocytes, leading eventually to pancytopenia. The mean age for progression to bone marrow failure is four years, with the earliest reported being six months. We describe a CAMT patient with compound heterozygous mutations of the causative MPL gene (one being a previously unreported splice site mutation in intron 11) who developed pancytopenia within the first month of life. This report emphasises the importance of considering CAMT in the differential diagnosis of congenital aplastic anaemia or idiopathic aplastic anaemia in babies.

Report this publication

Statistics

Seen <100 times