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

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.

journal_name

Pediatr Blood Cancer

journal_title

Pediatric blood & cancer

authors

Stoddart MT,Connor P,Germeshausen M,Ballmaier M,Steward CG

doi

10.1002/pbc.24566

subject

Has Abstract

pub_date

2013-09-01 00:00:00

pages

E94-6

issue

9

eissn

1545-5009

issn

1545-5017

journal_volume

60

pub_type

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