Congenital amegakaryocytic thrombocytopenia with multiple physical anomalies in a female neonate

J Coll Physicians Surg Pak. 2014 Nov:24 Suppl 3:S253-5.

Abstract

Congenital Amegakaryocytic Thrombocytopenia (CAMT) is a rare disorder of infancy characterized by isolated thrombocytopenia along with hypoplasia or aplasia of megakaryocytes in the bone marrow. It is caused by c-mpl mutation which disrupts the function of thrombopoietin (TPO) receptor. CAMT in association with physical anomalies is a rare entity with only limited data from single case reports being available. Here we present a case of 35 days neonate who had CAMT together with facial malformations and cardiac defects.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Congenital Bone Marrow Failure Syndromes
  • Echocardiography
  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Megakaryocytes
  • Mutation
  • Receptors, Thrombopoietin / genetics
  • Thrombocytopenia / diagnosis*
  • Thrombocytopenia / genetics

Substances

  • Receptors, Thrombopoietin

Supplementary concepts

  • Congenital amegakaryocytic thrombocytopenia