Congenital amegakaryocytic thrombocytopenia with multiple physical anomalies in a female neonate.

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.

• Authors: Nazish Saqlain, Nisar Ahmed, Unaiza Qamar
• Journal: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP (J Coll Physicians Surg Pak) Vol. 24 Suppl 3 Pg. S253-5 (Nov 2014) ISSN: 1681-7168 [Electronic] Pakistan
• PMID: 25518793 (Publication Type: Case Reports, Journal Article)

Chemical References

• Receptors, Thrombopoietin

Topics

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