학술논문
CAMT in a female with developmental delay, facial malformations and central nervous system anomalies
Document Type
Academic Journal
Source
Pediatric Blood & Cancer. Mar 01, 2011 56(3):452-453
Subject
Language
English
ISSN
1545-5009
Abstract
ABSTRACT: Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder characterized by thrombocytopenia and absence or decline in the number of megakaryocytic precursors in the bone marrow. It is caused by mutations in the thrombopoietin receptor gene, c-mpl, involved in the proliferation and differentiation of megakaryocytes and platelets. The association between CAMT and central nervous system (CNS) anomalies has been reported in the literature, albeit not very frequently. Here we present a unique case where CAMT appeared associated to cerebellum agenesis, hypoplasia of the corpus callosum and brainstem, facial malformations, and developmental delay. Pediatr Blood Cancer 2011;56:452-453. © 2010 Wiley-Liss, Inc.