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CAMT in a female with developmental delay, facial malformations and central nervous system anomalies
Author(s) -
MartinónTorres Nazareth,
VázquezDonsión Manuel,
Loidi Lourdes,
Couselo Jose Miguel
Publication year - 2011
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22904
Subject(s) - medicine , central nervous system , hypoplasia , thrombopoietin , agenesis , brainstem , agenesis of the corpus callosum , corpus callosum , neuroscience , pathology , anatomy , endocrinology , genetics , stem cell , haematopoiesis , biology
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.