title: CAMT in a female with developmental delay, facial malformations and central nervous system anomalies.
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.
authors.affiliation: Pediatric Hematology and Oncology Unit, Hospital Clínico Universitario de Santiago de Compostela, Spain. nazareth.martinon.torres@sergas.es.
authors.forename: Nazareth
authors.initials: N
authors.lastname: Martinón-Torres
authors.forename: Manuel
authors.initials: M
authors.lastname: Vázquez-Donsión
authors.forename: Lourdes
authors.initials: L
authors.lastname: Loidi
authors.forename: Jose Miguel
authors.initials: JM
authors.lastname: Couselo
mesh_terms: D002490:Central Nervous System / Q000002:abnormalities* / Q000473:pathology; D000080984:Congenital Bone Marrow Failure Syndromes; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology*; D005145:Face / Q000002:abnormalities* / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D013921:Thrombocytopenia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology
chemical_list: D053628:Receptors, Thrombopoietin; C082218:MPL protein, human