Congenital amegakaryocytic thrombocytopenia: Three case reports from patients with different clinical diagnoses and somatic abnormalities

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dc.contributor.authorYildirim A.T.
dc.contributor.authorGüneş B.T.
dc.contributor.authorOymak Y.
dc.contributor.authorYaman Y.
dc.contributor.authorÖzek G.
dc.contributor.authorCarti Ö.
dc.contributor.authorYeşilipek A.
dc.contributor.authorVergin C.
dc.date.accessioned2024-07-22T08:13:36Z
dc.date.available2024-07-22T08:13:36Z
dc.date.issued2015
dc.description.abstractThe congenital amegakaryocytic thrombocytopenia (CAMT) is a syndrome characterized by preservation of granulocytic and erythroid cells during genesis, with a gradual or progressive decrease in the number of megakaryocytic series of cells in the bone marrow. At later times, most patients develop aplastic anemia. It is important to rule out specific causes of thrombocytopenia that develop in the early stages of CAMT. Typically, there are no specific somatic abnormalities that accompany this deadly disease. Here we present three CAMT cases that presented with different clinical diagnoses, with various physical anomalies in two of those cases. The first patient was examined because of a cytomegalovirus infection. The second patient had been referred with a suspected neonatal alloimmune thrombocytopenia, whereas the third patient presented with chronic immune thrombocytopenic purpura. Subsequently, all three patients were diagnosed with CAMT. Two of the patients had physical anomalies. In particular, the first patient had a duplex urinary system. To our knowledge, this is the first patient with CAMT to have a duplicated collecting sysem. The second patient had a secundum atrial septal defect, an atypical facial appearance, and growth retardation. Since CAMT could also be observed outside the neonatal period, the differential diagnosis for thrombocytopenia should be considered for all age groups. Moreover, it should be considered that CAMT may also be accompanied with somatic abnormalities. © 2015 Wolters Kluwer Health, Inc.
dc.identifier.DOI-ID10.1097/MBC.0000000000000192
dc.identifier.issn09575235
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/16371
dc.language.isoEnglish
dc.publisherLippincott Williams and Wilkins
dc.subjectAbnormalities, Multiple
dc.subjectAnemia, Aplastic
dc.subjectAntiviral Agents
dc.subjectBone Marrow
dc.subjectChild
dc.subjectCytomegalovirus Infections
dc.subjectDiagnostic Errors
dc.subjectDwarfism
dc.subjectFace
dc.subjectFatal Outcome
dc.subjectFemale
dc.subjectGanciclovir
dc.subjectHeart Septal Defects, Atrial
dc.subjectHumans
dc.subjectInfant
dc.subjectInfant, Newborn
dc.subjectPeripheral Blood Stem Cell Transplantation
dc.subjectPurpura, Thrombocytopenic, Idiopathic
dc.subjectThrombocytopenia
dc.subjectThrombocytopenia, Neonatal Alloimmune
dc.subjectThrombopoiesis
dc.subjectUrinary Tract
dc.subjectantivirus agent
dc.subjectganciclovir
dc.subjectArticle
dc.subjectblood smear
dc.subjectbone marrow
dc.subjectcase report
dc.subjectchild
dc.subjectcongenital amegakaryocytic thrombocytopenia
dc.subjectcytogenetics and somatic cell genetics
dc.subjectcytomegalovirus infection
dc.subjectdifferential diagnosis
dc.subjecterythroid cell
dc.subjectface malformation
dc.subjectfemale
dc.subjectgrowth retardation
dc.subjectheart atrium septum defect
dc.subjecthuman
dc.subjectidiopathic thrombocytopenic purpura
dc.subjectinfant
dc.subjectkidney collecting tubule
dc.subjectkidney malformation
dc.subjectneonatal alloimmune thrombocytopenia
dc.subjectnewborn
dc.subjectpathogenesis
dc.subjectpreschool child
dc.subjectpriority journal
dc.subjectthrombocytopenia
dc.subjectAnemia, Aplastic
dc.subjectblood
dc.subjectcomplication
dc.subjectcongenital malformation
dc.subjectCytomegalovirus Infections
dc.subjectdiagnostic error
dc.subjectdwarfism
dc.subjectface
dc.subjectfatality
dc.subjectheart septum defect
dc.subjectmultiple malformation syndrome
dc.subjectpathology
dc.subjectperipheral blood stem cell transplantation
dc.subjectPurpura, Thrombocytopenic, Idiopathic
dc.subjectthrombocytopenia
dc.subjectThrombocytopenia, Neonatal Alloimmune
dc.subjectthrombocytopoiesis
dc.subjecturinary tract
dc.titleCongenital amegakaryocytic thrombocytopenia: Three case reports from patients with different clinical diagnoses and somatic abnormalities
dc.typeArticle

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