title: Congenital amegakaryocytic thrombocytopenia: three case reports from patients with different clinical diagnoses and somatic abnormalities.
abstract: The 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.
authors.affiliation: aDepartment of Pediatric Hematology, Faculty of Medicine,Celal Bayar University, Manisa bDepartment of Pediatric Hematology, Dr Behcet Uz Children's Hospital, Izmir cDepartment of Pediatric Hematology, Faculty of Medicine, Sütçü İmam University, Kahramanmaraş dDepartment of Pediatric Hematology, Faculty of Medicine, AkdenizUniversity, Antalya, Turkey.
authors.forename: Ayşen Türedi
authors.initials: AT
authors.lastname: Yldrm
authors.forename: Burçak Tatl
authors.initials: BT
authors.lastname: Güneş
authors.forename: Yeşim
authors.initials: Y
authors.lastname: Oymak
authors.forename: Yöntem
authors.initials: Y
authors.lastname: Yaman
authors.forename: Gülcihan
authors.initials: G
authors.lastname: Özek
authors.forename: Özgür
authors.initials: Ö
authors.lastname: Cart
authors.forename: Akif
authors.initials: A
authors.lastname: Yeşilipek
authors.forename: Canan
authors.initials: C
authors.lastname: Vergin
mesh_terms: D000015:Abnormalities, Multiple / Q000097:blood*; D000741:Anemia, Aplastic / Q000209:etiology; D000998:Antiviral Agents / Q000627:therapeutic use; D001853:Bone Marrow / Q000473:pathology; D002648:Child; D003586:Cytomegalovirus Infections / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D003951:Diagnostic Errors; D004392:Dwarfism / Q000150:complications; D005145:Face / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D015774:Ganciclovir / Q000627:therapeutic use; D006344:Heart Septal Defects, Atrial / Q000150:complications*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D036102:Peripheral Blood Stem Cell Transplantation; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D013921:Thrombocytopenia / Q000151:congenital*; D054098:Thrombocytopenia, Neonatal Alloimmune / Q000175:diagnosis*; D034061:Thrombopoiesis; D014551:Urinary Tract / Q000002:abnormalities*
chemical_list: D000998:Antiviral Agents; D015774:Ganciclovir