Intracranial Hemorrhage in Newborn with TAR Syndrome—A Feared Complication  

作　　者：Jório Brito Câmara Bruno Maciel Oliveira Larissa Ferreira Lima Guilherme Straub Maia Ana Paula Marques de Oliveira Melo Sergio Furlan Alessandra Di Marzio de Freitas Valle Jório Brito Câmara;Bruno Maciel Oliveira;Larissa Ferreira Lima;Guilherme Straub Maia;Ana Paula Marques de Oliveira Melo;Sergio Furlan;Alessandra Di Marzio de Freitas Valle(Department of Radiology, Heliopolis Hospital, São Paulo, Brazil;Hospital Regional de Cotia, São Paulo, Brazil)

机构地区：[1]Department of Radiology, Heliopolis Hospital, Sã o Paulo, Brazil [2]Hospital Regional de Cotia, Sã o Paulo, Brazil

出　　处：《Open Journal of Medical Imaging》2020年第2期105-109,共5页医学影像期刊（英文）

摘　　要：The thrombocytopenia-absent radius (TAR) syndrome is an autosomal recessive disease characterized by bilateral absence of radius with the presence of both thumbs and thrombocytopenia, many times associated with cardiac anomalies, intolerance or allergy to cow’s milk and phocomelia. Imaging study is important for the correct diagnosis at birth and documentation of one of the diagnosis criteria (absence of radius) in prenatal care. The main hematologic symptoms and the most feared of them, intracranial bleeding, occurs when platelets levels are below 10,000/mm³, which is more common during the first months. Therefore, imaging study is crucial to quickly identify complications and correctly manage the case. In this case report, the patient had upper limps alterations at birth and at first week presented seizures, with transfontanellar ultrasound and head computed tomography without contrast demonstrating intracranial hemorrhage. Laboratory results and imaging review were able to diagnose TAR syndrome. The patient was treated with platelets transfusion and thrombocytopenia was solved. She is currently under specialized medical care, with no neurological deficits and showing satisfactory development.The thrombocytopenia-absent radius (TAR) syndrome is an autosomal recessive disease characterized by bilateral absence of radius with the presence of both thumbs and thrombocytopenia, many times associated with cardiac anomalies, intolerance or allergy to cow’s milk and phocomelia. Imaging study is important for the correct diagnosis at birth and documentation of one of the diagnosis criteria (absence of radius) in prenatal care. The main hematologic symptoms and the most feared of them, intracranial bleeding, occurs when platelets levels are below 10,000/mm³, which is more common during the first months. Therefore, imaging study is crucial to quickly identify complications and correctly manage the case. In this case report, the patient had upper limps alterations at birth and at first week presented seizures, with transfontanellar ultrasound and head computed tomography without contrast demonstrating intracranial hemorrhage. Laboratory results and imaging review were able to diagnose TAR syndrome. The patient was treated with platelets transfusion and thrombocytopenia was solved. She is currently under specialized medical care, with no neurological deficits and showing satisfactory development.

关 键 词：TAR Syndrome Intracranial Hemorrhage NEONATOLOGY Transfontanellar Ul-trasound CT 

分 类 号：R74[医药卫生—神经病学与精神病学]