TITLE:
Intracranial Hemorrhage in Newborn with TAR Syndrome—A Feared Complication
AUTHORS:
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
KEYWORDS:
TAR Syndrome, Intracranial Hemorrhage, Neonatology, Transfontanellar Ul-trasound, CT
JOURNAL NAME:
Open Journal of Medical Imaging,
Vol.10 No.2,
June
11,
2020
ABSTRACT: 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.