Thrombocytopenia with unilateral dysplastic radius- is it thrombocytopenia - absent radius (TAR) syndrome?

Abstract

Thrombocytopenia - absent radii (TAR) syndrome is an autosomal recessive genetic rare disorder with hypomegakaryocytic thrombocytopenia and bilateral absent radius that may have additional anomalies. This disorder is characterized by thrombocytopenia resulting in potentially severe bleeding episodes primarily during infancy. We report the case of a 7-day-old term appropriate for gestational age (AGA) male baby, product of non consanguineous marriage presented with bloody loose stool, right sided upper limb deformity and paleness of the body, was diagnosed as TAR syndrome with some atypical presentation. Such type of atypical presentation has not been previously reported in a case with TAR Syndrome.Patient was managed in our hospital with packed cell transfusion and two units platelets concentrates transfusion, Intra-venous antimicrobials, and other supportive treatment. He gradually improved and was discharged after seven days of hospital stay with advice to consult orthopedic surgeon for opinion regarding limb reconstruction.