Thrombocytopenia With Absent Radii Syndrome With an Unusual Urological Pathology: A Case Report

Abstract

Thrombocytopenia with absent radii (TAR) syndrome is a rare congenital syndrome that follows an autosomal recessive pattern of inheritance. TAR syndrome is characterized by thrombocytopenia and bilateral absence (aplasia) of the radii of the forearms. This syndrome can be associated with defects within the skeletal, cardiac, renal, or gastrointestinal systems. It is important for clinicians treating patients with TAR syndrome to be aware of the myriad of complications that may arise in the other organ systems in order to promptly diagnose and treat any associated anomalies. We present a case of an African American infant diagnosed with TAR syndrome who was also found to have grade 5 vesicoureteral reflux and moderate right hydronephrosis, as well as cow's milk protein allergy.

Thrombocytopenia with absent radii syndrome with delayed presentation of thrombocytopenic episodes: a case report

“…The thrombocytopenia that develops in TAR syndrome is Hypomegakaryocytic Thrombocytopenia platelet hypoproduction caused by insufficient numbers of megakaryocytes, the precursors to platelets, in the bone marrow 11 , as it shown in the bone marrow aspiration that has been performed.…”

“…The etiology of the Hypomegakaryocytic thrombocytopenia in these patients is hematopoietic stem cells, which do not appropriately respond to thrombopoietin and impaired maturation of the megakaryocyte progenitor cells in the bone marrow 11 . Several studies have attempted to explain the pathophysiology underlying the impaired megakaryopoiesis seen in TAR syndrome; however, to date this is still unclear 6 .…”

“…In some cases, the underlying thrombocytopenia can be occur due to CMPA (cow’s milk protein allergy), as seen in our case. The patient was brought in with chronic diarrhea after cow’s milk introduction, for this reason she presented with a low platelets count of 42 000 plt\ml 11 .…”

Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles

“…It has been seen, for example, that the 5′ UTR SNP c.-21G>A correlates with a lower PLT count and red blood cell production defects, which could normalize over the years, whereas the intronic SNP c.67+32G>C seems to be related with higher PLT counts, but not with red blood cells anomalies [ 19 ]. A search in the literature for TAR syndrome cases that were genetically characterized revealed over 130 cases and seven different genotypes, as summarized in Figure 2 b [ 6 , 8 , 12 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 ].…”

“…NMD—nonsense-mediated mRNA decay. Source [ 2 , 3 , 6 , 8 , 12 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 ].…”