Thrombocytopenia absent radius (TAR) syndrome.

AIM

The aim of the work was a presentation of one case with Thrombocytopenia absent radius (TAR) syndrome.

METHODS

Diagnosis of TAR syndrome has been established on the basis of pedigree, laboratory findings (hemogram, platelet count, peripheral smear), bone marrow biopsy, radiological examination and karyotype.

RESULTS

A patient was a two months old female child, hospitalized due petechial bleeding, upper limb anomalies and diarrhea.

LABORATORY FINDINGS

red blood cell count was 2.1 x 1012/L, hemoglobin value was 62 g/L, white blood cell count indicated the existence of leukemoid reaction (40.0 x 109/L), the eosinophyle count at the leukocyte formula was increased (3%), bleeding time was prolonged (10'). The platelets at the peripheral blood smear were rarely present, whereas the megacaryocytes appeared in the bone marrow aspiration in the decreased number, or did not appear at all. At the radiological examination of the upper limbs, radius was absent in both shoulders.

CONCLUSION

TAR syndrome is a rare hereditary disease. Obligatory clinical manifestations are: thrombocytopenia and bilateral absence of the radius. Prenatal diagnosis can be established during the 16th week of gestation by ultrasound and if it is continued with the pregnancy it is preferred that the platelet transfusion be given intrauterine. The mortality rate depends on the age of the patient and the platelet count.