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

Abstract

Background: Bilateral radii aplasia with the presence of both thumbs and episodes of low platelets count are the main characteristics of thrombocytopenia with absent syndrome, which is an unusual birth disorder, with an incidence of 0.42\100 000 population. Case presentation: The authors reported a case of a 6-month-old baby girl who experienced thrombocytopenia at the age of 6 months for the first time, as a result of cow’s milk being introduced for 45 days with chronic diarrhea and growth failure. She had a deviation of the axis of the hand laterally, and a bilateral absent of radii with the presence of both thumbs. In addition, she had abnormal psychomotor development, marasmus case manifestations. Conclusions: Our aim in publishing the current case report is that clinicians caring for patients with thrombocytopenia with absent syndrome will be aware of the myriad of complications, which may occur in the other organ systems so that they can promptly diagnose and treat any associated abnormalities.