The X ray shown above is of an infant born with congenital hand and arm deformities. This patient was presented to the emergency department with bleeding from the nose and mouth in his first week of life.
1. What is the most probable diagnosis?
2. What is the usual cause of mortality in such patients?
3. What is its mode of inheritance?
4. How it can be differentiated from Fanconi anemia clinically?
Answers And Discussion:
1. What is the most probable diagnosis?
Answer: It is Thrombocytopenia-absent radius (TAR) syndrome characterized by bilateral radial aplasia associated with thrombocytopenia.
TAR was defined as a syndrome and further classified as the association of hypomegakaryocytic thrombocytopenia and absent radii. The clinical presentation varies and includes abnormalities in the GI, skeletal, hematologic, and cardiac systems.
Some have proposed that the association of seemingly disparate skeletal and hematologic abnormalities is related to the simultaneous development of the heart, the radii, and the megakaryocytes at 6-8 weeks’ gestation but the exact pathophysiology of the thrombocytopenia is still unclear.
TAR syndrome is congenital, and patients usually present with symptomatic thrombocytopenia in the first week of life. About 50% of affected infants are symptomatic in the first week of life, and 90% are symptomatic by the age of 4 months. Thrombocytopenia can fluctuate over time. Therefore, if TAR syndrome is strongly suspected on the basis of one normal platelet count, repeating the blood work is recommended.
Thrombocytopenic episodes are most frequent during the first 2 years of life, when they increase the mortality rate secondary to intracranial hemorrhage. With increasing age, the recurrence of thrombocytopenic episodes decreases. Thrombocytopenia can improve to a near-normal state. Nonspecific stress, infection, and diet (e.g. allergy to cow’s milk) may precipitate episodes.
Symptoms include purpura, petechiae, epistaxis, melena, hemoptysis, hematuria, hematemesis, and rarely, intracranial hemorrhage. Platelet transfusions are required for its management.
2. What is the usual cause of mortality in such patients?
Answer: The major cause of mortality in TAR syndrome is hemorrhage. The incidence of hemorrhage is limited to the first 14 months of life. Platelet counts less than 10,000/cmm were especially found to be dangerous. Bleeding and hemorrhage can also result in clinically significant morbidity, especially intracranial hemorrhage.
3. What is its mode of inheritance?
Answer: The mode of inheritance is autosomal dominant with variable penetrance.
4. How it can be differentiated from Fanconi anemia clinically?
Answer: TAR syndrome patients consistently have bilateral absence of the radii with the presence of thumbs and 4 digits. But thumbs may be hypoplastic or absent in patients with Fanconi anemia.
Fanconi anemia is also associated with chromosomal abnormalities, a rare onset of thrombocytopenia before age 1 year, and pancytopenia in children aged 5-10 years. A reliable diagnostic test is a chromosomal breakage study.
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