Abstract:
Background: A term baby presented with rash and blood in stools in the second week of life. We describe the management and ascertain the diagnosis.
Clinical Description: Blood in stools and purpuricrash on body.
Management: Blood tests including peripheral blood smear, Karyotype and Genetic analysis, baby was observed on follow up with repeated blood tests. The baby was clinically well on follow up visits and growth was within normal limits.
Conclusion: Haematological malignancy should be evaluated in infants with bleeding episodes, high leucocyte count and thrombocytopenia. NAIT has to be ruled out if platelet count of mother is normal. In our case, the infant was also confirmed to have Down Syndrome with GATA 1 mutation suggestive of TAM. Transient Abnormal Myelopoiesis (TAM) is a condition which is seen in 4 to 10% of neonates[1]. It is a preleukemic disorder that occurs only in neonates with constitutional trisomy 21 [2].The infant was confirmed to have Down Syndrome with GATA 1 mutation suggestive of TAM.
Keywords: TAM, NAIT, GATA1, JAK3
Audience Take Away:
- Haematological malignancy should be evaluated in infants with bleeding episodes
- high leucocyte count and thrombocytopenia
- NAIT has to be ruled out if platelet count of mother is normal
- Long term followup is required to know the evolution of the disease condition
- Written informed consent for publication was obtained from the father of the baby
