Diagnostic Dilemma

Anemia with hepatosplenomegaly

A 2½-month-old girl born to a primigravida mother presented with pallor. Mother was 24 years old. There is no history of jaundice, blood loss or trauma. The child was on exclusive breast feeds. On examination, the child was pale and had dysmorphic features in form of mongloid slant to eyes, epicanthal folds, low set ears, anterior transverse crease in the soles, an increased gap between the great toe and 2nd toe and hypotonia. She had splenohepatomegaly and tachycardia with a hemic murmur. Other systems are normal. Investigations showed anemia and thrombocytopenia.

What is the cause of anemia in the child ?
Expert Opinion :
This child is a case of Down’s syndrome. Since the child is only 2½ months on breast milk, nutritional anemia seems an unlikely cause of anemia and thrombocytopenia. Patients with Down’s syndrome are prone to myelodysplasia and leukemia. Hence the most likely cause would be a myelodysplastic disorder which presents in infancy, can lead to organomegaly and thrombocytopenia in addition to anemia. This child’s hemogram showed hemoglobin to 6 gm/dl, WBC count of 7,500/cumm, platelet count of 55,000/cumm and reticulocyte count of 1.4%. Bone marrow aspiration and biopsy showed no blasts and was suggestive of myelodysplasia.
Answer Discussion :
pawan nunewal
myeloproleferative disorder
4 years ago
adalarasan natesan
iron deficiency also
4 years ago

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