Diagnostic Dilemma

Anemia with hepatosplenomegaly


Author: Pediatric Oncall
Question
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.

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