Diagnostic Dilemma

Hepatosplenomegaly with cherry red spot

Author: Pediatric Oncall
An 8-month-old boy born of non-consanguineous marriage presented with non achievement of any milestone. He was born at full term by normal vaginal delivery and there were no antenatal or post-natal complications. He is only child of his parents. They had a previous intrauterine fetal death prior to this child. There are no seizures. On examination, he had hepatosplenomegaly. Other systems were normal. Investigations showed:
• Cherry red spot on funduscopy
• Bone marrow aspiration – No storage cells.

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