Take the Case Challenge: A Newborn with Thrombocytopenia, Cataracts, and Hepatosplenomegaly

Posted by • January 26th, 2018

A newborn boy was transferred to the neonatal intensive care unit (ICU) because of thrombocytopenia and abnormal results on an eye examination for red reflex and on a hearing screening. What is the most likely diagnosis?

Read the case description. Then vote and comment about what the diagnosis may be and what diagnostic tests will prove useful. Find the answers in the full text of the case to be published on March 9.  Follow the conversation on Facebook and Twitter with #NEJMCases.

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