Thursday, August 15, 2013

X Files

A 5 year old boy comes to your clinic because of bleeding propensity. Even at birth, he had petechiae and prolonged bleeding from the umbilical stump and after circumcision. Through his childhood, he has had purpura, epistaxis, hematuria, and even one episode of GI bleeding. His past medical history is significant for eczema, for which he is followed by a dermatologist, and recurrent Streptococcal and Haemophilus infections. He's had otitis media, sinusitis, and pneumonia, especially in the last two years.

Exam shows some lymphadenopathy and hepatosplenomegaly. He has eczema and some Molluscum. Labs show a decreased platelet count.

Challenge: This patient is at risk for lymphoma, autoimmune disorders, and other malignancies. What does he have?

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3 comments:

Anonymous said...

wiskott aldrich

sibogox said...

Wiskott Aldrich Syndrome?

Craig Chen said...

yep! prototypic step 1 question
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X Files

This is Wiskott-Aldrich syndrome, an X-linked disorder.

Source: UpToDate.