Hereditary Hemorrhagic Telangiectasia

A 18 September 2015 New York Times article describes a boy with symptoms so odd that the mother needed to lie about the details to get brain imaging:

... an M.R.I. showed the boy had an abscess and needed emergency surgery to reduce the pressure in his brain.

When Dr. David Bloom, a senior pediatric radiologist, reviewed the film, he did not think the boy’s chest X-ray looked normal. There was a dim but discrete area of lightness where the lung should be mostly dark. What was that?

A favorite radiology teacher of his once told Bloom that being smart was good, but having old films was even better. So Bloom looked at the patient’s older X-rays. He found the same abnormality. Based on its location and appearance, he thought it probably represented a pulmonary arteriovenous malformation (AVM), an aberrant connection between the arteries and veins.

Click here to see the differential diagnoses in SimulConsult Diagnostic Decision Support with this information. The top 2 diagnoses are different genetic forms of hereditary hemorrhagic telangiectasia.

Registration is required to click into the software because access to the software is restricted for legal reasons to medical professionals and students.

If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please contact us and include enough information for us to find the material. The differential diagnosis will change over time as people mull over the case and submit new information to the database about findings in the relevant diseases.