SimulConsult Cases Blog: Progeria and Finding the Gene

Cases Blog: Progeria and Finding the Gene

A 30 January 2005 article "Racing With S" in the New York Times describes the search for progeria gene. In the article, a boy with progeria is described. His diagnosis was made before 2 years of age and the reporter met him at 7 years of age:

At first, S looked as odd as all the kids whose pictures I had been studying: big bald head, beaky nose, strangely undersize chin and mouth, blue veins twisting beneath a translucent scalp. He was very short and very skinny, and he had a stiff-hipped waddle when he walked. But after I spent a few minutes with him, the oddness melted away, and I was in the vivid vortex of Sam's personality -- noisy, jokey, smart, imaginative and just a little bit full of himself.

He babbled nonstop, his voice permanently high-pitched, as if a 45 r.p.m. record were being played at 78.

When S was about 9 months old, his growth curve plummeted, and everything changed.

G ... insisted on getting Sam tested for various disorders, but she got no answers for why he was so small, or why his teeth were not coming in.

Click hyperlinked findings in the description above to see differential diagnoses for the individual finding using SimulConsult Neurological Syndromes. Click here to see the result in the software with all the findings combined together.

Without any laboratory testing, progeria is listed as #2, and turning off the incidence setting makes it overwhelmingly #1.

G created the Progeria Research Foundation in 1999, born at a kitchen table the way so many patient-advocacy groups are, she decided to highlight the possibility that studying progeria might help uncover secrets about normal aging.

Dr. Francis S. Collins, director of the National Human Genome Research Institute, got involved with the family and his postdoctoral fellow, Dr. Maria Eriksson, found the defect in the lamin-A gene underlying progeria.

Individual registration (free) or institutional access (free) 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. Names are replaced by initials to conform with standard medical format for case presentations.