Rett Syndrome

A 22 March 2005 New York Times interview with Dr. Huda Zoghbi traces her motivation to find the gene for Rett syndrome to a patient she saw during her residency:

I met A, a 5-year-old. She couldn't communicate, was having seizures, balance problems and was constantly wringing her hands. 

Her parents said she had started life as a perfectly normal girl and then at the age of 18 months, all of this became manifest.

Click here to see the result in SimulConsult Diagnostic Decision Support with all the findings combined together.  The software ranks Rett syndrome as #1, but the hand-wringing is a give-away to those who appreciate its significance; typically the software gets Rett syndrome diagnoses without including the hand-wringing.  Without including the hand-wringing, Rett syndrome is still high in the differential diagnosis, with the leading disease being lead encephalopathy, which can be excluded by a simple blood test.  However, we have additional information about A from an interview with Dr. Zoghbi in the Howard Hughes Medical Institute bulletin:

Instead of gaining skills, A seemed to be losing them, becoming uncoordinated and uncommunicative. She stopped playing with her toys, coloring with crayons and running to the door to greet her daddy when he came home from work. Instead, she just rocked back and forth, staring vacantly and grinding her teeth.

“She was constantly wringing her hands, having trouble with balance and staring past all of us,” Zoghbi recalls. “She would alternate rapid breathing with holding her breath.”

Adding this information (but still not using the hand-wringing) Rett syndrome is #1 by a wide margin. 

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.