A 29 August 2011 Washington Post article describes a girl with problems that stumped her doctors for 5 years:
Right away the obstetrician knew that something was very wrong.
MM weighed just over five pounds and had a head that was abnormally long and narrow. Her muscle tone was worrisomely floppy, and her cry unusually weak. Doctors at Frederick Memorial Hospital let LM hold her newborn briefly before whisking her off to the neonatal intensive care unit.
“I didn’t see her much for a few days,” recalled McElhinney of the period immediately following the birth of her fourth child, in June 2002. After nearly a week in the hospital the baby was sent home, although no one could say what was wrong. Initial tests found no obvious cause, such as a metabolic disorder.
More than five years would elapse before McElhinney and her husband, Brad, learned the reason for their daughter’s problems.
At 7 months, when she had not rolled over, which some babies do when they are a few weeks old, Morgan began early intervention therapy under the auspices of a state program.
Around the same time, McElhinney’s hopes were briefly buoyed. Doctors discovered that Morgan was severely nearsighted. “Vision is so important to development, so we hoped once she got glasses that would help,” McElhinney said. But seeing better didn’t seem to make much difference.
Click here to see the differential diagnoses in SimulConsult Diagnostic Decision Support at this point. The diagnosis of Cohen Syndrome is #2, but other diagnoses high in the list could have been excluded easily on physical examination or on tests likely to have been already done such a routine chromosomal analysis, making Cohen syndrome the overwhelmingly likely diagnosis (click here to see the differential diagnosis with the absence of pectus excavatum entered, and the display on the "Add findings" tab set to Tests, highlighting the VPS13B gene test, the correct one to obtain in this situation).
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.