A 19 May 2006 CNN video describes how a mother took her son around to pediatricians in New York in the early 1990s, convinced because of his long slender fingers that something was wrong .  None of the doctors figured out that he had Marfan syndrome and the problem was dismissed as "maternal anxiety".  As the boy grew it was clear he was unusually tall. 

The diagnosis was made at 5 years old by the mother after she'd purchased a computer for her son's birthday.  A software program called "The Family Doctor" was bundled with the computer and she used the program to make the diagnosis.

The diagnosis of someone with arachnodactyly and tall stature should not be difficult.  Even using Google Health it comes up as #3 in the listing (accessed on 19 May 2006), and even in SimulConsult Neurological Syndromes it is #1 by a wide margin using the two findings, even though Marfan syndrome is not usually thought of as a neurological syndrome.  Adding other findings such as dolichostenomelia makes the differential diagnosis even more crisp.

Marfan syndrome is included in SimulConsult Neurological Syndromes for two reasons:

• Although people with Marfan syndrome do not actually have the neurological finding of hypotonia they can appear to be hypotonic because they have joint laxity that is often labeled as hypotonia.  The "Family Doctor" program lists hypotonia as one of the findings in Marfan syndrome, and we have also listed a low frequency of hypotonia in Marfan syndrome in SimulConsult Neurological Syndromes to make sure that such cases are not overlooked.

• As recounted in a GeneReviews article by Dr. Harry Dietz, Marfan syndrome does have true neurological findings.  "Individuals with Marfan syndrome often develop stretching of the dural sac in the lumbosacral region (dural ectasia) that can lead to bone erosion and nerve entrapment. Symptoms include low back pain, proximal leg pain, weakness and numbness above and below the knees, and genital/rectal pain. Leaking of CSF from a dural sac can cause postural hypotension and headache."

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.